Adolescent ; Bone Marrow ; pathology ; Female ; Humans ; Leukemia ; diagnosis ; Neuroblastoma ; diagnosis

A case of abdominal Burkitt's lymphoma diagnosed through aspiration cytology is described. This 9-year-old boy presented with abdominal pain and distention for three months accompanied by fever and night sweat during the last month. An abdominal sonography and CT scan showed hepatosplenomegaly and an intrahepatic mass with celiac lymph node enlargement, ascites, and pleural fluid. A peripheral blood smear showed a few blast cells. Aspiration of the abdominal mass revealed very cellular aspirates consisting of diffusely scattered small monotonous round cells. The cells had little cytoplasm, along with round nuclei that showed clear-cut nuclear membrane, coarse chromatin pattern, and multiple small prominent nucleoli. Differential diagnoses considered were small round cell sarcomas such as malignant lymphoma, neuroblastoma, Ewing's sarcoma, and rhabdomyosarcoma. Of these, malignant lymphoma of the small noncleaved cell type was most consistent with the results of several studies including immunohistochemical staining, peripheral blood smear, and bone marrow biopsy. The cells were positive for leukocyte common antigen (LCA) and showed finely vacuolated basophilic cytoplasm in both the peripheral blood smear and bone marrow biopsy, characteristic of Burkitt's lymphoma cells.
Biopsy, Needle ; Burkitt Lymphoma/*diagnosis/pathology/radionuclide imaging ; Child ; Diagnosis, Differential ; Humans ; Male ; Neuroblastoma/*diagnosis/pathology ; Rhabdomyosarcoma/*diagnosis/pathology ; Sarcoma, Ewing/*diagnosis/pathology ; Tomography, X-Ray Computed

Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Longitudinal Studies ; Male ; Neoplasm Staging ; Neuroblastoma ; diagnosis ; pathology ; therapy ; Treatment Outcome

This study was purposed to analyze the relation of N-myc gene copy number with clinical staging, pathological types and tumor biological factors in children with neuroblastoma (NB), and to investigate the influence of chemotherapy on N-myc gene expression and explore the relationship of N-myc gene copies with prognosis of NB children. The newly diagnosed children with NB from 1 March 2007 to 31 January 2011 were enrolled in this study. The treatment was carried out by BCH-NB-2007 based on Hongkong NB-07 protocol, and the patients were follow up to 31 January 2012. The N-myc gene in NB children was detected by FISH. According to number of N-myc gene copies, the NB children were divided into 3 groups. A group (N-myc gene negative) had less than 2 copies, B group (N-myc gene gains) had 3 to 9 copies, and C group (N-myc amplification) had more than 10 copies. The results showed that the N-myc gene expression in 58 cases of NB was observed. There were 36 males and 22 females. NB children aged from 6.5 to 138 months (median age 47.5 months), all patients were followed up for 11 - 57 months with an average of 31.5 months. INSS stages I-IV were 1, 5, 8 and 44 cases, respectively. Twenty-five cases had primary post mediastinal tumor, thirty-three cases had retroperitoneal and pelvic tumor, three of which also companied with post mediastinal tumor. Thirty-five cases had bone metastasis (60.3%), thirty-two cases had bone marrow metastasis (55%). Of the 54 patients with fully known biologic features, seventeen cases had ganglioneuroblastoma, thirty-seven cases had neuroblastoma (15 displayed differentiated, 7 poorly differentiated or undifferentiated, 15 with pathological changes after chemotherapy), four cases had bone marrow metastasis only detected by bone marrow biopsy. Eleven cases had N-myc gene negative, forty-three had N-myc gains, four had N-myc amplification. The average copy number of N-myc gene copies in 58 cases was 5.96 ± 7.81 in which 28 children were non chemotherapy cases, their average copy number was 4.00 ± 1.88, thirty cases out of 58 cases received preoperation chemotherapy (chemotherapy group), and their average copy number was 7.80 ± 10.46, the difference is significant (P = 0.064). The clinic stage, the location of primary tumor, pathological classification, urine VMA and serum neurogenic specific enolase had no effects on the N-myc gene expression, but the serum LDH level had influence (P < 0.01). Single factor Kaplan-Meier analysis showed that the number of N-myc gene copies in NB patients were closely related with the poor prognosis. The more copies of N-myc gene, the more poor prognosis, the difference is statistically significant (P < 0.05). It is concluded that the number of N-myc gene copies correlates with the rapid growth of NB and its poor prognosis, detecting the N-myc amplification can help to estimate the prognosis and decide the program of treatment. Serum LDH, which correlated with the rapid growth of NB, had effect on the N-myc gene expression and is closely related with the poor prognosis of NB.
Child ; Child, Preschool ; Female ; Gene Amplification ; Genes, myc ; Humans ; Infant ; Male ; Neoplasm Staging ; Neuroblastoma ; diagnosis ; genetics ; pathology ; Prognosis

