Nael A, Siaghani P, Wu W W, Nael K, Shane Lisa, Romansky S G
Department of Pathology and Laboratory Medicine, University of California Irvine Medical Center, 101 The City Drive, Orange, CA 92868, USA.
Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA.
Case Rep Pediatr. 2014;2014:792925. doi: 10.1155/2014/792925. Epub 2014 Oct 27.
Pediatric soft tissue sarcomas account for approximately 10% of all pediatric malignancies. Malignant ectomesenchymoma is rare biphasic sarcomas consisting of both mesenchymal and neuroectodermal elements. Approximately 64 cases have been reported in the literature and are believed to arise from pluripotent embryologic migratory neural crest cells. We report a 4-year-old boy who initially presented with a pelvic mass and inguinal lymphadenopathy at 6 months of age. Inguinal lymph node biopsy revealed a distinct biphasic tumor with microscopic and immunophenotypic characteristics diagnostic for both alveolar rhabdomyosarcoma and poorly differentiated neuroblastoma. The patient received national protocol chemotherapy against rhabdomyosarcoma with good response and presented with a cerebellar mass 21 months later. The metastatic tumor revealed sheets of primitive tumor cells and diagnostic areas of rhabdomyosarcoma and neuroblastoma were identified only by immunohistochemistry. Cytogenetic analysis of metastatic tumor demonstrated complex karyotype with multiple chromosomal deletions and duplications. The patient received national protocol chemotherapy against neuroblastoma and adjuvant radiotherapy after surgical resection of the cerebellar tumor with good response. He is currently off from any treatment for 18 months with no evidence of tumor recurrence or metastasis.
小儿软组织肉瘤约占所有小儿恶性肿瘤的10%。恶性外胚层间叶瘤是一种罕见的双相肉瘤，由间充质和神经外胚层成分组成。文献中报道了约64例，据信起源于多能胚胎迁移神经嵴细胞。我们报告一名4岁男孩，他在6个月大时最初表现为盆腔肿块和腹股沟淋巴结病。腹股沟淋巴结活检显示一种独特的双相肿瘤，具有镜下和免疫表型特征，可诊断为肺泡横纹肌肉瘤和低分化神经母细胞瘤。该患者接受了针对横纹肌肉瘤的国家方案化疗，反应良好，21个月后出现小脑肿块。转移性肿瘤显示为成片的原始肿瘤细胞，仅通过免疫组织化学鉴定出横纹肌肉瘤和神经母细胞瘤的诊断区域。转移性肿瘤的细胞遗传学分析显示核型复杂，有多个染色体缺失和重复。该患者在小脑肿瘤手术切除后接受了针对神经母细胞瘤的国家方案化疗和辅助放疗，反应良好。他目前已停止任何治疗18个月，没有肿瘤复发或转移的证据。
