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Hammond WJ, Farber BA, Price AP, et al.
Paratesticular rhabdomyosarcoma: Importance of initial therapy.
J Pediatr Surg. 2017; 52(2):304-308 [PubMed] Article available free on PMC after 01/02/2018 Related Publications

PURPOSE: To evaluate factors associated with progression-free and disease-specific survival in patients with paratesticular rhabdomyosarcoma, we performed a cohort study. Also, since many patients present to our institution after initial therapy, we analyzed the effects of salvage therapy for scrotal violation.
PATIENTS AND METHODS: We retrospectively reviewed the records of all consecutive patients with histologically confirmed paratesticular rhabdomyosarcoma treated at our institution between 1978 and 2015. Fifty-one patients were initially identified, but two with incomplete data were excluded from analysis. Variables evaluated for correlation with survival were TNM staging, Children's Oncology Group Soft Tissue Sarcoma pretreatment staging, margins at initial resection, presence of scrotal violation, hemiscrotectomy and/or scrotal radiation. The log-rank test was used to compare survival distributions.
RESULTS: For the analytic cohort of 49 patients, the median age and follow-up were 15.7years (95% CI: 14.2-17.5, range: 0.8-25.1years) and 6.9years (95% CI: 4.4-9.0, range 0.2-37.5years), respectively. The 5-year overall disease-specific survival was 78.7% (95% CI: 67.7%-91.4%) and the progression-free survival was 66.9% (95% CI: 54.8%-81.6%). Median time to recurrence was 0.9years (95% CI: 0.7-0.9, range 0.1-6.2years). Scrotal violation occurred in 41% (n=20) and tripled the risk of recurrence for patients not appropriately treated with either hemiscrotectomy or scrotal radiation therapy (RR=3.0, 95% CI: 1.16-7.73).
CONCLUSIONS: The strongest predictors of disease-specific survival were nodal status and distant metastasis at diagnosis. Scrotal violation remains a problem in paratesticular rhabdomyosarcoma and is a predictor of disease progression unless adequately treated. The risk of progression could be reduced with appropriate initial resection.
LEVEL OF EVIDENCE: Level IV; retrospective study with no comparison group.

Related: Rhabdomyosarcoma Testicular Cancer

Casanova M, Basso E, Magni C, et al.
Response to pazopanib in two pediatric patients with pretreated relapsing synovial sarcoma.
Tumori. 2017; 103(1):e1-e3 [PubMed] Related Publications

Pazopanib is an oral multikinase inhibitor that has proved effective in adults treated for relapsing soft tissue sarcoma and synovial sarcoma in particular. Two cases are reported here of pediatric patients with pretreated relapsing synovial sarcoma whose tumors showed a prolonged response to pazopanib given on compassionate grounds. These results suggest that new agents found effective in adult patients might achieve similar results in adolescents with the same disease. Facilitating the availability of new drugs for children and adolescents is a major challenge for pediatric oncologists.

Related: Angiogenesis Inhibitors Synovial Sarcoma Pazopanib (Votrient)

Kollár A, Langer R, Ionescu C, et al.
Pleomorphic rhabdomyosarcoma with an impressive response to chemotherapy: case report and review of the literature.
Tumori. 2016; 102(Suppl. 2) [PubMed] Related Publications

PURPOSE: Pleomorphic rhabdomyosarcoma (RMS) represents a rare sarcoma subtype of the adult population. Due to its clinical characteristics, treatment is currently based on the guidelines for adult soft tissue sarcoma therapy. Hence, in the metastatic setting, doxorubicin-containing regimens are used in the sarcoma community, with limited treatment benefit. Scanty published data are available on the efficacy of systemic treatment. Whether treatment response and outcome of these patients could be improved by using pediatric protocols used typically in other RMS subtypes, like embryonal and alveolar RMS, is unclear. We report on an impressive effect of multiagent pediatric chemotherapy in an adult patient with metastatic pleomorphic RMS.
METHODS: We present the case of a 70-year-old man with metastatic pleomorphic RMS of his left thigh. Systemic chemotherapy according to the VAC regimen (vincristine, actinomycin, cyclophosphamide) was initiated. Follow-up clinical and radiologic assessment demonstrated an impressive treatment response.
RESULTS: Sixteen months after primary diagnosis, computed tomography scan shows no signs of tumor progression.
CONCLUSIONS: Our case report emphasizes that multiagent systemic therapy according to pediatric protocols should be considered in adult patients with pleomorphic RMS.

Related: Cyclophosphamide Doxorubicin Rhabdomyosarcoma Vincristine

Balogh P, Bánusz R, Csóka M, et al.
Primary alveolar rhabdomyosarcoma of the bone: two cases and review of the literature.
Diagn Pathol. 2016; 11(1):99 [PubMed] Article available free on PMC after 01/02/2018 Related Publications

BACKGROUND: Rhabdomyosarcoma (RMS) is a malignant tumor of mesenchymal origin and comprises the largest category of soft-tissue sarcomas both in children and adolescents. From a pediatric oncology point of view, RMS has traditionally been classified into alveolar (ARMS) and embryonal (ERMS) subtypes. The anatomical localization of the tumor may vary, but commonly involve the head/neck regions, male and female urogenital tract or the trunk and extremities.
CASE PRESENTATION: Here, we report two challenging cases involving 17- and 9-years-olds males where diffuse and multiplex bone lesions suggested either a hematological disease or a primary bone tumor (mesenchymal chondrosarcoma). Biopsies, proved a massive infiltration of the bone marrow cavity with rhabdomyosarcoma. In both cases, the ARMS subtype was confirmed using FOXO1 break-apart probes (FISH). Radiological examination could not identify primary soft tissue component in any localization at the time of diagnosis in either cases.
CONCLUSIONS: Primary alveolar rhabdomyosarcoma of the bone as a subtype of ARMS, seems to be a distinct clinico-pathological entity with challenging diagnostic difficulties and different, yet better, biological behavior in comparison to soft tissue ARMS. However, it is difficult to be characterized or predict its prognosis and long-term survival as only sporadic cases (four) were reported so far.

