Temsirolimus for metastatic desmoplastic small round cell tumor

Desmoplastic small round cell tumor (DSRCT) is a rare and aggressive neoplasm that mostly occurs in young males. No curative treatment options currently exist for this type of tumor and long‐term survival remains poor. In vitro rapamycin induces apoptotic death of JN‐DSRCT‐1 cells, a possible model for desmoplastic small round cell tumors in which the EWS gene is fused to the WT1 gene. We therefore demonstrate the prolonged activity of temsirolimus, an mTOR‐inhibitor, in a patient with DSRCT. Pediatr Blood Cancer. 2010;55:1431–1432. © 2010 Wiley‐Liss, Inc.     

Intracerebral small round cell tumor: an unusual case with EWS-WT1 translocation

Desmoplastic small round cell tumor (DSRCT) is a rare tumor, seen both in children and young adults with a marked predilection for the peritoneal cavity. Histology showed a small round cell tumor with a fibromyxoïd stroma and immunohistochemistry indicated neural and mesenchymal differentiation, and diagnosis was made by molecular detection of the EWS‐WT1 fusion gene product. DSRCT should be considered in the differential diagnosis of intracranial small round cell tumors. Pediatr Blood Cancer 2008;51:545–548. © 2008 Wiley‐Liss, Inc.     

Sister Mary Joseph's nodule as presenting sign of a desmoplastic small round cell tumor

Umbilical metastases, also named Sister Mary Joseph's nodules, are well documented in the adult population and most often represent an underlying intra-abdominal malignancy, usually a carcinoma of gastrointestinal or gynecologic origin. They are indicative of widespread abdominal disease and are associated with a poor prognosis. An extensive review of the literature reveals only two such presentations in the pediatric population. A 14-year-old male presented with an umbilical mass, which was found to be a metastatic lesion of a desmoplastic small round cell tumor (DSRCT) of the abdomen. The diagnosis of an intra-abdominal malignancy, most commonly a DSRCT, should be considered in the presence of an umbilical mass in a child.     

Response to vinorelbine and low-dose cyclophosphamide chemotherapy in two patients with desmoplastic small round cell tumor

We report two cases of abdominal desmoplastic small round cell tumor (DSRCT) that showed a clinical response to the vinorelbine/low-dose cyclophosphamide combination that has been claimed to be effective for rhabdomyosarcoma. This observation may prompt further investigation into the activity of such a regimen in DSRCT patients with recurrent or refractory disease, with a view to a possible future role as maintenance therapy in controlling minimal residual disease in patients who achieve complete remission with intensive induction multimodality therapy.     

Paratesticular desmoplastic small round cell tumors: A case report and review of the literature

Desmoplastic small round cell tumor (DSCRT) is a rare malignancy most often seen in the abdomen or pelvis of young men. Unfortunately, this disease is usually metastatic at diagnosis and has dismal outcomes. We describe a case of isolated paratesticular DSCRT in a 14‐year‐old male successfully treated with surgical resection, chemotherapy, and adjuvant radiation, and we present a review of the relevant literature. It appears that isolated, paratesticular DSCRTs have a markedly better outcome than the classic abdominal or pelvic location. We hypothesize that this is due to earlier detection and the relative ease of surgical resection.     

Abdominal undifferentiated small round cell tumor with unique translocation (X;19)(q13;q13.3)

We describe a male with a large abdominal mass, most likely originating from the liver, with capsule rupture and tumor dissemination into the abdominal cavity. Adherence of the tumor to the diaphragm and lower right colon also were noted. A comprehensive evaluation of the mass revealed no tumor‐defining histopathologic, immunocytochemical, ultrastructural, cytogenetic, or translocation features. The malignant tumor was found to have a novel translocation (X;19)(q13;13.3), which has not been reported in small round cell tumors of childhood or adults. The final diagnosis rendered was an undifferentiated small round cell tumor of uncertain cell of origin. Pediatr Blood Cancer 2010;54:1041–1044 © 2010 Wiley‐Liss, Inc.     

