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Germ Cell Tumors

In the developing embryo germ cells migrate to the ovaries or testicles and form the ova (egg cells) or sperm cells. Germ cell tumors occur where these cells start to grow in abnormal or uncontrolled way. These tumors typically produce high levels of alphafetoprotein (AFP), which helps with diagnosis. Germ cell tumors are most common in children and young adults. There are different sub-types: which can be devided into seminoma (in young men, or refered to as germinoma in females), or non-seminomas, which include (embryonal carcinoma, immature teratoma, endodermal sinus tumor (sometimes called 'yolk sac tumors'), choriocarcinoma, and 'mixed germ cell tumors').

Most germ cell tumours occur in the testicals (male gonads) or in the ovaries (female gonads). However, they can also develop in other parts of the body such as the sacrococcygeal region, brain, abdomen and other sites - this may occur when some of the germ cells in the embryo did not migrate properly. These are referred to as Extragonadal Germ Cell Tumors - meaning that they started outside of the gonads and there is no evidence of cancer in the testes/ovaries.

The remaider of this page focuses on Extragonadal germ cell tumors (EGCT) in adults. See separate pages on testicular cancer, ovarian cancer and childhood germ cell tumors (which tend to be quite different to those in adults). For information on germ cell tumours of the brain see also the section on brain tumors.

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Information for Patients and the Public
Information for Health Professionals / Researchers
Latest Research Publications (Extragonadal Germ Cell Tumors)
Childhood Germ Cell Tumors
Testicular Cancer (in adults)
Ovarian Cancer (in adults)
Brain Tumors

Information Patients and the Public (3 links)


Information for Health Professionals / Researchers (5 links)


Latest Research Publications (Extragonadal Germ Cell Tumors)

Willems E, Martens S, Beelen R
Robotically enhanced mediastinal teratoma resection: a case report and review of the literature.
Acta Chir Belg. 2016; 116(5):309-312 [PubMed] Related Publications
Mediastinal teratomata are rare, extragonadal germ cell tumors, which can occur at any age and are often asymptomatic. We present the case of a 57-year-old female with chronic cough diagnosed with a mass in the anterior mediastinum. The mass was successfully resected using the Intuitive Da Vinci® robotic system. The patient had an uneventful recovery. Review of the literature demonstrates that robotic surgery of the mediastinum is a safe and feasible alternative in selected cases.

Choi JE, Choe AR, Yoon SE, et al.
Germ Cell Tumor Targeting Chemotherapy in Gastric Adenocarcinoma with an Endodermal Sinus Tumor Component: A Case Report.
Chemotherapy. 2017; 62(1):54-57 [PubMed] Related Publications
The most common sites for extragonadal germ cell tumors are the midline mediastinum, retroperitoneum and, much less frequently, the stomach. The stomach-originated primary germ cell tumor carries a poor prognosis, especially when metastasis occurs to the liver, with a mean survival time of 1 month. We describe the case of a 77-year-old male who presented with usual symptoms of gastric malignancy. Gastrectomy was performed. Histopathology of surgically resected tissue revealed a mixture of adenocarcinoma and endodermal sinus tumor components with α-fetoprotein production. After liver metastasis was identified, oxaliplatin and capecitabine were administered as palliative chemotherapy. The response was poor. For the second-line therapy, bleomycin, etoposide, and cisplatin (BEP) therapy was initiated. The overall response to these drugs was a partial response and the residual liver lesion was considered to be resectable. The patient died of pneumonia 11 months following the BEP session, representing an overall survival time of 22 months. Gastric adenocarcinoma with a germ cell tumor component is uncommon and an effective combination of chemotherapeutic agents is not yet clear. In this case, the patient received germ cell tumor-targeting chemotherapy and showed a durable response. Hence, germ cell-targeting cytotoxic agents have potential as the 'front-line regimen'.

van Leeuwen MT, Gurney H, Turner JJ, et al.
Patterns and trends in the incidence of paediatric and adult germ cell tumours in Australia, 1982-2011.
Cancer Epidemiol. 2016; 43:15-21 [PubMed] Related Publications
PURPOSE: Germ cell tumour (GCT) aetiology is uncertain and comprehensive epidemiological studies of GCT incidence are few.
METHODS: Nationwide data on all malignant GCTs notified to Australian population-based cancer registries during 1982-2011 were obtained. Age- and sex-specific, and World age-standardised incidence rates were calculated for paediatric (0-14) and adult (15+) cases using the latest WHO subtype classification scheme. Temporal trends were examined using Joinpoint regression.
RESULTS: There were 17,279 GCTs (552 paediatric, 16,727 adult). Age-specific incidence in males (all histologies combined) was bimodal, with peaks during infancy for most sites, and second, larger, peaks during young adulthood. Incidence of ovarian tumours peaked at age 15-19. Around half of paediatric tumours were extragonadal, whereas adult tumours were mostly gonadal. Yolk sac tumours and teratomas predominated in infants, whereas germinomas became more frequent towards adulthood. Increasing incidence trends for some adult gonadal tumours have stabilised; the trend for male extragonadal tumours is also declining.
CONCLUSION: Broad similarities in the shape of age-specific incidence curves, particularly for gonadal, central nervous system, and mediastinal tumours provide epidemiological support for commonalities in aetiology among clinically disparate GCT subtypes. Differences in peak ages reflect underlying subtype-specific biological differences. Declining incidence trends for some adult gonadal tumours accords with the global transition in GCT incidence, and supports the possibility of a reduction in prevalence of shared aetiological exposures.