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Williams RF, Fernandez-Pineda I, Gosain A
Pediatric Sarcomas.
Surg Clin North Am. 2016; 96(5):1107-25 [PubMed] Related Publications

Pediatric sarcomas are a heterogeneous group of tumors accounting for approximately 10% of childhood solid tumors. Treatment is focused on multimodality therapy, which has improved the prognosis over the past two decades. Current regimens focus on decreasing treatment for low-risk patients to decrease the long-term side effects while maximizing therapy for patients with metastatic disease to improve survival. Pediatric sarcomas can be divided into soft tissue sarcomas and osseous tumors. Soft tissue sarcomas are further delineated into rhabdomyosarcomas, which affect young children and nonrhabdomyosarcomas, which are most common in adolescents. The most common bone sarcomas are osteosarcomas and Ewing's sarcoma.

Black JO, Coffin CM, Parham DM, et al.
Opportunities for Improvement in Pathology Reporting of Childhood Nonrhabdomyosarcoma Soft Tissue Sarcomas:  A Report From Children's Oncology Group (COG) Study ARST0332.
Am J Clin Pathol. 2016; 146(3):328-38 [PubMed] Related Publications

OBJECTIVES: Treatment of soft tissue tumors in young patients relies on the diagnostic information conveyed in the pathology report. We examined pathology reports from Children's Oncology Group ARST0332 for inclusion of data elements required in published guidelines.
METHODS: Pathology reports for 551 eligible patients were examined for required data elements defined by the College of American Pathologists, including tissue type, procedure, tumor site, tumor maximum diameter, macroscopic extent of tumor, histologic type, mitotic rate, extent of necrosis, tumor grade, margin status, use of ancillary studies, and pathologic stage.
RESULTS: Only 65 (12%) of 551 reports included all required data elements. Of reports containing synoptic templates, 57% were complete.
CONCLUSIONS: This study reveals significant opportunity to improve the quality of pathology reports in young patients with soft tissue tumors. Use of templates or checklists improves completeness of reports.

Mahana S, Tomar R, Agarwal A, et al.
Spindle-cell rhabdomyosarcoma of the thumb: Rare site, rare tumor in a child.
Diagn Cytopathol. 2016; 44(12):1094-1097 [PubMed] Related Publications

Spindle-cell rhabdomyosarcoma (RMS) is a relatively recently recognized favorable variant of embryonal RMS occurring mainly in the paratesticular and head and neck regions. Cytological reports of spindle-cell RMS have been sparse in the literature and the awareness of its cytological features is not very wide among cytopathologists. A 2-year-old girl was brought to clinical attention for a progressively enlarging swelling of right thumb. Imaging studies showed it to be a soft-tissue tumor in the subcutaneous region. Fine-needle aspiration yielded moderately cellular smears composed of small, round cells and few spindle cells with tapered cytoplasm. A cytological impression of RMS was rendered, which was later confirmed as spindle-cell RMS on excision biopsy. Spindle-cell RMS, a favorable prognostic variant of embryonal RMS, should be considered in the cytologic diagnosis of soft-tissue tumors with round cell and spindle cell morphology. This is especially true for tumors occurring in hitherto unreported sites. Diagn. Cytopathol. 2016;44:1094-1097. © 2016 Wiley Periodicals, Inc.

Shabtaie SA, Wang B, Owyong M, et al.
Neonatal kaposiform hemangioendothelioma of the spleen associated with Kasabach-Merritt phenomenon.
J Pediatr Surg. 2016; 51(6):1047-50 [PubMed] Related Publications

Kaposiform hemangioendothelioma is a rare locally aggressive vascular tumor that usually manifests during early childhood. Typically the lesion presents with skin, soft tissue and bone involvement and is characterized histologically by ill-defined nodularity and the presence of spindle cells with resemblance to Kaposi's sarcoma. We report a rare neonatal case of a splenic kaposiform hemangioendothelioma associated with Kasabach-Merritt phenomenon that was diagnosed with radiographic imaging. Because of the rapid onset of thrombocytopenia and anemia, the patient required urgent splenectomy with subsequent resolution of the blood dyscrasias.

