Mariño-Enríquez Adrián, Li Peining, Samuelson Joan, Rossi Michael R, Reyes-Múgica Miguel
Departamento de Anatomía Patológica, Hospital Universitario La Paz, 28046 Madrid, Spain.
Hum Pathol. 2008 Dec;39(12):1844-8. doi: 10.1016/j.humpath.2008.04.013. Epub 2008 Jul 25.
Congenital mesenchymal tumors are diagnostically challenging as they are rare and may feature overlapping patterns between several benign, low-grade, and tumors of intermediate malignancy, including myofibromatosis, myofibroma/hemangiopericytoma, congenital fibrosarcoma, and inflammatory myofibroblastic tumor. Their immunophenotype is either silent or minimally expressive, and their ultrastructural features are generically consistent with "fibroblastic/myofibroblastic" differentiation. Cytogenetic analysis allows refined diagnoses, improved classifications, and bettering of our therapeutic armamentarium. However, genotype/phenotype correlations continue rendering novel findings that must be examined for their potential value in diagnosis and treatment. We describe a retroperitoneal congenital fibrosarcoma with an unusually bland histopathology and novel 3-way t(12;15;19) translocation involving chromosome bands 12p13.2, 15q25.3, and 19p13.1, associated with trisomies 8, 11, and 20. Fluorescence in situ hybridization showed one fusion signal in the normal chromosome 12p13.2 and break-apart 3'ETV6 and 5'ETV6 signals in the rearranged 12p13.2 and 15q25.3, respectively. The importance of molecular diagnosis and genotype-phenotype correlations is emphasized.
先天性间充质肿瘤在诊断上具有挑战性，因为它们很罕见，并且可能呈现出几种良性、低级别和中间恶性肿瘤之间重叠的模式，包括肌纤维瘤病、肌纤维瘤/血管外皮细胞瘤、先天性纤维肉瘤和炎性肌纤维母细胞瘤。它们的免疫表型要么不表达，要么表达微弱，其超微结构特征一般与“成纤维细胞/肌成纤维细胞”分化一致。细胞遗传学分析有助于进行精确诊断、改进分类，并完善我们的治疗手段。然而，基因型/表型相关性不断带来新的发现，必须对其在诊断和治疗中的潜在价值进行研究。我们描述了一例腹膜后先天性纤维肉瘤，其组织病理学表现异常温和，并存在涉及染色体带12p13.2、15q25.3和19p13.1的罕见的三体8、11和20相关的3向t(12;15;19)易位。荧光原位杂交显示正常染色体12p13.2上有一个融合信号，而在重排的12p13.2和15q25.3中分别有3'ETV6和5'ETV6信号的断裂分离。强调了分子诊断和基因型-表型相关性的重要性。