Jovanović M, Janjusević N, Mirković D, et al.
Giant primary retroperitoneal seminoma: A case report.
Vojnosanit Pregl. 2016; 73(2):205-7 [PubMed] Related Publications
INTRODUCTION: Primary extragonadal seminomas are rare tumors. There have been only a few cases of the primary retroperitoneal seminomas reported in the literature up to date.
CASE REPORT: We reported a 56-year-old man with giant primary retroperitoneal seminoma presented with the enlargement of the left side of the abdomen and deep venous thrombosis of the left leg. Computed tomography of the abdomen showed a large tumor occupying the left part of the retroperitoneal space with 23 x 13 cm in diameter. Firm tumor mass having 25 x 15 cm in diameter was surgically removed from the left retroperitoneum. The tumor adhered the tunica adventitia of the aorta and it was carefully resected from the aortic wall. The diagnosis of seminoma was made during histopathological examination. The patient underwent chemotherapy. Two years after finished chemotherapy the patient accepted left orchiectomy with the aim of eliminating the possibility of the occult malignancy of the testicle. Histopathological analysis of the testicular tissue was normal and the diagnosis of primary retroperitoneal seminoma was confirmed. CONCLUSION. Despite its small incidence in general population, the diagnosis of retroperitoneal seminoma should be considered in male patients with nonspecific symptoms and with retroperitoneal tumor mass.

Busch J, Seidel C, Zengerling F
Male Extragonadal Germ Cell Tumors of the Adult.
Oncol Res Treat. 2016; 39(3):140-4 [PubMed] Related Publications
Male extragonadal germ cell tumors (EGCTs) are characterized by a malignant transformation of germ cells without the presence of a gonadal primary tumor. EGCTs represent up to 5% of all germ cell tumors (GCTs) with an incidence around 1/1,000,000. It is assumed that EGCTs either derive from a malignant transformation of germ cells that were misdirected during embryogenesis, or from germ cells that have spread throughout the body during embryogenesis to fulfil different roles in immunological processes or distinct organ functions. EGCTs are mainly localized along the median axis, especially in the mediastinum and in the retroperitoneum. Regarding histology, they have the same subtypes as gonadal GCTs (seminomas and non-seminomas). EGCTs are normally diagnosed in advanced stages due to tumor-associated symptoms or as incidental finding during routine diagnostic or therapeutic procedures. An integral part of EGCT treatment is cisplatinum-based chemotherapy: residual tumor resection is only indicated for non-seminomatous EGCTs. The prognosis of malignant retroperitoneal EGCTs depends on tumor localization and histology. The 5-year overall survival ranges from 40% to 90% and is more favorable for retroperitoneal or seminomatous tumors than for mediastinal non-seminomatous tumors. Mature teratomas of mediastinal EGCTs are benign and are only treated by surgical resection.

Makino T, Konaka H, Namiki M
Clinical Features and Treatment Outcomes in Patients with Extragonadal Germ Cell Tumors: A Single-center Experience.
Anticancer Res. 2016; 36(1):313-7 [PubMed] Related Publications
BACKGROUND: The prognosis for non-seminomatous extragonadal germ cell tumors (EGCTs), especially mediastinal, has been shown to be worse than for seminomatous EGCTs.
PATIENTS AND METHODS: Fourteen patients with EGCT (seven pure seminomas and seven non-seminomas) were treated at the Kanazawa University Hospital between 1992 and 2014; the primary tumor sites were mediastinum in nine patients and retroperitoneum in five patients. All patients were treated with cisplatin-based combination chemotherapeutic regimens followed by a multimodal strategy that included high-dose chemotherapy (HDCT), aggressive surgery, and early salvage chemotherapy.
RESULTS: Although all patients with seminomatous EGCT achieved long-term survival, almost all patients with non-seminomatous EGCT had elevated serum tumor markers and high mortality rates. However, we experienced that patients with mediastinal non-seminomatous EGCT achieved long-term cancer-free survival with HDCT. The 5-year overall survival of patients with seminomatous and non-seminomatous EGCT was 100% and 44%, respectively.
CONCLUSION: Herein we describe the treatment outcomes of patients with EGCT at our Institute and propose HDCT reconsideration for poor-risk patients.