Related: Kaposi Sarcoma

Collini P, Barisella M, Renne SL, et al.
Epithelioid angiosarcoma of the thyroid gland without distant metastases at diagnosis: report of six cases with a long follow-up.
Virchows Arch. 2016; 469(2):223-32 [PubMed] Related Publications

We present six cases of epithelioid angiosarcomas (EAS) of the thyroid gland without distant metastases at diagnosis and with a long follow-up. We retrieved the six consecutive cases of thyroid EAS between 2005 and 2011. Gender was equally represented; median age was 60 years (range 53-68). One case was post-irradiation and another post-exposure to vinyl chloride. Median diameter was 6 cm (range 5-13). Regional nodal metastases were present at onset in two cases. All the cases expressed CD31 in a membranous pattern. CD34 was always negative. All the patients underwent complete surgical resection. Neoadjuvant chemotherapy was applied in one case and adjuvant chemotherapy in four cases with adjuvant radiation therapy in one case. Follow-up until June 2015 was available in five cases. Median follow-up was 59 months (range 9-82). Three patients relapsed. Two patients (the post-irradiation and post vinyl chloride exposure cases) died of disease after 36 and 9 months, after a local relapse soon followed by distant metastases. Three patients are alive and well after 59, 70, and 82 months, including a patient with a relapse treated with neoadjuvant chemotherapy and surgery. In conclusion, thyroid EAS without distant metastases at diagnosis are very rare tumors. They all expressed CD31, while CD34 was always negative. Distant metastases developed together with local relapse, rapidly followed by death. Inadequate surgery contributed to poor outcome. Cases with previous exposure to irradiation and vinyl chloride showed a particularly poor behavior.

Related: Thyroid Cancer

Hingorani P, Janeway K, Crompton BD, et al.
Current state of pediatric sarcoma biology and opportunities for future discovery: A report from the sarcoma translational research workshop.
Cancer Genet. 2016; 209(5):182-94 [PubMed] Related Publications

Sarcomas are a rare subgroup of pediatric cancers comprised of a variety of bone and soft-tissue tumors. While significant advances have been made in improving outcomes of patients with localized pediatric sarcomas since the addition of systemic chemotherapy to local control many decades ago, outcomes for patients with metastatic and relapsed sarcoma remain poor with few novel therapeutics identified to date. With the advent of new technologies to study cancer genomes, transcriptomes and epigenomes, our understanding of sarcoma biology has improved tremendously in a relatively short period of time. However, much remains to be accomplished in this arena especially with regard to translating all of this new knowledge to the bedside. To this end, a meeting was convened in Philadelphia, PA, on April 18, 2015 sponsored by the QuadW foundation, Children's Oncology Group and CureSearch for Children's Cancer that brought together sarcoma clinicians and scientists from North America to review the current state of pediatric sarcoma biology and ongoing/planned genomics based clinical trials in an effort to identify and bridge knowledge gaps that continue to exist at present. At the conclusion of the workshop, three key objectives that would significantly further our understanding of sarcoma were identified and a proposal was put forward to develop an all-encompassing pediatric sarcoma biology protocol that would address these specific needs. This review summarizes the proceedings of the workshop.

Lozano-Calderón SA, Swaim SO, Federico A, et al.
Predictors of soft-tissue complications and deep infection in allograft reconstruction of the proximal tibia.
J Surg Oncol. 2016; 113(7):811-7 [PubMed] Related Publications

BACKGROUND AND OBJECTIVES: Reconstruction of the proximal tibia after wide resection of malignant tumors in the pediatric population is very challenging. Advocates of allograft reconstruction argue as advantages bone preservation, biological reconstruction that facilitates reattachment of the extensor mechanism and other soft-tissue structures, delay of metallic prosthesis use and preservation of the distal femoral growth plate. However, complications are significant, infection being very common.
METHODS: Under IRB-approved protocol, 32 patients (17 males, 15 females), 13 years old in average (2-20), who underwent 33 allograft reconstructions of the proximal tibia, were evaluated for the occurrence of soft-tissue complications and/or deep infection (infection affecting the allograft). Potential predictors of soft-tissue complications and deep infection, categorized as pre- and perioperative variables, were analyzed in relation to the risk for developing a soft-tissue complication or a deep infection.
RESULTS: The prevalence of soft-tissue complications was 48% (16/33). However, we were not able to identify any significant predictors. The prevalence of deep (allograft) infection was 15% (5/33). Multivariate logistic regression determined higher BMI at the index surgical procedure and lower pre-operative WBC to be independent predictors of deep infection. For each unit of increase in BMI, the odds of deep infection increased by 40% (OR = 1.40; CI = 1.07-3.06; P < 0.05). For each one unit (1,000) of increase in the pre-operative white cell-count, the odds of deep infection decreased by 70% (OR = 0.30; 95%CI = 0.01-0.89; P < 0.05). Four of the five deep infections were in patients with soft-tissue complications, mainly wound dehiscence. However, wound dehiscence or soft-tissue complications were not predictive of deep infection.
CONCLUSION: Soft-tissue complications are prevalent in allograft reconstruction of the proximal tibia. Prevention is important as these may progress to deep infection. Careful attention to nutritional (BMI) and immunological status may help in patient selection for allograft reconstruction. If allograft reconstruction is opted for, efforts should focus on optimization of these factors as they proved to be independent predictors of subsequent deep infection. J. Surg. Oncol. 2016;113:811-817. © 2016 Wiley Periodicals, Inc.

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Karagianni P, Lambropoulos V, Stergidou D, et al.
Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited.
Am J Med Genet A. 2016; 170A(5):1333-8 [PubMed] Related Publications

Kabuki syndrome is a genetic condition characterized by distinctive facial phenotype, mental retardation, and internal organ malformations. Mutations of the epigenetic genes KMT2D and KDM6A cause dysregulation of certain developmental genes and account for the multiple congenital anomalies of the syndrome. Eight cases of malignancies have been reported in young patients with Kabuki syndrome although a causative association to the syndrome has not been established. We report a case of a 12-year-old girl with Kabuki syndrome who developed a tumor on the right side of her neck. A relapsing tumor 19 months after initial excision, proved to be giant cell fibroblastoma. Τhis is the first report of giant cell fibroblastoma -a rare tumor of childhood- in a patient with Kabuki syndrome.

