Third Report of t(19q)(13.4) in Mesenchymal Hamartoma of Liver with Comments on Link to Embryonal Sarcoma

We report the third known case of mesenchymal hamartoma of the liver (MHL) with a balanced translocation involving a common breakpoint, 19q13.4. A common clonal chromosome abnormality appears to characterize an important subset of MHL, some of which may be low-grade neoplasms. We found no consistent karyotype abnormality in a post-treatment sample of embryonal sarcoma of the liver (ESL). Reports of coexistent MHL and ESL in two patients and detection of 19q abnormalities in two ESLs appear to support Stocker's hypothesis of a histogenetic link between these two rare liver lesions. More data are needed to clarify this relationship. It is possible that MHLs are etiologically heterogenous and may be developmental disorders, disruptions, or neoplasms. Received May 6, 1997; accepted September 19, 1997.     

Undifferentiated (Embryonal) Liver Sarcoma of Childhood: Evidence of Leiomyoblastic Differentiation

This report describes the clinical, histopathologic, and ultrastructural features of a tumor of the liver arising in an 11-month-old infant and displaying the morphology of undifferentiated (embryonal) sarcoma. The floss presentation and clinical manifestations showed some overlap with features often considered distinctive of embryonal rhabdomyosarcoma primary of bile ducts. However, electron microscopic study disclosed only fibroblastic and leiomyoblastic differentiation in biopsies of recurrent tumor, close to 2 years after the original diagnosis. Theoretical implications of this finding are discussed.     

EXTRA-OSSEOUS EWING SARCOMA

Background: Clinical data and data on outcome of extra-osseous Ewing tumors are scarce. Procedure: After a search for Ewing tumors in the database of a single institution over a period of 20 years, 16 out of 192 cases were found to have extra-osseous primary tumors. Results: Ages at initial diagnosis ranged from 2.5 to 17 years. Follow-up period ranged from 4 months to 24.8 years (mean 8.4 years). Eleven patients were treated according to protocols for Ewing tumors, while in 4 cases soft tissue protocols were used. In a single patient only surgery was done. Two patients had progressive disease despite chemotherapy; a third patient had only tumor response on the initial 2 chemotherapy courses. All 3 patients with initially metastatic disease died. One patient developed a second malignancy. Overall survival at 5 years was 75%. Event-free survival (EFS) at 5 years was 68%; for nonmetastatic patients 5-year EFS was 83%. Conclusion: The authors conclude that nonmetastasized extra-osseous Ewing tumors have a prognosis at least similar to that of osseous Ewing tumors.     

Meningeal Tumors of Infancy and Childhood

Seventeen meningeal tumors were examined for pathology with electron microscopy and immunohistochemistry including glial fibrillary acidic protein (GFAP), S-100 protein, muramidase, and factor VIII. These tumors included seven meningiomas, one hemangiopericytoma, three meningeal sarcomas (1 pleomorphic-cell type and 2 myxofibrosarcomas), two fibrous histiocytomas, and four malignant melanomas. Two of seven children with meningioma had a poor outcome despite the benign histological features of the tumor. S-100 protein was present in the two tumors. All three children with meningeal sarcoma had a rapid downhill clinical course, although the myxofibrosarcoma initially had a relatively benign histological appearance. The two children with fibrous histiocytoma did well despite the aggressive histological features. Muramidase was a good marker of such tumors. Because of the morphological difficulties associated with childhood meningeal tumors, both electron microscopy and immunohistochemistry can be of diagnostic benefit.     

“Proximal-type” and Classic Epithelioid Sarcomas Represent a Clinicopathologic Continuum: Case Report

We report a case of an epithelioid sarcoma that occurred in the right hand of a 14–year-old boy and had the proximal-type morphology and a complex, near-tetraploid karyotype. The tumor metastasized to the lungs, where the morphology was typical for the classic epithelioid sarcoma. Based on the morphologic and cytogenetic findings in this case, we suggest that the proximal-type and the classic epithelioid sarcomas are not distinct entities but represent a continuum.     