Gilligan T
Decision Making in a Data-Poor Environment: Management of Brain Metastases From Testicular and Extragonadal Germ Cell Tumors.
J Clin Oncol. 2016; 34(4):303-6 [PubMed] Related Publications
The Oncology Grand Rounds series is designed to place original reports published in the Journal into clinical context. A case presentation is followed by a description of diagnostic and management challenges, a review of the relevant literature, and a summary of the authors' suggested management approaches. The goal of this series is to help readers better understand how to apply the results of key studies, including those published in Journal of Clinical Oncology, to patients seen in their own clinical practice.A 32-year-old man with a history of a mixed germ cell tumor of the testis presented with acute-onset, right-sided weakness and numbness. His previous treatment included orchiectomy, which revealed a 5-cm tumor that was 95% yolk sac tumor and 5% embryonal carcinoma, and retroperitoneal lymph node dissection for clinical stage I disease in January 2010, which revealed no nodal metastases. Starting in June 2010, he was treated with four cycles of etoposide and cisplatin for pulmonary and thoracic lymph node metastases and a rising serum alpha-fetoprotein (AFP) level. He subsequently received four cycles of paclitaxel, ifosfamide, and cisplatin for relapse in the lungs and mediastinal nodes with a rising AFP level starting in January 2011. He reported having a 2-week history of intermittent headaches in December 2011, when he presented with acute-onset, right-sided weakness and numbness. Computed tomographs of the head was obtained and demonstrated a left parietal intracranial hemorrhage without midline shift or hydrocephalus. Brain magnetic resonance imaging (MRI) showed a complex, 4.5-cm mass consistent with a hemorrhagic metastasis. His serum AFP level was elevated at 47 ng/mL. The patient became progressively obtunded and underwent emergency surgical decompression and resection of the tumor. Histopathologic evaluation of the resected tissue showed metastatic germ cell tumor predominantly consisting of a yolk sac element (Fig 1). His AFP level declined rapidly after resection, and computed tomography of the chest, abdomen, and pelvis showed no evidence of metastatic disease. However, 2 weeks later, his AFP level rose again, and repeat MRI of the brain showed a 3-cm mass in the left mesial parietal lobe adjacent to the resection site. He started treatment with filgrastim to facilitate collection of circulating hematopoietic stem cells. Several days later, after apheresis, he received his first of two cycles of high-dose carboplatin 700 mg/m(2) on days -5, -4, and -3 and etoposide 750 mg/m(2) on days -5, -4, and -3. The patient had a complete response to high-dose chemotherapy and no major acute complications. His cancer remains in complete remission 3 years later without additional treatment. His three lines of chemotherapy left him with chronic peripheral neuropathy.

Cierna Z, Mego M, Miskovska V, et al.
Prognostic value of programmed-death-1 receptor (PD-1) and its ligand 1 (PD-L1) in testicular germ cell tumors.
Ann Oncol. 2016; 27(2):300-5 [PubMed] Free Access to Full Article Related Publications
BACKGROUND: Testicular germ cell tumors (TGCTs) belong to the most chemosensitive solid tumors; however, a small proportion of patients fail to be cured with cisplatin-based chemotherapy. Inhibitors of PD-1/PD-L1 pathways represent a new class of promising drugs in anticancer therapy. The aim of this study was to evaluate expression and prognostic value of PD-1 and PD-L1 in TGCTs.
PATIENTS AND METHODS: Surgical specimens from 140 patients with TGCTs (131 with primary testicular tumor and 9 with extragonadal GCTs) were included into the translational study. PD-1 and PD-L1 expression was detected in the tumor tissue by immunohistochemistry using monoclonal antibodies, scored by the multiplicative quickscore (QS) method, compared with their expression in normal testicular tissue and correlated with clinicopathological characteristics and clinical outcome.
RESULTS: None of the GCTs exhibited PD-1 protein, although expression of PD-L1 was significantly higher in GCTs in comparison with normal testicular tissue (mean QS = 5.29 versus 0.32, P < 0.0001). Choriocarcinomas exhibit the highest level of PD-L1 with decreasing positivity in embryonal carcinoma, teratoma, yolk sac tumor and seminoma. PD-L1 expression was associated with poor prognostic features, including ≥3 metastatic sites, increased serum tumor markers and/or non-pulmonary visceral metastases. Patients with low PD-L1 expression had significantly better progression-free survival [hazard ratio (HR) = 0.40, 95% confidence interval (CI) 0.16-1.01, P = 0.008] and overall survival (HR = 0.43, 95% CI 0.15-1.23, P = 0.040) compared with patients with high PD-L1 expression.
CONCLUSIONS: In this translational study, we showed, for the first time, the prognostic value of PD-L1 expression in TGCTs and our data imply that the PD-1/PD-L1 pathway could be a novel therapeutic target in TGCTs.

Hung GY, Horng JL, Yen HJ, Lee CY
Pre-pubertal and adolescent germ cell neoplasms in Taiwan: time trends and geographic variation.
Andrology. 2015; 3(5):895-901 [PubMed] Related Publications
Evidence from our previous study suggested that the incidence of germ cell neoplasms in children and adolescents is increasing. The objectives of this analysis were to quantify this trend in patients aged 0-9 and 10-19 years (pre-pubertal and adolescent groups, respectively) and compare rates in Taiwan according to geographic distribution. Germ cell neoplasm frequencies among 1267 patients aged 0-19 years spanning 1995-2009 were obtained from the population-based Taiwan Cancer Registry. The incidence patterns according to sex, age, disease subgroup, and geographic distribution were analyzed. The incidence rates in the pre-pubertal and adolescent groups were 10.58 and 16.06 per million person-years, respectively. The overall rates increased significantly by 3.2% annually in the adolescent group during the 15-year study period, and increased only among the males. In contrast, no change in trend was observed in the pre-pubertal group. Subgroup analysis showed significant upward trends in the incidence rates of intracranial/intraspinal and testicular germ cell tumors (GCTs) in the adolescent males and extracranial/extragonadal GCTs in the pre-pubertal boys. The most striking differences between the study population and white Americans were that the rates of testicular GCTs were 5-fold higher and 4-fold lower in the Taiwanese pre-pubertal and adolescent groups, respectively. Significantly higher rates were found in Hualien and Chiayi Counties compared with the other areas of Taiwan. The upward trend of testicular GCTs in the adolescent males is consistent with findings from Western countries. The underlying causes that led to the high rate of testicular GCTs in the pre-pubertal boys and significantly higher rates in specific counties warrant further investigation.