Related: Dermatofibrosarcoma Protuberans MLL2

Haller F, Knopf J, Ackermann A, et al.
Paediatric and adult soft tissue sarcomas with NTRK1 gene fusions: a subset of spindle cell sarcomas unified by a prominent myopericytic/haemangiopericytic pattern.
J Pathol. 2016; 238(5):700-10 [PubMed] Related Publications

Neoplasms with a myopericytomatous pattern represent a morphological spectrum of lesions encompassing myopericytoma of the skin and soft tissue, angioleiomyoma, myofibromatosis/infantile haemangiopericytoma and putative neoplasms reported as malignant myopericytoma. Lack of reproducible phenotypic and genetic features of malignant myopericytic neoplasms have prevented the establishment of myopericytic sarcoma as an acceptable diagnostic category. Following detection of a LMNA-NTRK1 gene fusion in an index case of paediatric haemangiopericytoma-like sarcoma by combined whole-genome and RNA sequencing, we identified three additional sarcomas harbouring NTRK1 gene fusions, termed 'spindle cell sarcoma, NOS with myo/haemangiopericytic growth pattern'. The patients were two children aged 11 months and 2 years and two adults aged 51 and 80 years. While the tumours of the adults were strikingly myopericytoma-like, but with clear-cut atypical features, the paediatric cases were more akin to infantile myofibromatosis/haemangiopericytoma. All cases contained numerous thick-walled dysplastic-like vessels with segmental or diffuse nodular myxohyaline myo-intimal proliferations of smooth muscle actin-positive cells, occasionally associated with thrombosis. Immunohistochemistry showed variable expression of smooth muscle actin and CD34, but other mesenchymal markers, including STAT6, were negative. This study showed a novel variant of myo/haemangiopericytic sarcoma with recurrent NTRK1 gene fusions. Given the recent introduction of a novel therapeutic approach targeting NTRK fusion-positive neoplasms, recognition of this rare but likely under-reported sarcoma variant is strongly encouraged.

Related: FISH NTRK1

Orbach D, Brennan B, De Paoli A, et al.
Conservative strategy in infantile fibrosarcoma is possible: The European paediatric Soft tissue sarcoma Study Group experience.
Eur J Cancer. 2016; 57:1-9 [PubMed] Related Publications

BACKGROUND: Infantile fibrosarcoma (IFS) is a very rare disease occurring in young infants characterised by a high local aggressiveness but overall with a favourable survival. To try to reduce the total burden of therapy, the European pediatric Soft tissue sarcoma Study Group has developed conservative therapeutic recommendations according to initial resectability.
MATERIAL AND METHODS: Between 2005 and 2012, children with localised IFS were prospectively registered. Initial surgery was suggested only if possible without mutilation. Patients with initial complete (IRS-group I/R0) or microscopic incomplete (group II/R1) resection had no further therapy. Patients with initial inoperable tumour (group III/R2) received first-line vincristine-actinomycin-D chemotherapy (VA). Delayed conservative surgery was planned after tumour reduction. Aggressive local therapy (mutilating surgery or external radiotherapy) was discouraged.
RESULTS: A total of 50 infants (median age 1.4 months), were included in the study. ETV6-NTRK3 transcript was present in 87.2% of patients where investigation was performed. According to initial surgery, 11 patients were classified as group I, 8 as group II and 31 as group III. VA chemotherapy was first delivered to 25 children with IRS-III/R2 and one with IRS-II/R1 disease. Response rate to VA was 68.0%. Mutilating surgery was only performed in three cases. After a median follow-up of 4.7 years (range 1.9-9.0), 3-year event-free survival and overall survival were respectively 84.0% (95% confidence interval [CI] 70.5-91.7) and 94.0% (95% CI 82.5-98.0).
CONCLUSIONS: Conservative therapy is possible in IFS as only three children required mutilating surgery, and alkylating or anthracycline based chemotherapy was avoided in 71.0% of patients needing chemotherapy. VA regimen should be first line therapy in order to reduce long term effects.

Related: Dactinomycin Vincristine

Theisen ER, Pishas KI, Saund RS, Lessnick SL
Therapeutic opportunities in Ewing sarcoma: EWS-FLI inhibition via LSD1 targeting.
Oncotarget. 2016; 7(14):17616-30 [PubMed] Article available free on PMC after 01/02/2018 Related Publications

Ewing sarcoma is an aggressive primary pediatric bone tumor, often diagnosed in adolescents and young adults. A pathognomonic reciprocal chromosomal translocation results in a fusion gene coding for a protein which derives its N-terminus from a FUS/EWS/TAF15 (FET) protein family member, commonly EWS, and C-terminus containing the DNA-binding domain of an ETS transcription factor, commonly FLI1. Nearly 85% of cases express the EWS-FLI protein which functions as a transcription factor and drives oncogenesis. As the primary genomic lesion and a protein which is not expressed in normal cells, disrupting EWS-FLI function is an attractive therapeutic strategy for Ewing sarcoma. However, transcription factors are notoriously difficult targets for the development of small molecules. Improved understanding of the oncogenic mechanisms employed by EWS-FLI to hijack normal cellular programming has uncovered potential novel approaches to pharmacologically block EWS-FLI function. In this review we examine targeting the chromatin regulatory enzymes recruited to conspire in oncogenesis with a focus on the histone lysine specific demethylase 1 (LSD1). LSD1 inhibitors are being aggressively investigated in acute myeloid leukemia and the results of early clinical trials will help inform the future use of LSD1 inhibitors in sarcoma. High LSD1 expression is observed in Ewing sarcoma patient samples and mechanistic and preclinical data suggest LSD1 inhibition globally disrupts the function of EWS-ETS proteins.

