Disialoganglioside GD2 Expression in Pediatric Rhabdomyosarcoma: A Case Series and Review of the Literature.

Rhabdomyosarcoma (RMS) is the most common pediatric soft tissue sarcoma. Despite aggressive therapy, patients with metastatic or relapsed disease experience dismal outcomes and novel therapies are urgently needed. In this study, we evaluated expression of disialoganglioside (GD2), a cell surface antigen with therapeutic implication, in 16 RMS patient samples.

Congenital capillary proliferation of the kidney: a distinctive renal vascular lesion of childhood.

Renal vascular lesions (RVL) are rare, and their morphological spectrum remains largely unknown, particularly in children. In this study, we characterize the clinicopathological features of RVL in a cohort of 12 children. Seven lesions were classified as previously recognized entities: vascular malformations (4), papillary endothelial hyperplasia (2), and pyogenic granuloma (lobular capillary hemangioma; 1).

Myosin Vb uncoupling from RAB8A and RAB11A elicits microvillus inclusion disease.

Microvillus inclusion disease (MVID) is a severe form of congenital diarrhea that arises from inactivating mutations in the gene encoding myosin Vb (MYO5B). We have examined the association of mutations in MYO5B and disruption of microvillar assembly and polarity in enterocytes. Stable MYO5B knockdown (MYO5B-KD) in CaCo2-BBE cells elicited loss of microvilli, alterations in junctional claudins, and disruption of apical and basolateral trafficking; however, no microvillus inclusions were observed in MYO5B-KD cells.

Ewing's sarcoma/primitive neuroectodermal tumor of the proximal humeral epiphysis.

Ewing's sarcoma/primitive neuroectodermal tumor (ES/PNET) of bone is a rare childhood tumor most commonly located in the metadiaphysis. In skeletally immature patients, lesions of the epiphysis are rarely malignant, with the most common diagnosis being chondroblastoma. This article presents a case of ES/PNET of the proximal humeral epiphysis in a 12-year-old boy.

Thoraco-abdominal enteric duplication cyst in association with neurenteric cyst, axial skeletal anomalies, and malrotation.

We report a case of a 2-year old boy with cervicothoracic deformity with vertebral rib anomalies, neurenteric cyst, separate thoracoabominal enteric duplication cyst, concurrent intestinal malrotation, and dextroposition of the heart. This combination of abnormalities is very rare. When these lesions are suspected, the patient must be investigated carefully.

Randomized controlled trial of interval-compressed chemotherapy for the treatment of localized Ewing sarcoma: a report from the Children's Oncology Group.

Purpose: Chemotherapy with alternating vincristine-doxorubicin-cyclophosphamide and ifosfamide-etoposide cycles and primary tumor treatment with surgery and/or radiation therapy constitute the usual approach to localized Ewing sarcoma in North America. We tested whether chemotherapy intensification through interval compression could improve outcome.

Patients And Methods: This was a prospective, randomized controlled trial for patients younger than 50 years old with newly diagnosed localized extradural Ewing sarcoma.

Ewing sarcoma/peripheral primitive neuroectodermal tumor and related tumors.

Ewing sarcoma/peripheral primitive neuroectodermal tumor (EWS/pPNET) and other tumors with EWS gene rearrangements encompass a malignant and intermediate neoplasm with a broad anatomic distribution and a wide age range but a predilection for soft tissue in children, adolescents, and young adults. The overlapping histologic, immunohistochemical and cytogenetic and molecular genetic features create diagnostic challenges despite significant clinical and prognostic differences. Ewing sarcoma is the 3rd most common sarcoma in children and adolescents, and desmoplastic small round cell tumor is a rare neoplasm that occurs more often in older children, adolescents, and young adults.

Investigation of the insulin-like growth factor-1 signaling pathway in localized Ewing sarcoma: a report from the Children's Oncology Group.

Background: The insulin-like growth factor-1 (IGF-1) signaling pathway plays an important role in the pathology of Ewing sarcoma (ES). Retrospective studies have suggested that levels of IGF-1 and IGF binding protein 3 (IGFBP-3) are correlated with the outcome of patients with ES.

Methods: The IGF-1 signaling pathway was investigated prospectively in 269 patients who had localized, previously untreated ES.

The value of positron emission tomography and proliferation index in predicting progression in low-grade astrocytomas of childhood.

Astrocytomas are the most common brain tumors of childhood and adolescence. Low-grade astrocytomas (LGAs), in general, have favorable prognosis, but recurrence or progressive disease with dissemination, malignant transformation, and death occur in some cases. Current clinical and pathological measures including age, sex, imaging characteristics, location and size of the tumor, histopathology, and degree of resection cannot predict with certainty which tumors will demonstrate aggressive behavior.

Treatment of metastatic Ewing sarcoma/primitive neuroectodermal tumor of bone: evaluation of increasing the dose intensity of chemotherapy--a report from the Children's Oncology Group.