Kakuda M, Matsuzaki S, Kobayashi E, et al.
A Case of Extragonadal Teratoma in the Pouch of Douglas and Literature Review.
J Minim Invasive Gynecol. 2015 Nov-Dec; 22(7):1311-7 [PubMed] Related Publications
Mature cystic teratoma is a germ cell tumor of the ovaries and is often observed in clinical practice. However, extragonadal teratomas are rare tumors and have been reported outside the ovaries, (e.g., in the greater omentum). The mechanism underlying the development of extragonadal teratomas remains unknown. We encountered a case of extragonadal teratoma in the pouch of Douglas that appeared to be a parasitic dermoid cyst. From our experience and the literature review, we discuss the potential mechanism leading to the development of extragonadal teratomas. A 41-year-old nonpregnant woman was referred to our department due to myoma and anemia. A 4-cm asymptomatic mass in the pouch of Douglas was observed, and the patient was diagnosed with ovarian mature cystic teratoma. She underwent laparoscopic surgery, and intraoperative findings revealed that the fallopian tube was injured and torn, and a residual small ovary was observed in the left side of the ovary. A tumor measuring approximately 4 cm observed in the pouch of Douglas was extracted without rupturing. The tumor was diagnosed as a parasitic dermoid cyst by macroscopic and histopathological findings. Auto-amputation could be the underlying mechanism that leads to an isolated parasitic dermoid cyst in the pouch of Douglas.

Gao Y, Jiang J, Liu Q
Extragonadal malignant germ cell tumors: a clinicopathological and immunohistochemical analysis of 48 cases at a single Chinese institution.
Int J Clin Exp Pathol. 2015; 8(5):5650-7 [PubMed] Free Access to Full Article Related Publications
Primary extragonadal malignant germ cell tumors (EMGCTs) are rare and characterized by the location in the midline of the body, including mediastinum, CNS, retroperitoneum and coccyx. EMGCTs present with different clinical and biologic characteristics in different tumor locations. Accurately diagnosing MEGCTs would be very difficult by performing on HE staining alone, and requires immunohistochemical verification. This study was to investigate the biological feature of EMGCTs and diagnostic value of immunohistochemical markers OCT3/4, CD117, PLAP, AFP, β-HCG and CD30 in EMGCTs. A retrospective study was performed on 48 patients with EMGCTs. EMGCTs were found to occur predominantly in males, especially for mediastinal MGCTs. The tumor locations included mediastinum, CNS and retroperitoneum. The mediastinum and CNS were the most common sites of EMGCTs. Seminoma/germinomas (64.6%) was the most common histological subtypes of EMGCTs. Chest pain, dyspnea, cough and fever were the most common clinical presentations in mediastinal MGCTs. Headache, visual disturbances, endocrine abnormalities, and signs of increased intracranial pressure were common clinical symptoms in CNS MGCTs. Abdominal mass with or without pain, backache and weight loss were common clinical presentations in retroperitoneal MGCTs. PLAP, CD117 and OCT3/4 were highly expressed in seminomas/gernimomas. CD30, EMA and CK AE1/3 staining were positive in embryonal carcinoma. AFP and β-HCG positive staining are characteristic in yolk sac tumors and choriocarcinoma, respectively. Patients with seminomas/germinomas had a better prognosis than those with NS/G-GCTs. Our finding suggests that the accurate diagnosis of EMGCTs is critical not only for predicting the tumor progression but also for patient management. Immunohistochemical markers have become an important tool in the diagnosis and differential diagnosis of EMGCTs.

Akutsu N, Adachi Y, Isosaka M, et al.
Mediastinal Yolk Sac Tumor Producing Protein Induced by Vitamin K Absence or Antagonist-II.
Intern Med. 2015; 54(12):1531-6 [PubMed] Related Publications
Extragonadal yolk sac tumors (YSTs) are rare. We herein report the case of a 66-year-old man with mediastinal, lung and liver tumors. The largest mass was located in the liver and contained a high concentration of protein induced by vitamin K absence or antagonist-II (PIVKA-II) and alpha-fetoprotein. Therefore, the lesion was difficult to distinguish from hepatocellular carcinoma. Finally, YST was diagnosed based on the results of a liver biopsy. Although chemotherapy was effective, the patient died of respiratory failure. The autopsy revealed primary mediastinal YST. In the current report, we describe this case of PIVKA-II-producing YST and review previous cases of PIVKA-II-producing tumors other than hepatoma.

Lee SY, Jo YM, Lee J, et al.
Neuroendocrine carcinoma arising in a mediastinal teratoma with pulmonary metastasis: a case report and the chemotherapy response.
Intern Med. 2015; 54(10):1277-80 [PubMed] Related Publications
Neuroendocrine carcinoma as a somatic-type malignancy (STM) arising in an extragonadal teratoma is extremely rare. The effect of chemotherapy has been poorly evaluated in such cases contrary to teratomas with other STMs. We herein demonstrate that systemic chemotherapy may be beneficial in a case of neuroendocrine carcinoma arising in a mediastinal teratoma with pulmonary metastasis. A 31-year-old man presented with mediastinal widening visualized on a chest radiograph. Computed tomography showed a huge mediastinal mass with two pulmonary nodules. Surgical resection confirmed the presence of a neuroendocrine carcinoma arising in a mediastinal teratoma and pulmonary metastasis. The patient subsequently received chemotherapy and has had no recurrence during the 28-month follow-up.