Recurrent desmoplastic small round cell tumor responding to an mTOR inhibitor containing regimen

Desmoplastic small round cell tumor (DSRCT) is a rare mesenchymal tumor that typically presents with multiple abdominal masses. Initial treatment is multimodal in nature. Patients with relapsed DSRCT have a poor prognosis, and there are no standard therapies. We report our experience with five patients treated with vinorelbine, cyclophosphamide, and temsirolimus (VCT). Median number of VCT courses delivered was 7 (range 4–14 courses), and partial response was observed in all patients. Median time to progression or relapse was 8.5 months (range 7–16 months). Neutropenia and mucositis were most common toxicities (n = 4 each).     

Intraabdominal desmoplastic small round cell tumour

Desmoplastic small round cell tumour (DSRCT) is an extremely rare neoplasm. Adolescent males and young adults are most frequently affected. It is highly malignant, with only 29% of patients surviving up to 3 years. This paper documents two cases, one of which, at 4 years old, is the second youngest case documented. Case 1, a 10-year old boy, presented with a 20-day history of choluria, acholia, asthenia, anorexia, and right abdominal pain. Laboratory values were altered, and imaging showed multiples masses in the liver and retroperitoneum. A minilaparotomy was carried out, and a biopsy showed a stage III DSRCT. He was treated with chemotherapy but died of hepatic failure. Case 2, a 4-year-old boy, presented with a 2-month history of abdominal distension. Several hard masses were palpated in the abdomen, and a right inguinal mass that compressed the right testis was observed. Biopsy of the inguinal tumour showed a DSRCT. After treatment with chemotherapy, two operations were carried out to resect different intraabdominal masses. The patient died with peritoneal carcinomatosis 2 months after the last operation. The first patient died due to the advanced stage of the disease, and the second died after chemotherapy, peripheral blood stem transplantation, and multiple operations. The occurrence of this type of tumour in the paediatric age group as well as its high malignancy is noteworthy. Until more effective forms of treatment are found, we recommend treatment with chemotherapy, surgery, and radiotherapy, with close monitoring of the patient.     

Intra-Abdominal Desmoplastic Small Round Cell Tumor with Extensive Extra-Abdominal Involvement

Intra-abdominal desmoplastic small round cell tumor (DSRCT) is a recently described, rare neoplasm that usually occurs in male adolescents, has a poor prognosis, and displays a typical dinicopathological profile. This aggressive neoplasm exhibits a predominately intra-abdominal serosal pattern, with frequent pelvic extension, less frequent retroperitoneal involvement, and rare pulmonary and mediastinal spread. We report on the autopsy findings of a 9-year-old male who presented with a biopsy-proven DSRCT involving the abdomen, retroperitoneum, and scrotum and additional radiologic studies suggesting vertebral, hepatic, and mediastinal involvement. Postmortem examination performed 10 months after presentation confirmed the initial radiologic findings and demonstrated extensive pleural and pulmonary metastases and, for the first time, direct evidence of bone marrow involvement. This tumor exhibited the typical immunophenotype previously reported for DSRCT, namely multidirectional expression of epithelial, neural, and muscular markers.     

Intra-Abdominal Desmoplastic Small Round Cell Tumor in Children: A Clinicopathologic Study

Desmoplastic small round cell tumor (RCT) is a relatively newly recognized neoplasm. It has a very distinct morphologic and high-grade polyphenotypic expression with a very poor prognosis. It is commonly seen in adolescent boys. We describe two cases of intra-abdominal desmoplastic small RCT in young girls (5 and 11 years of age). In both cases, the exact origin of tumor in the abdomen could not be established. Histopathologic examination of the biopsy specimens showed distinct desmoplastic stroma and coexpression of various epithelial, neural, and muscle markers. These two patients were treated primarily by debulking surgery followed by adjuvant chemotherapy (RCT II protocol). One of the two had a stable disease while the other had a progressive disease while on treatment. Thus our findings support the diverse histogenesis of this tumor and its poor prognosis.     

Imaging of pediatric abdominal soft tissue tumors: A COG Diagnostic Imaging Committee/SPR Oncology Committee White Paper

This paper provides imaging recommendations for pediatric abdominal tumors that arise outside of the solid viscera. These tumors are rare in children and have been categorized in two groups: abdominal wall and peritoneal tumors (desmoid tumor and desmoplastic small round cell tumor) and tumors that arise from the gastrointestinal tract (gastrointestinal stromal tumor and gastrointestinal neuroendocrine tumor). Authors offer consensus recommendations for imaging assessment of these tumors at diagnosis, during follow-up, and when off-therapy.