Related: Bone Cancers FLI1 Ewing's Sarcoma KDM1A

Zenitani M, Nojiri T, Uehara S, et al.
C-type natriuretic peptide in combination with sildenafil attenuates proliferation of rhabdomyosarcoma cells.
Cancer Med. 2016; 5(5):795-805 [PubMed] Article available free on PMC after 01/02/2018 Related Publications

Rhabdomyosarcoma (RMS) is a malignant mesenchymal tumor and the most common soft tissue sarcoma in children. Because of several complications associated with intensive multimodal therapies, including growth disturbance and secondary cancer, novel therapies with less toxicity are urgently needed. C-type natriuretic peptide (CNP), an endogenous peptide secreted by endothelial cells, exerts antiproliferative effects in multiple types of mesenchymal cells. Therefore, we investigated whether CNP attenuates proliferation of RMS cells. We examined RMS patient samples and RMS cell lines. All RMS clinical samples expressed higher levels of guanylyl cyclase B (GC-B), the specific receptor for CNP, than RMS cell lines. GC-B expression in RMS cells decreased with the number of passages in vitro. Therefore, GC-B stable expression lines were established to mimic clinical samples. CNP increased cyclic guanosine monophosphate (cGMP) levels in RMS cells in a dose-dependent manner, demonstrating the biological activity of CNP. However, because cGMP is quickly degraded by phosphodiesterases (PDEs), the selective PDE5 inhibitor sildenafil was added to inhibit its degradation. In vitro, CNP, and sildenafil synergistically inhibited proliferation of RMS cells stably expressing GC-B and decreased Raf-1, Mitogen-activated protein kinase kinase (MEK), and extracellular signal-regulated kinase (ERK) phosphorylation. These results suggested that CNP in combination with sildenafil exerts antiproliferative effects on RMS cells by inhibiting the Raf/MEK/ERK pathway. This regimen exerted synergistic effects on tumor growth inhibition without severe adverse effects in vivo such as body weight loss. Thus, CNP in combination with sildenafil represents a promising new therapeutic approach against RMS.

Related: Rhabdomyosarcoma

Alaggio R, Coffin CM
The Evolution of Pediatric Soft Tissue Sarcoma Classification in the Last 50 Years.
Pediatr Dev Pathol. 2015 Nov-Dec; 18(6):481-94 [PubMed] Related Publications

This review discusses the history of the classification of soft tissue sarcomas in children and adolescents, the current transition toward integration of morphology and molecular genetics as new entities emerge, and future perspectives.

Yao L, Wang J, Jiang Y, et al.
Permanent interstitial 125I seed implantation as a salvage therapy for pediatric recurrent or metastatic soft tissue sarcoma after multidisciplinary treatment.
World J Surg Oncol. 2015; 13:335 [PubMed] Article available free on PMC after 01/02/2018 Related Publications

BACKGROUND: The management of pediatric recurrent or metastatic soft tissue sarcoma after multimodal treatment remains challenging. We investigated the feasibility, efficacy, and morbidity of permanent interstitial (125)I seed implantation under image guidance as a salvage treatment for pediatric patients with recurrent or metastatic soft tissue sarcoma.
METHODS: This was a retrospective study of 10 patients who underwent percutaneous ultrasound or computed tomography (CT) guided permanent (125)I seed implantation. Postoperative dosimetry was performed for all patients. Actuarial D90 was 121-187.1 Gy (median, 170.3 Gy). The number of (125)I seeds implanted was 6-158 (median, 34.5), with a median specific activity of 0.7 mCi per seed (range, 0.62-0.8 mCi); total activity was 4.2-113.76 mCi. Follow-up time was 6-107 months (median, 27.5 months); no patients were lost to follow-up.
RESULTS: The overall response rate (complete response + partial response) was 8/10 (80 %), including two patients with complete response (CR) (20 %) and five patients with partial response (PR) (60 %). Local control rates after 1 and 2 years were 70.1 and 62.3 %, respectively, with a mean local control time of 70.6 months (95 % confidence interval (CI) 45.1-96.0). Survival rates after 1 and 2 years were 68.6 and 57.1 %, respectively, with a mean survival time of 65.3 months (95 % CI 34.1-96.5). Three patients died from distant metastasis; one died from local recurrence 12 months after seed implantation. Three patients suffered a grade I skin reaction and one developed ulceration. No severe adverse neurologic sequelae or blood vessel damage occurred.
CONCLUSIONS: Image guided permanent interstitial (125)I seed implantation as a salvage treatment appears to have a satisfactory outcome in children with recurrent or metastatic soft tissue sarcoma.

Related: Brachytherapy

Kritsaneepaiboon S, Sangkhathat S, Mitarnun W
Primary synovial sarcoma of the abdominal wall: a case report and literature review.
J Radiol Case Rep. 2015; 9(7):47-52 [PubMed] Article available free on PMC after 01/02/2018 Related Publications

Synovial sarcoma (SS) is the fourth most common type of soft tissue sarcoma, following malignant fibrous histiocytoma, liposarcoma, and rhabdomyosarcoma. It usually occurs in the extremities near the large joints of middle-aged patients. We describe a case of synovial sarcoma of the anterior abdominal wall (SSAW) in an adolescent girl and undertake a review of the literature.