Terenziani M, D'Angelo P, Inserra A, et al.
Mature and immature teratoma: A report from the second Italian pediatric study.
Pediatr Blood Cancer. 2015; 62(7):1202-8 [PubMed] Related Publications
BACKGROUND: Teratomas demonstrate a benign clinical behavior, however they may recur with malignant components or as teratoma, and in a small group of patients prognosis could be fatal. After the first Italian study, we collected cases of teratoma, alongside the protocol for malignant germ cell tumors.
PROCEDURE: Patients with teratoma were collected from 2004 to 2014. Teratomas were classified according to the WHO classifications, as mature and immature. Patients with pathological aFP and/or bHCG, and those with a malignant germ cell component were not included.
RESULTS: The study enrolled 219 patients (150 mature, 69 immature teratomas) with a median age at diagnosis of 42 months. The primary sites involved were: 118 gonadal and 101 extragonadal teratomas. Two females with ovarian teratoma had a positive family history. Complete and incomplete surgeries were performed in 85% and 9% of cases. Seventeen events occurred: six females had a second metachronous tumor (5 contralateral ovarian teratoma, 1 adrenal neuroblastoma) and 11 teratomas relapsed/progressed (3 mature, 8 immature teratomas). Two patients died, one of progressive immature teratoma and one of surgical complications. At a median follow up of 68 months, the event-free, relapse-free, and overall survival rates were 90.6%, 94.3%, 98.6%, respectively.
CONCLUSIONS: Teratomas show a good prognosis, especially the mature ones: surgery and follow-up remain the standard approach. Incomplete surgery in immature teratoma is the group at greatest risk of relapse. Bilateral ovarian tumors are a possibility, and the rare family predisposition to ovarian mature teratoma warrants further analyses.

Berardi R, Pellei C, Valeri G, et al.
Chromium exposure and germinal embryonal carcinoma: first two cases and review of the literature.
J Toxicol Environ Health A. 2015; 78(1):1-6 [PubMed] Related Publications
The aim of the study was to determine the potential role of occupational exposures to chromium (Cr) in the onset of extragonadal germinal embryonal carcinoma. The first two cases of workers in a company with Cr exposure are reported. The published scientific literature regarding the topic in peer-reviewed journals including MEDLINE and CancerLit databases was extensively reviewed. Two young patients who were coworkers in the same company, exposed to Cr, developed extragonadal germinal embryonal carcinomas. One of them also developed angiosarcoma of the mediastinum. To the best of our knowledge these are the first two cases of germinal embryonal carcinoma in patients with occupational exposure to Cr.

Akasbi Y, Najib R, Arifi S, et al.
Complete histologic response to chemotherapy in a patient with a mediastinal yolk sac tumor: a case report.
BMC Res Notes. 2014; 7:803 [PubMed] Free Access to Full Article Related Publications
BACKGROUND: Malignant mediastinal germ cell tumors are a rare disease and represent only 1% to 4% of all mediastinal tumors. Gonadal germ cell tumors are generally the most common type and constitute 90% of germ cell tumors. The mediastinum is the second most frequently affected area ahead of other extragonadal areas, which include the retroperitoneum, the sacrococcygeal area, and the central nervous system. We report on the case of a mediastinal yolk sac tumor with a complete histological response to chemotherapy.
CASE PRESENTATION: A 26-year-old Moroccan man, without a medical or surgical history, presented with a four-month history of chest distress, dyspnea, and a frequent dry cough for the previous month. A computed tomographic scan of the chest revealed a bulky mediastinal mass, which was biopsied. Histologically, the tumoral mass proved to be a yolk sac tumor. The serum level of alpha-fetoprotein of this patient was elevated to 19052 ng/ml.After 4 courses of preoperative chemotherapy, the patient underwent a surgical resection of the tumor, with a complete pathologic response.At the time of writing, the patient is alive with complete remission without any evidence of recurrence.
CONCLUSION: Primary mediastinal Yolk sac neoplasm represent a unique entity, and as such require specialized management. The diagnosis should be made not only by morphological studies but the patient's age and the elevation of serum alpha-fetoprotein should also be considered. The utilization of cisplatin-based chemotherapy is associated with the best chance of a cure for this disease. This should be followed by surgical resection of the residual tumor in the nonseminomatous germ cell tumor.

Rao M, Chen Y, Zhu Y, et al.
Primary pancreatic choriocarcinoma revealed on FDG PET/CT.
Clin Nucl Med. 2015; 40(1):76-8 [PubMed] Related Publications
Choriocarcinoma is a cancer that usually occurs in the uterus during pregnancy. Extragonadal choriocarcinoma, although very rare, can occur. The diagnostic dilatation and curettage of the uterus in a 28-year-old woman who had vaginal bleeding and elevated human chorionic gonadotrophin level failed to identify any abnormality. FDG PET/CT revealed abnormal activity in the head of the pancreas. Pathological examination after partial pancreatectomy demonstrated primary choriocarcinoma in the pancreas.