We present here a very rare case of metastatic relapse in the pancreas of a 4-year-old boy who had been treated for stage 4 neuroblastoma. Computed tomography showed multiple metastatic masses in the pancreas with secondary pancreatitis. To the best of our knowledge, this is the first case report of pancreatic metastasis in a child with neuroblastoma.
Adrenal Gland Neoplasms/diagnosis/*pathology ; Child, Preschool ; Contrast Media ; Diagnosis, Differential ; Diagnostic Imaging ; Humans ; Male ; Neuroblastoma/diagnosis/*secondary ; Pancreatic Neoplasms/diagnosis/*secondary

Neuroblastomas are derived from the neural crest ectoderm, and are the most common solid abdominal masses of infancy. Congenital neuroblastoma, however, is rare. We report a rare case of congenital neuroblastoma with multiple metastases found at autopsy, performed at 2 days after birth. He was born by cesarian section and weighed 2,350 g. His respiration was weak and abdomen was distended. The patient died 2 days after birth. Postmortem examination revealed a relatively well demarcated ovoid mass, in the left adrenal, with necrosis and hemorrhage. Multiple small metastatic tumor nodules in the liver, lung, kidney, brain, rib, thyroid glands, and spleen, were noted. The histopathological pictures confirmed the diagnosis of neuroblastoma of the adrenal with multiple metastasis.
Adrenal Gland Neoplasms/congenital/*diagnosis/pathology ; Autopsy ; Chromogranins/biosynthesis ; Cytoplasm/metabolism ; Human ; Immunohistochemistry ; Infant, Newborn ; Male ; Necrosis ; Neoplasm Metastasis ; Neuroblastoma/congenital/*diagnosis/pathology ; Phosphopyruvate Hydratase/biosynthesis

OBJECTIVETo study clinicopathologic features, immunohistochemical profile, diagnosis and differential diagnosis of childhood central nervous system primitive neuroectodermal tumors (CNS PNETs) with the features of ependymoblastoma and neuroblastoma.

METHODSThe clinical data, morphologic and immunohistochemical features were analyzed in 4 cases of pediatric CNS PNETs with features of ependymoblastoma and neuroblastoma. EnVision method immunohistochemistry was applied.

RESULTSFour patients including three boys and one girl presented at the age from 12 month to 4 years and three tumors located in cerebrum, one in brain stem. All tumors showed typical combined histological patterns of ependymoblastoma and neuroblastoma, demonstrating zones of true rosettes, occasional pseudovascular rosettes, and undifferentiated neuroepithelial cells in a prominent background of mature neuropils. There was focal expression of glial fibrillary acidic protein (GFAP) consistent with glial differentiation and epithelial membrane antigen (EMA) consistent with ependymal differentiation. Necrosis was seen in three cases and calcification was present in one case. Immunohistochemically, the rosettes and undifferentiated neuroepithelial cells were positive for vimentin, partially positive for GFAP and EMA but negative for synaptophysin. The tumor cells were also positive for synaptophysin in neuropils. The Ki-67 label index ranged from 20% to 60%.

CONCLUSIONSCNS PNETs with the features of ependymoblastoma and neuroblastoma is a rare tumor with poor prognosis. The tumor primarily occurs in childhood, especially infant and belongs to the family of embryonal tumors of the CNS. The morphologic, immunohistochemical and genetic features are important in differential diagnosis from other tumors of the CNS.

Antigens, Neoplasm ; metabolism ; Central Nervous System ; pathology ; Child ; Female ; Glial Fibrillary Acidic Protein ; metabolism ; Humans ; Immunohistochemistry ; Infant ; Male ; Mucin-1 ; metabolism ; Neuroblastoma ; diagnosis ; pathology ; Neuroectodermal Tumors, Primitive ; diagnosis ; pathology ; Neuroectodermal Tumors, Primitive, Peripheral ; diagnosis ; pathology ; Synaptophysin ; metabolism ; Vimentin ; metabolism

Carcinoma, Small Cell ; metabolism ; pathology ; Diagnosis, Differential ; Gastrointestinal Stromal Tumors ; metabolism ; pathology ; Humans ; Mastocytosis ; metabolism ; pathology ; Melanoma ; metabolism ; pathology ; Neuroblastoma ; metabolism ; pathology ; Proto-Oncogene Proteins c-kit ; biosynthesis ; Seminoma ; metabolism ; pathology

Adult ; Axilla ; Cell Transformation, Neoplastic ; pathology ; Diagnosis, Differential ; Epithelioid Cells ; metabolism ; pathology ; Fibrosarcoma ; metabolism ; pathology ; Humans ; Male ; Neurilemmoma ; metabolism ; pathology ; surgery ; Neuroblastoma ; metabolism ; pathology ; S100 Proteins ; metabolism ; Soft Tissue Neoplasms ; metabolism ; pathology ; surgery ; Vimentin ; metabolism

Adult ; Diagnosis, Differential ; Follow-Up Studies ; Humans ; Infant ; Keratins ; metabolism ; Male ; Mandibular Neoplasms ; metabolism ; pathology ; surgery ; Melanoma ; metabolism ; pathology ; Neuroblastoma ; metabolism ; pathology ; Neuroectodermal Tumor, Melanotic ; metabolism ; pathology ; surgery ; Rhabdomyosarcoma, Embryonal ; metabolism ; pathology ; Synaptophysin ; metabolism