Related: Synovial Sarcoma

Ishida Y, Qiu D, Maeda M, et al.
Secondary cancers after a childhood cancer diagnosis: a nationwide hospital-based retrospective cohort study in Japan.
Int J Clin Oncol. 2016; 21(3):506-16 [PubMed] Related Publications

BACKGROUND: The epidemiology of secondary cancers in childhood cancer survivors has been unknown in Asian countries. Our aim is to assess the incidence and risk factors for secondary cancers through a nationwide survey in Japan.
METHODS: A retrospective cohort study comprising 10,069 children who were diagnosed with cancer between 1980 and 2009 was conducted in 15 Japanese hospitals. The cumulative incidence rate was calculated using death as the competing risk and compared by the Gray method. The standardized incidence ratio (SIR) was defined as the ratio of the number of observed cancers divided by the number of expected cancers. The risk factors were analyzed using Cox regression analysis.
RESULTS: One hundred and twenty-eight patients (1.3 %) developed secondary cancers within a median follow-up of 8.4 years. The cumulative incidence rate was 1.1 % (95 % confidence interval [CI] 0.9-1.4) at 10 years and 2.6 % (95 % CI 2.1-3.3) at 20 years after primary cancer diagnosis. Sensitivity analysis, limited to 5-year survivors (n = 5,387), confirmed these low incidence rates. The SIR of secondary cancers was 12.1 (95 % CI 10.1-14.4). In the Cox analysis, the hazard ratios for secondary cancers were 3.81 (95 % CI 1.53-9.47) for retinoblastoma, 2.78 (95 % CI 1.44-5.38) for bone/soft tissue sarcomas, and 1.81 (95 % CI 1.16-2.83) for allogeneic stem cell transplantation.
CONCLUSIONS: The cumulative incidence of secondary cancers in children in Japan was not high; however, the SIR was relatively high. Retinoblastoma or sarcoma in addition to allogeneic stem cell transplantation were significant risk factors for secondary cancers.

Related: Bone Cancers Retinoblastoma Stem Cell and Bone Marrow Transplants

Piper M, Irwin C, Sbitany H
Pediatric lower extremity sarcoma reconstruction: A review of limb salvage procedures and outcomes.
J Plast Reconstr Aesthet Surg. 2016; 69(1):91-6 [PubMed] Related Publications

BACKGROUND: In recent years, dramatic advances in the multidisciplinary treatment of pediatric sarcoma have resulted in significant improvement in the long-term survival of the patient. Thus, following tumor resection, significant effort has gone into limb salvage and improving functional outcomes. Plastic surgeons, in conjunction with orthopedic surgeons, are using techniques in microvascular free-tissue transfer and rotational flap surgery to preserve limb length. This study presents a review of the current reconstructive strategies and the oncologic, surgical, and functional outcomes in this population.
METHODS: Using the Pubmed and Cochrane Library databases, studies describing lower extremity plastic surgical reconstruction were identified following pediatric lower extremity sarcoma resection. This study included those studies which described reconstructive techniques, oncologic and functional outcomes, and surgical complications.
RESULTS: A total of nine articles were identified, yielding 96 pediatric patients. The most common procedures performed were free fibular flaps (53 patients) followed by pedicled muscle flaps (31 patients). A total of 72 of 96 patients (75%) achieved independent ambulation, and an additional 19 patients (20%) ambulated with assistance. There were only three (3%) amputations. A total of 13 patients died from metastatic disease (14%).
CONCLUSIONS: Plastic surgery procedures play an increasingly important role in pediatric lower extremity sarcoma reconstruction and functional limb salvage. Published series are limited in number and case volume; to date, no systematic review has been published. The existing data emphasize the role of microvascular free-fibula transfer as well as local muscle flap coverage in preserving limb length and function, with minimal risk of local recurrence and need for amputation.

Bhatt N, Deady S, Gillis A, et al.
Epidemiological study of soft-tissue sarcomas in Ireland.
Cancer Med. 2016; 5(1):129-35 [PubMed] Article available free on PMC after 01/02/2018 Related Publications

Soft-tissue sarcomas (STS) account for 1% of adult and 7% of pediatric malignancies. Histopathology and classification of these rare tumors requires further refinements. The aim of this paper is to describe the current incidence and survival of STS from 1994 to 2012 in Ireland and compare these with comparably coded international published reports. This is a retrospective, population study based on the data from the National Cancer Registry of Ireland (NCRI). Incidence and relative survival rates for STS in Ireland were generated. Incidence of STS based on gender, age and anatomical location was examined. Annual mean incidence rate (European Age Standardized) in Ireland between 1994 and 2012 was 4.48 ± 0.15 per 100,000 person-years. The overall relative 5-year survival rate of STS for the period 1994-2011 in Ireland was 56%, which was similar to that reported in the U.K. but lower than in most of Europe and U.S.A. Survival rate fluctuated over the period examined, declining slightly in females but showing an increase in males. STS incidence trends in Ireland were comparable to international reports. Survival trends of STS were significantly different between Ireland and other European countries, requiring further study to understand causation.