Mosbech CH, Svingen T, Nielsen JE, et al.
Expression pattern of clinically relevant markers in paediatric germ cell- and sex-cord stromal tumours is similar to adult testicular tumours.
Virchows Arch. 2014; 465(5):567-77 [PubMed] Related Publications
Paediatric germ cell tumours (GCTs) are rare and account for less than 3 % of childhood cancers. Like adult GCTs, they probably originate from primordial germ cells, but the pattern of histopathological types is different, and they occur predominantly in extragonadal sites along the body midline. Because they are rare, histology of paediatric GCTs is poorly documented, and it remains unclear to what extent they differ from adult GCTs. We have analysed 35 paediatric germ cell tumours and 5 gonadal sex-cord stromal tumours from prepubertal patients aged 0-15 years, to gain further knowledge, elaborate on clinical-pathological associations and better understand their developmental divergence. The tumours were screened for expression of stemness-related factors (OCT4, AP-2γ, SOX2), classical yolk sac tumours (YSTs; AFP, SALL4), GCTs (HCG, PLAP, PDPN/D2-40), as well as markers for sex-cord stromal tumour (PDPN, GATA4). All YSTs expressed AFP and SALL4, with GATA4 present in 13/14. The majority of teratomas expressed SOX2 and PDPN, whereas SALL4 was found in 8/13 immature teratomas. Adult seminoma markers AP-2γ, OCT4, SALL4 and PDPN were all expressed in dysgerminoma. We further report a previously unrecognised pathogenetic relationship between AFP and SALL4 in YST in that different populations of YST cells express either SALL4 or AFP, which suggests variable differentiation status. We also show that AP-2γ is expressed in the granulosa layer of ovarian follicles and weakly expressed in immature but not in mature granulosa cell tumours. Our findings indicate that the expression pattern of these antigens is similar between paediatric and adult GCTs, even though they develop along different developmental trajectories.

O'Donovan EJ, Thway K, Moskovic EC
Extragonadal teratomas of the adult abdomen and pelvis: a pictorial review.
Br J Radiol. 2014; 87(1041):20140116 [PubMed] Free Access to Full Article Related Publications
Teratomas comprise a spectrum of tumours that have striking imaging appearances and are commonly considered when evaluating a mass in the female pelvis. A subgroup of these tumours located in an extragonadal abdominopelvic location, in contrast, are extremely rare and can affect both sexes. Extragonadal teratomas can occur at all ages, are particularly unusual in adults and can cause confusion in the differential diagnosis, especially in children. Familiarity with the imaging features of the spectrum of teratomas within the abdominal cavity is therefore of great importance, as radiological diagnosis can guide treatment, prevent delays in diagnosis and avoid sequelae. This article summarizes the radiological appearances of these rare extragonadal tumours in adults in relation to their pathology, malignant potential, location and behaviour. Although uncommon, teratomas should be considered in the differential diagnosis of extragonadal abdominal masses, particularly in young adults.

Tanaka Y, Koyama S, Shiki Y
Hand-assisted laparoscopic surgery for a mesenteric teratoma.
JSLS. 2014 Jan-Mar; 18(1):160-4 [PubMed] Free Access to Full Article Related Publications
Mature cystic teratomas are benign neoplasms of germ cell tumors that occur most frequently in gonadal sites. The tumors usually contain 2 or 3 well-differentiated elements of endodermal, ectodermal, and mesodermal origin. Although relatively uncommon, teratomas can be composed of mature tissue originating from only 1 germ cell layer. This is known as a monodermal teratoma. Extragonadal teratomas, especially mesenteric teratomas, are extremely rare. Currently, only 21 cases of mesenteric teratoma have been described in the English literature. Mesenteric teratomas are rarely diagnosed preoperatively because pathological examination is necessary to make a definitive diagnosis. We herein report a rare case of mesenteric monodermal teratoma and review the literature. To the best of our knowledge, this is the first case of mesenteric teratoma treated with hand-assisted laparoscopic surgery.

Barrington C, Bertelli G, Evans R
A rare association of extragonadal seminoma with synchronous papillary carcinoma of the thyroid.
BMJ Case Rep. 2014; 2014 [PubMed] Free Access to Full Article Related Publications
A 45-year-old man presented with a large para-aortic retroperitoneal tumour, a smaller second mediastinal tumour and elevated lactate dehydrogenase (LDH). Biopsy established a diagnosis of extragonadal seminoma. Treatment with cisplatin and etoposide resulted in complete resolution of the mediastinal mass, reduction of the size of the retroperitoneal mass and normalisation of LDH. Postchemotherapy positron emission tomography (PET) scan showed a small residual focus of uptake in the retroperitoneal mass and an unexpected focus in the left side of the neck. This was initially thought to represent residual active disease, but an ultrasound (US) scan and US-guided core biopsy of a cervical lymph node demonstrated metastatic papillary thyroid cancer rather than seminoma. A small (1 cm) primary papillary tumour in the thyroid was identified subsequently. The patient received consolidation radiotherapy to the retroperitoneum and underwent total thyroidectomy and neck dissection followed by radio-iodine treatment. He is currently in complete remission from both cancers.

