Goldsby R E, Bruggers C S, Brothman A R, Sorensen P H, Beckwith J B, Pysher T J
Department of Pediatrics, University of Utah/Primary Childrens Medical Center, Salt Lake City 84113, USA.
J Pediatr Hematol Oncol. 1998 Mar-Apr;20(2):160-4. doi: 10.1097/00043426-199803000-00015.
Malignant ectomesenchymomas are tumors that exhibit both mesenchymal and neuroectodermal elements (1). We report a case thought to represent a malignant ectomesenchymoma arising in the kidney with cytogenetic abnormalities that may provide insight into the biologic basis for this unusual tumor.
We discuss the clinical features, histopathologic findings, cytogenetics, treatment, and outcome of a child with a malignant ectomesenchymoma arising in the kidney.
An asymptomatic 16-month-old boy had a large abdominal mass. The resected tumor contained sheets of spindled cells that expressed mesenchymal markers and cartilaginous differentiation, interspersed with clusters of ganglion cells that expressed neural markers. No blastemal or epithelial elements were demonstrated. Cytogenetic analysis of the tumor revealed a hyperdiploid count with multiple numerical and structural abnormalities, including a translocation between chromosomes 12 and 15. In addition to the surgical resection, the patient was successfully treated with adjuvant chemotherapy and local radiation therapy.
This is the first report of which we are aware of an ectomesenchymoma arising within the kidney. A subset of malignant ectomesenchymomas may be related to the Ewing's family of tumors (EFTs) (2), but this case did not exhibit cytogenetic features consistent with EFT. Thus, the malignant ectomesenchymoma phenotype probably represents a heterogeneous group of tumors with different genotypes and origins. Cytogenetic analysis may be instrumental in determining the appropriate therapeutic approach when faced with such a neoplasm. The outcomes of 12 other children with ectomesenchymoma are reviewed.
恶性外胚层间叶瘤是一种同时具有间叶组织和神经外胚层成分的肿瘤（1）。我们报告了一例被认为是起源于肾脏的恶性外胚层间叶瘤病例，其细胞遗传学异常可能为这种罕见肿瘤的生物学基础提供见解。
我们讨论了一名患有起源于肾脏的恶性外胚层间叶瘤儿童的临床特征、组织病理学发现、细胞遗传学、治疗及预后。
一名16个月大无症状男孩腹部有一巨大肿块。切除的肿瘤包含成片的梭形细胞，这些细胞表达间叶组织标志物并具有软骨分化，其间散在分布着表达神经标志物的神经节细胞簇。未发现胚基或上皮成分。对肿瘤进行的细胞遗传学分析显示为超二倍体计数，伴有多个数量和结构异常，包括12号和15号染色体之间的易位。除手术切除外，患者还成功接受了辅助化疗和局部放疗。
这是我们所知的首例起源于肾脏的外胚层间叶瘤报告。一部分恶性外胚层间叶瘤可能与尤因家族肿瘤（EFTs）相关（2），但该病例未表现出与EFT一致的细胞遗传学特征。因此，恶性外胚层间叶瘤表型可能代表了一组具有不同基因型和起源的异质性肿瘤。细胞遗传学分析在面对此类肿瘤时可能有助于确定合适的治疗方法。我们还回顾了其他12例患有外胚层间叶瘤儿童的治疗结果。