Background: The outcome for patients with Ewing sarcoma family of tumors (ESFTs) of bone with metastases at diagnosis remains poor despite new approaches to treatment. We evaluated whether a dose-intensity chemotherapy regimen improved survival for patients with ESFTs of bone with metastases at diagnosis.

Methods: We entered 60 patients with metastatic ESFTs of bone onto a single arm trial of a new intensive therapy.

Therapy-related myelodysplasia and acute myeloid leukemia after Ewing sarcoma and primitive neuroectodermal tumor of bone: A report from the Children's Oncology Group.

This study describes the magnitude of risk of therapy-related myelodysplasia and acute myeloid leukemia (t-MDS/AML) in 578 individuals diagnosed with Ewing sarcoma and enrolled on Children's Oncology Group therapeutic protocol, INT-0091. Between 1988 and 1992, patients with or without metastatic disease were randomized to receive doxorubicin, vincristine, cyclophosphamide, and dactinomycin (regimen A) or these 4 drugs alternating with etoposide and ifosfamide (regimen B). Between 1992 and 1994, patients with metastatic disease were nonrandomly assigned to receive high-intensity therapy (regimen C: regimen B therapy with higher doses of doxorubicin, cyclophosphamide, and ifosfamide).

Intensive therapy with growth factor support for patients with Ewing tumor metastatic at diagnosis: Pediatric Oncology Group/Children's Cancer Group Phase II Study 9457--a report from the Children's Oncology Group.

Purpose: Prognosis is poor for Ewing sarcoma patients with metastasis at diagnosis. We intensified a five-drug therapy (ifosfamide, etoposide alternated with vincristine, doxorubicin, and cyclophosphamide) using filgrastim but not stem-cell support. We studied topotecan alone and combined with cyclophosphamide in therapeutic windows before the five-drug therapy.

Treatment of metastatic Ewing's sarcoma or primitive neuroectodermal tumor of bone: evaluation of combination ifosfamide and etoposide--a Children's Cancer Group and Pediatric Oncology Group study.

Purpose: One hundred twenty patients with metastatic Ewing's sarcoma or primitive neuroectodermal tumor (PNET) of bone were entered onto a randomized trial evaluating whether the addition of ifosfamide and etoposide to vincristine, doxorubicin, cyclophosphamide, and dactinomycin improved outcomes.

Methods: Thirty-two patients had metastases to lungs only, 12 patients had metastases to bone marrow or bones only, 64 patients had metastases in multiple sites, and five patients had metastases in other sites; seven patients could not be assessed precisely. Treatment comprised 9 weeks of chemotherapy before local control and 42 weeks of chemotherapy; thereafter, regimen A consisted of vincristine 2 mg/m(2), cyclophosphamide 1,200 mg/m(2), and either doxorubicin 75 mg/m(2) or dactinomycin 1.

Ewing sarcoma/primitive neuroectodermal tumor of the chest wall: impact of initial versus delayed resection on tumor margins, survival, and use of radiation therapy.

Objective: To establish outcome and optimal timing of local control for patients with nonmetastatic Ewing sarcoma/primitive neuroectodermal tumor (ES/PNET) of the chest wall.

Methods: Patients < or =30 years of age with ES/PNET of the chest wall were entered in 2 consecutive protocols. Therapy included multiagent chemotherapy; local control was achieved by resection, radiotherapy, or both.

Neuroblastoma mimicking rhabdoid tumor of the kidney.

Rhabdoid tumor of the kidney (RTK) has mimicked other renal tumors histologically, but there has been only one previous report of neuroblastoma mimicking RTK. The authors present the case of a 17-month-old boy who presented with a large left renal mass that was diagnosed as RTK. At the completion of therapy he was found to have residual masses.

Addition of ifosfamide and etoposide to standard chemotherapy for Ewing's sarcoma and primitive neuroectodermal tumor of bone.

Background: Ewing's sarcoma and primitive neuroectodermal tumor of bone are closely related, highly malignant tumors of children, adolescents, and young adults. A new drug combination, ifosfamide and etoposide, was highly effective in patients with Ewing's sarcoma or primitive neuroectodermal tumor of bone who had a relapse after standard therapy. We designed a study to test whether the addition of these drugs to a standard regimen would improve the survival of patients with newly diagnosed disease.

Y Chromosomal Sequences Identified in Gonadal Tissue of Two 45,X Patients with Turner Syndrome.

We examined excised gonadal tissue obtained from two 45,X patients for evidence of Y chromosomal material. Both patients had features atypical for individuals with Turner syndrome, a large dysgerminoma in patient 1 and clitoromegaly in patient 2. Southern blot analysis of polymerase chain reaction (PCR)-amplified DNA was performed for five Y chromosome-specific probes (SRY, ZFY.