Mosbech CH, Rechnitzer C, Brok JS, et al.
Recent advances in understanding the etiology and pathogenesis of pediatric germ cell tumors.
J Pediatr Hematol Oncol. 2014; 36(4):263-70 [PubMed] Related Publications
Pediatric germ cell tumors (GCTs) are rare neoplasms arising predominantly in the gonads and sacrococcygeal, mediastinal, and intracranial localizations. In this article, we review current knowledge of pathogenesis of pediatric GCTs, which differs from adult/adolescent GCTs. One distinctive feature is the absence of a progenitor stage, such as carcinoma in situ or gonadoblastoma, which are seen in adult/adolescent GCTs, except spermatocytic seminoma. The primordial germ cell (PGC) is the suggested origin of all GCTs, with variations in histology reflecting differentiation stage. Expression of pluripotency transcription factors OCT-3/4, NANOG, and AP-2γ in germinomas/seminomas/dysgerminomas is consistent with retaining a germ cell phenotype. Teratomas, in contrast, develop through a pathway of aberrant somatic differentiation of immature germ cells, and the yolk sac tumors and choriocarcinomas result from abnormal extraembryonic differentiation. In pediatric GCTs, origin is suggested at an earlier developmental stage because of predisposing genetic factors, although responsible genes remain largely unknown. Some extragonadal GCTs have been linked to overexpression of the KIT/KITLG system, allowing for survival of aberrantly migrated ectopic PGCs. Infant gonadal/sacrococcygeal GCTs may be caused by apoptosis-related pathways, consistent with an association with polymorphisms in BAK1. Although recent advances have identified candidate pathways, further effort is needed to answer central questions of pathogenesis of these fascinating tumors.

Yetisyigit T, Babacan N, Urun Y, et al.
Predictors of outcome in patients with advanced nonseminomatous germ cell testicular tumors.
Asian Pac J Cancer Prev. 2014; 15(2):831-5 [PubMed] Related Publications
BACKGROUND: Predictor factors determining complete response to treatment are still not clearly defined. We aimed to evaluate clinicopathological features, risk factors, treatment responses, and survival analysis of patient with advanced nonseminomatous GCTs (NSGCTs).
MATERIALS AND METHODS: Between November 1999 and September 2011, 140 patients with stage II and III NSGCTs were referred to our institutions and 125 patients with complete clinical data were included in this retrospective study. Four cycles of BEP regimen were applied as a first-line treatment. Salvage chemotherapy and/or high-dose chemotherapy (HDCT) with autologous stem cell transplantation were given in patients who progressed after BEP chemotherapy. Post-chemotherapy surgery was performed in selected patients with incomplete radiographic response and normal tumor markers.
RESULTS: The median age was 28 years. For the good, intermediate and poor risk groups, compete response rates (CRR) were, 84.6%, 67.9% and 59.4%, respectively. Extragonadal tumors, stage 3 disease, intermediate and poor risk factors, rete testis invasion were associated with worse outcomes. There were 32 patients (25.6%) with non-CR who were treated with salvage treatment. Thirty-one patients died from GCTs and 94% of them had stage III disease.
CONCLUSIONS: Even though response rates are high, some patients with GCTs still need salvage treatment and cure cannot be achieved. Non-complete response to platinium-based first-line treatment is a negative prognostic factor. Our study confirmed the need for a prognostic and predictive model and more effective salvage approaches.

Alsolamı A, Alotaıbı M, Bazarbashı S, et al.
Seminoma presenting as a polypoid bladder mass: a case report.
Turk Patoloji Derg. 2014; 30(1):69-72 [PubMed] Related Publications
We report a case of extragonadal seminoma presenting as a polypoid mass in the urinary bladder. The patient presented with two months history of hematuria. Evaluation by CT scan and cystoscopic examination revealed a polypoid mass in the base of the bladder. Biopsy of the mass revealed a classical type of seminoma. The diagnosis of seminoma was supported by strong immunostaining of the tumor cells for C-Kit and placental alkaline phosphatase. Thorough physical examination and radiologic imaging of other organ systems failed to reveal any other tumor. Both testes were found to be normal on examination and on ultrasound imaging. Patient responded well to chemotherapy. This case is unique because to the best of our knowledge there are no previously reported cases in the literature with seminoma presenting as a bladder mass.

Hegde P
Extragonadal omental teratoma: a case report.
J Obstet Gynaecol Res. 2014; 40(2):618-21 [PubMed] Related Publications
Mature cystic teratomas or dermoid cysts are among the most common ovarian tumors; however, teratomas of extragonadal origin are extremely rare. The most common extragonadal site of these teratomas is the omentum. It is generally accepted that teratomas arise from germ cells that originate in the mature gonads. Of the three proposed causes of omental teratoma, auto-amputation and subsequent re-implantation of gonadal teratoma is the most likely preceding event. A review of the published reports reveals that only 31 cases of teratoma of the greater omentum have been published to date and three cases reported wherein omental teratoma and dermoid of the ovary were coexisting. We report a rare case of an omental teratoma in a 26-year-old woman who underwent ovarian cystectomy for dermoid cyst. This is the fourth case of an omental mature teratoma with coexisting ovarian dermoid cyst.