Zeytun H, Okur MH, Basuguy E, et al.
Congenital-infantile fibrosarcoma of the ileocecal region: the first case presentation.
Pediatr Surg Int. 2016; 32(1):97-9 [PubMed] Related Publications

Infantile fibrosarcoma is a very rare soft tissue tumor that originates most commonly in the body and extremities. We present a neonate with an infantile fibrosarcoma that originated in the ileocecal region and was detected incidentally without symptoms. This is the first case of fibrosarcoma reported in the ileocecal region.

Harel M, Ferrer FA, Shapiro LH, Makari JH
Future directions in risk stratification and therapy for advanced pediatric genitourinary rhabdomyosarcoma.
Urol Oncol. 2016; 34(2):103-15 [PubMed] Related Publications

Rhabdomyosarcoma (RMS) represents the most common soft tissue sarcoma in infants and children and the third most common pediatric solid tumor, accounting for 5% to 15% of all childhood solid tumors. Of these, 15% to 20% arise from the genitourinary tract, with the most common sites originating from the prostate, bladder, and paratesticular regions, followed by the vagina and uterus. Although upfront radical surgery was used at the initiation of Intergroup RMS Study-I (1972-1978), the treatment paradigm has shifted to include initial biopsy with the goal of organ preservation, systemic chemotherapy for all patients, and local control involving surgical resection with or without radiation therapy for most patients. Collaborative group clinical trials have led to dramatic improvement in survival rates from 1960 to 1996 among patients with low- or intermediate-risk disease; however, outcomes appear to have plateaued in more recent years, and the prognosis for patients with metastatic or relapsed/refractory disease remains poor. Current management goals include minimizing toxicity while maintaining the excellent outcomes in low-risk disease, as well as improving outcomes in patients with intermediate- and high-risk disease. Advances in genetic analysis have allowed further refinement in risk stratification of patients. Perhaps the most significant recent development in RMS research was the discovery of an association of alveolar RMS (ARMS) with translocations t(2;13) and t(1;13). Translocation fusion-positive tumors comprise 80% of ARMS and are more aggressive. Fusion-negative ARMS may have a clinical course similar to embryonal RMS. Future Children's Oncology Group sarcoma studies will likely incorporate fusion status into risk stratification and treatment allocation. Newer radiotherapy modalities hold promise for providing local control of disease while minimizing morbidity. The addition of traditional cytotoxic chemotherapeutic agents does not seem to improve outcomes in high-risk patients. Ultimately, the most substantial progress may arise from further elucidation of genetic and molecular pathways involved in RMS tumor formation in an effort to identify novel, targeted therapeutic approaches.

Related: Rhabdomyosarcoma

Astolfi A, Melchionda F, Perotti D, et al.
Whole transcriptome sequencing identifies BCOR internal tandem duplication as a common feature of clear cell sarcoma of the kidney.
Oncotarget. 2015; 6(38):40934-9 [PubMed] Article available free on PMC after 01/02/2018 Related Publications

PURPOSE: Clear cell sarcoma of the kidney (CCSK) is a rare pediatric renal tumor that is frequently difficult to distinguish among other childhood renal tumors due to its histological heterogeneity. This work evaluates genetic abnormalities carried by a series of CCSK samples by whole transcriptome sequencing (WTS), to identify molecular biomarkers that could improve the diagnostic process.
METHODS: WTS was performed on tumor RNA from 8 patients with CCSK. Bioinformatic analysis, with implementation of a pipeline for detection of intragenic rearrangements, was executed. Sanger sequencing and gene expression were evaluated to validate BCOR internal tandem duplication (ITD).
RESULTS: WTS did not identify any shared SNVs, Ins/Del or fusion event. Conversely, analysis of intragenic rearrangements enabled the detection of a breakpoint within BCOR transcript recurrent in all samples. Three different in-frame ITD in exon15 of BCOR, were detected. The presence of the ITD was confirmed on tumor DNA and cDNA, and resulted in overexpression of BCOR.
CONCLUSIONS: WTS coupled with specific bioinformatic analysis is able to detect rare genetic events, as intragenic rearrangements. ITD in the last exon of BCOR is recurrent in all CCSK samples analyzed, representing a valuable molecular marker to improve diagnosis of this rare childhood renal tumor.

Related: Kidney Cancer BCOR

Yamaga K, Kobayashi E, Kubota D, et al.
Pediatric myositis ossificans mimicking osteosarcoma.
Pediatr Int. 2015; 57(5):996-9 [PubMed] Related Publications

Myositis ossificans (MO) is a rare benign cause of heterotopic bone formation in soft tissue that most commonly affects young adults, typically following trauma. We report the case of an 11-year-old girl who developed MO mimicking osteosarcoma in her right shoulder. Plain radiography and computed tomography showed poorly defined flocculated densities in the soft tissue and a periosteal reaction along the proximal humerus. On magnetic resonance imaging, the mass displayed an ill-defined margin and inhomogeneous signal change. Histologically, the mass had a pseudosarcomatous appearance. Based on these findings, the patient was initially misdiagnosed with osteosarcoma at another hospital. The diagnosis was difficult because the patient was 11 years old and had no trauma history, with atypical radiographic changes and a predilection for the site of origin for osteosarcomas. We finally made the correct diagnosis of MO by carefully reviewing and reflecting on the pathological differences between stages.