Role of irradiation in management of synovial sarcoma: St. Jude Children's Research Hospital experience

The role of irradiation in the management of synovial sarcoma (SS) in pediatric patients is evaluated. The review covers all children seen at St. Jude Children's Research Hospital between May 1969 and December 1992 with the diagnosis of soft tissue sarcoma, of the 37 patients with the subtype SS, 16 received irradiation for the management of primary site disease. There were four IRS Group I, six Group II, four Group III, and two Group IV patients receiving irradiation. Tumor grade included seven Grade II and nine Grade III lesions. TMN staging identified eight T1 and eight T2 lesions. Follow-up has ranged from 14 to 117 months (med = 33 months). All IRS Group I patients had documented local control. Five of six IRS Group II and 4/4 Group III patients have had documented local control at last follow-up. IRS Group IV patients had either local control tumor stabilization (n = 1) or evidence of tumor regression (n = 1) at autopsy. Complications following irradiation include wound dehiscence (n = 1), surgery to revise a painful scar (n = 1) extremity length discrepancy (n = 2), and femoral head avascular necrosis (n = 1). At last follow-up, 10 of 14 patients receiving curative intent irradiation remain alive. This review indicates questionable benefit to the addition of irradiation for patients with adequate surgical resection and having “good” tumor characteristics (Grade I, II; IRS Group I, TMN T_1A, T_1B). For lesions that have had incomplete resection or partial response to chemotherapy, there is evidence that irradiation may provide durable local control. The role of irradiation in those patients with IRS Group IV disease is at present confined to palliative roles until the time when more effective chemotherapy will mandate the decision to treat primary disease for curative measures. © 1996 Wiley-Liss, Inc.     

Partial trisomy 9q due to maternal 9q 17q translocation

Partial Trisomy 9q is a unique chromosomal anomaly with a distinctive phenotype. Only 5 cases have been reported in the literature till now. A large family with four affected children was studied in detail and was compared with the five previously reported cases. Determination of this novel balanced translocation in their family had helped us to offer prenatal diagnosis. This presentation is unique as even though partial trisomy 9q has been reported earlier with 9/17 translocations, our family is the first to have a translocation between q arms of chromosomes 9 and 17.     

Children's Oncology Group's 2013 blueprint for research: Bone tumors

In the US, approximately 650 children are diagnosed with osteosarcoma and Ewing sarcoma (ES) each year. Five‐year survival ranges from 65% to 75% for localized disease and <30% for patients with metastases. Recent findings include interval‐compressed five drug chemotherapy improves survival with localized ES. In osteosarcoma a large international trial investigating the addition of ifosfamide/etoposide or interferon to standard therapy has completed accrual. For ES an ongoing trial explores the addition of cyclophosphamide/topotecan to interval‐compressed chemotherapy. Trials planned by the Children's Oncology Group will investigate new target(s) including IGF‐1R and mTOR in ES, and RANKL and GD2 in osteosarcoma. Pediatr Blood Cancer 2013; 60: 1009–1015. © 2012 Wiley Periodicals, Inc.     

Retropharyngeal Synovial Sarcoma in an Infant: Report of a Case and of Its Response to Chemotherapy; Review of the Literature

Synovial sarcoma of the retropharynx is an extremely rare neoplasm. To date, only 10 cases have been reported in patients less than 15 years old. Our 15-month-old patient is, to our knowledge, the youngest ever reported with a retropharyngeal synovial sarcoma in the world literature. In the past, treatment usually consisted of surgery followed by radiotherapy or adjuvant chemotherapy, or both. In the case reported here, combination chemotherapy (ifosfamide, vincristine, and actinomycin D), used as the initial treatment modality, induced a dramatic decrease of the synovial sarcoma.     

Sarcoma with myelophthisic anemia: Report of two cases

Two cases of sarcoma complicated by pathologically confirmed myelophthisic anemia are presented. Although marrow involvement may occur in childhood rhabdomyosarcoma, complete marrow replacement in adult patients with sarcoma has not been previously described.     

A single‐center experience with undifferentiated embryonal sarcoma of the liver

Undifferentiated embryonal sarcoma of the liver (UESL) is a rare aggressive mesenchymal pediatric tumor. Previously, reported outcomes have been very poor. Here, we report a single‐center experience of five patients with UESL treated with upfront gross total resection and adjuvant chemotherapy. We have a median follow‐up of 8 years with a range from 5 to 19 years with 100% event‐free survival.