Gurda GT, VandenBussche CJ, Yonescu R, et al.
Sacrococcygeal teratomas: clinico-pathological characteristics and isochromosome 12p status.
Mod Pathol. 2014; 27(4):562-8 [PubMed] Related Publications
The biological behavior of teratomas is highly variable, and morphologic features alone are insufficient to predict their clinical course. Prognostic factors that influence behavior include the following: patient sex, age, anatomic site, coincident neoplasm, and cytogenetic abnormalities. Gonadal teratomas have been well-characterized; postpubertal testicular teratomas are commonly associated with isochromosome 12p (i12p) and considered to nearly always carry a potential for malignant behavior, whereas ovarian and prepubertal testicular teratomas are i12p negative and predominantly benign in behavior. For extragonadal sites, such as sacrum and coccyx, clinical characteristics and i12p status are yet to be adequately characterized. As part of this study, we identified 19 sacrococcygeal teratomas in our surgical pathology archives from 1990 to 2012. Clinical records and slides were reviewed to confirm the original diagnosis. Gains in chromosome 12p, including i12p status were assessed in representative paraffin sections by fluorescence in situ hybridization. Our cases included 16 mature sacrococcygeal teratomas (11 prepubertal and 5 postpubertal) and three immature saccrococygeal teratomas (all prepubertal). Among mature teratomas, the average tumor size was larger in adults compared with prepubertal patients. A higher number of adult cases were recurrences (80% vs 21%), but only pediatric recurrences were managed with postoperative chemotherapy. All examined tumors were negative for i12p. 100% survival was documented in our cohort with a median follow-up of 6 years. We present a large series of sacrococcygeal teratomas and the first series to examine postpubertal adults at this anatomic site. All tumors lacked chromosome 12p gains, including i12p. Both pre- and postpubertal sacrococcygeal teratomas had a favorable outcome regardless of age or sex.

Armstrong MA, Pollock GF
Pericarditis and pulmonary artery stenosis due to an extragonadal non-seminomatous germ cell tumor: case report and review of the literature.
J Emerg Med. 2013; 45(5):e157-60 [PubMed] Related Publications
BACKGROUND: Chest pain is a common complaint in the Emergency Department that rarely can be attributed to anterior mediastinal masses.
OBJECTIVES: We review the differential diagnosis for anterior mediastinal masses and their potential consequences.
CASE REPORT: An unusual case of chest pain in a young male patient is presented that is caused by an anterior mediastinal mass associated with pericarditis and right ventricular outflow obstruction.
CONCLUSION: Pericarditis and right ventricular outflow obstruction are potential complications of anterior mediastinal non-seminomatous germ cell tumors.

Rusner C, Trabert B, Katalinic A, et al.
Incidence patterns and trends of malignant gonadal and extragonadal germ cell tumors in Germany, 1998-2008.
Cancer Epidemiol. 2013; 37(4):370-3 [PubMed] Free Access to Full Article Related Publications
BACKGROUND: Malignant gonadal (GGCT) and extragonal germ cell tumors [GCT (EGCT)] are thought to originate from primordial germ cells. In contrast to well reported population-based data of GGCTs in males, analyses of GGCTs in females and EGCTs in both sexes remain limited.
METHODS: In a pooling project of nine population-based cancer registries in Germany for the years 1998-2008, 16,883 malignant GCTs and their topographical sites were identified using ICD-O morphology and topography for persons aged 15 years and older. We estimated age-specific and age-standardized incidence rates.
RESULTS: Among males, the incidence of testicular GCTs increased over time. In contrast, there was no increase in the incidence of EGCTs. Among females, rates of ovarian GCTs were stable, while rates of EGCTs declined over time. The most frequent extragonadal sites were mediastinum among males and placenta among females.
CONCLUSIONS: Our results underline different incidence trends and distinct age-specific incidence patterns of malignant GGCTs and EGCTs, as reported recently by several population-based registries. The differences suggest that GGCT and EGCT may have different etiologies.

Garg A, Nahal A, Turcotte R, et al.
Primitive neuroectodermal tumor (PNET) as somatic-type malignancy arising from an extragonadal germ-cell tumor: clinical, pathological and molecular features of a case.
Tumori. 2013 Jan-Feb; 99(1):e24-7 [PubMed] Related Publications
We report a rare case of a 34-year-old man with a right axillary mass. Ten years previously, he had been diagnosed with a right scapular nonseminomatous germ-cell tumor consisting of teratoma, completely resected without any further treatment. Presently he was found to have a metastatic malignant small round cell tumor consistent with a secondary somatic malignancy arising in the background of nonseminomatous germ-cell tumor, teratoma, yolk sac tumor, and primitive neuroectodermal tumor with distinct chromosome 22 translocation. Although the patient initially responded well to chemotherapy with etoposide, cisplatin, ifosfamide and mesna, he relapsed shortly after.

Gurioli A, Oderda M, Vigna D, et al.
Two cases of retroperitoneal metastasis from a completely regressed burned-out testicular cancer.
Urologia. 2013 Jan-Mar; 80(1):74-9 [PubMed] Related Publications
INTRODUCTION: Primary extragonadal germ cell tumors (EGCT) are rare and it is still a matter of debate if they have to be considered as primary extragonadal issues or metastases from a primary testicular neoplasm. We describe two cases of the so-called burned-out seminoma, a primary testicular germ-cell tumor that spontaneously regressed after demonstration of retroperitoneal metastases.
CASES PRESENTATION: Two patients (35 and 50 years old, respectively) presented with CT findings of retroperitoneal masses. In both cases physical examination of the testis was not suspicious, and only scrotal ultrasound (SUS) showed parenchymal alterations such as scarring, calcifications and nodular lesions. Left orchiectomy and chemotherapy were then performed in both cases. Currently, they are both free of disease.
CONCLUSIONS: Although primary germ cell tumors may be of retroperitoneal origin, the likelihood of metastasis from a testicular primary origin should always be carefully considered in order to avoid misdiagnosis and to apply the best treatment schedule for the patients. Therefore, a testicular ultrasonography is mandatory in patients presenting CT findings of retroperitoneal adenopathy, even if patients are completely asymptomatic and their physical examination appears normal.

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