Related: Bone Cancers Osteosarcoma

Chirat M, Dainese L, Fasola S, et al.
Unusual outer ear swelling: Childhood auricular rhabdomyosarcoma.
Eur Ann Otorhinolaryngol Head Neck Dis. 2016; 133(1):23-6 [PubMed] Related Publications

INTRODUCTION: Rhabdomyosarcoma (RMS) is the most frequent soft-tissue sarcoma in children and makes up 5% of all pediatric malignant tumors. The main head and neck locations are the base of the skull, nasopharynx, nasal cavity and orbit. An outer ear location is considered extremely rare. We present 3 cases of children, aged 6 to 14 years, presenting with auricular RMS.
CASE REPORTS: The first child, aged 6, was managed by 4 chemotherapy cycles followed by surgical resection of the tumor bed, completed by 5 further cycles of chemotherapy. The second, aged 14, was managed by 4 chemotherapy cycles followed by external radiation therapy of the tumor bed and lymph node areas, completed by 5 further cycles of chemotherapy. The third, aged 13, was managed by 4 chemotherapy cycles followed by surgery, completed by 5 further cycles of chemotherapy.
DISCUSSION: In these 3 patients, the treatment program achieved complete disease control. Prognosis was good, thanks to good surgical access. Diagnosis should be considered in case of unusual progressive swelling in the outer ear.

Related: Rhabdomyosarcoma

Walther C, Mayrhofer M, Nilsson J, et al.
Genetic heterogeneity in rhabdomyosarcoma revealed by SNP array analysis.
Genes Chromosomes Cancer. 2016; 55(1):3-15 [PubMed] Related Publications

Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children and adolescents. Alveolar (ARMS) and embryonal (ERMS) histologies predominate, but rare cases are classified as spindle cell/sclerosing (SRMS). For treatment stratification, RMS is further subclassified as fusion-positive (FP-RMS) or fusion-negative (FN-RMS), depending on whether a gene fusion involving PAX3 or PAX7 is present or not. We investigated 19 cases of pediatric RMS using high resolution single-nucleotide polymorphism (SNP) array. FP-ARMS displayed, on average, more structural rearrangements than ERMS; the single FN-ARMS had a genomic profile similar to ERMS. Apart from previously known amplification (e.g., MYCN, CDK4, and MIR17HG) and deletion (e.g., NF1, CDKN2A, and CDKN2B) targets, amplification of ERBB2 and homozygous loss of ASCC3 or ODZ3 were seen. Combining SNP array with cytogenetic data revealed that most cases were polyploid, with at least one case having started as a near-haploid tumor. Further bioinformatic analysis of the SNP array data disclosed genetic heterogeneity, in the form of subclonal chromosomal imbalances, in five tumors. The outcome was worse for patients with FP-ARMS than ERMS or FN-ARMS (6/8 vs. 1/9 dead of disease), and the only children with ERMS showing intratumor diversity or with MYOD1 mutation-positive SRMS also died of disease. High resolution SNP array can be useful in evaluating genomic imbalances in pediatric RMS.

Related: Rhabdomyosarcoma

Hung GY, Yen CC, Horng JL, et al.
Incidences of Primary Soft Tissue Sarcoma Diagnosed on Extremities and Trunk Wall: A Population-Based Study in Taiwan.
Medicine (Baltimore). 2015; 94(41):e1696 [PubMed] Article available free on PMC after 01/02/2018 Related Publications

Most epidemiological studies of soft tissue sarcoma (STS) were performed in the Western countries, and only limited data highlighting that in the Asian population. The aim of this study is to conduct a comprehensive analysis for the incidence rates of STS in Taiwan.This was a population-based study analyzing the incidence rates and trends of the primary STS over extremities and trunk wall during 2003 to 2011 by using the nationwide Taiwan Cancer Registry. More specific analyses were conducted for subtypes. Incidence rates of overall STS by cities and counties were also investigated.A total of 3843 cases were diagnosed with STS during the study period, giving an age-standardized rate (ASR) of 1.63 per 100,000 person-years. Liposarcoma was the most frequent subtype, followed by undifferentiated pleomorphic sarcoma and leiomyosarcoma. STS was more frequently diagnosed in males and angiosarcoma was the most prominent sex-specific type. ASR increased with age in most of the STS subtypes and varied by histologic subtype. The incidence of peripheral primitive neuroectodermal tumor was highest in children, whereas rhabdomyosarcoma revealed a bimodal age distribution. Annual percent change (APC) of STS was 2.2%, and significant change in trend was only in males (APC, 3.5%, P < 0.05). Geographical variations indicated that New Taipei City had a significantly higher rate compared with the rest areas. Significantly lower rates were observed in 1 major offshore island.Incidence variations of STS by sexes, ages, histologic subtypes, and geographic regions were observed in Taiwanese population. The emerging factors associated STS incidence rates deserve further studies to verify.

Zreik RT, Meyer RG, Jenkins RB, et al.
A Rare Pediatric Example of Subcutaneous Extraskeletal Osteosarcoma: A Case Report and Review of the Morphologic Differential Diagnosis.
Am J Dermatopathol. 2016; 38(4):e44-8 [PubMed] Related Publications

Primary extraskeletal osteosarcoma is an exceedingly rare malignant neoplasm that accounts for approximately 1% of soft tissue sarcomas and most often occurs in the deep soft tissues of adults. Extraskeletal osteosarcoma is characterized by the production of osteoid, bone, and/or chondroid matrix. The diagnosis of extraskeletal osteosarcoma requires careful radiologic and clinical correlation to ensure that the patient does not have an underlying bone primary. This is a case report of primary subcutaneous extraskeletal osteosarcoma arising in the thigh of a 15-year-old girl with a complex karyotype, and the morphologic differential diagnosis is reviewed.

Related: Osteosarcoma

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