Microsatellite instability in a pleomorphic rhabdomyosarcoma in a patient with hereditary non-polyposis colorectal cancer
Microsatellite instability in a pleomorphic rhabdomyosarcoma in a patient with hereditary non-polyposis colorectal cancer
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DOI：
10.1046/j.1365-2559.2003.01681.x
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发表时间：
2003-09-01
期刊：
影响因子：
6.4
通讯作者：
Dinjens, WNM
中科院分区：
文献类型：
--
作者：
den Bakker, MA;Seynaeve, C;Dinjens, WNM
目的：描述遗传性非息肉病性结直肠癌 (HNPCC) 患者罕见发生的具有微卫星不稳定性的多形性肉瘤。方法和结果：从先前被证明携带种系 MSH-2 突变的患者大腿中切除软组织肿瘤。采用免疫组织化学和分子方法对肿瘤进行分析。形态学和免疫组织化学结果与多形性横纹肌肉瘤一致。通过分子方法记录了肿瘤中的微卫星不稳定性，此外通过免疫组织化学证实了肿瘤细胞中 MSH-2 表达的丧失。 结论：虽然肉瘤不构成 HNPCC 诊断标准的一部分，但它们可能发生在这种错配修复综合征中，而且很可能是由潜在的遗传缺陷引起的。
Aims: To describe the rare occurrence of a pleomorphic sarcoma with microsatellite instability in a patient with hereditary non-polyposis colorectal cancer (HNPCC).Methods and results: A soft tissue tumour was removed from the upper leg of a patient who had previously been shown to harbour a germ-line MSH-2 mutation. The tumour was analysed with immunohistochemistry and molecular methods. The morphology and immunohistochemical findings were in keeping with a pleomorphic rhabdomyosarcoma. Microsatellite instability was documented in the tumour with molecular methods and in addition loss of MSH-2 expression in the tumour cells was confirmed by immunohistochemistry.Conclusions: Although sarcomas do not form part of the HNPCC diagnostic criteria, they may occur in this mismatch repair syndrome and, moreover, may well be caused by the underlying genetic defect.