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Myxofibrosarcoma harboring an MLH1 pathogenic germline variant associated with Muir-Torre syndrome: a case report
Hereditary Cancer in Clinical Practice ( IF 1.7 ) Pub Date : 2021-08-21 , DOI: 10.1186/s13053-021-00192-z
Makoto Nakagawa 1, 2 , Eisuke Kobayashi 1 , Masayoshi Yamada 3, 4 , Tomoko Watanabe 4 , Makoto Hirata 4, 5 , Noriko Tanabe 4 , Mineko Ushiama 5 , Hiromi Sakamoto 5 , Chiaki Sato 1 , Taisuke Mori 6 , Akihiko Yoshida 6 , Teruhiko Yoshida 4, 5 , Kokichi Sugano 4, 7 , Akira Kawai 1
Affiliation  

Muir–Torre syndrome (MTS), which accounts for a small subset (1–3 %) of Lynch syndrome (LS), is an autosomal dominant genetic disorder characterized by sebaceous gland or keratoacanthoma associated with visceral malignancies. Most families with MTS have pathogenic germline variants (PGV) in MSH2. Sarcomas are not common on the LS tumor spectrum, and sarcomas associated with MTS are extremely rare. Here we report a myxofibrosarcoma of the abdominal wall in a 73-year-old man with a sebaceoma that occurred synchronically, leading to a diagnosis of MTS. The loss of MLH1 and PMS2 protein expression was detected in immunohistochemistry, and high-frequency microsatellite instability (MSI-H) was also confirmed. A germline genetic analysis revealed that he harbored the MLH1 PGV. This is the first case of MSI-H myxofibrosarcoma with MTS in an MLH1 PGV carrier. Although rare, we should recognize that sarcomas can be part of the spectrum of LS and MTS.

中文翻译:

含有与 Muir-Torre 综合征相关的 MLH1 致病性种系变异的粘液纤维肉瘤:病例报告

Muir-Torre 综合征 (MTS) 占 Lynch 综合征 (LS) 的一小部分 (1-3%),是一种常染色体显性遗传疾病,其特征是皮脂腺或角化棘皮瘤与内脏恶性肿瘤相关。大多数 MTS 家族在 MSH2 中具有致病性种系变异 (PGV)。肉瘤在 LS 肿瘤谱中并不常见,与 MTS 相关的肉瘤极为罕见。在这里,我们报告了一名 73 岁男性的腹壁粘液纤维肉瘤,同时患有皮脂瘤,导致 MTS 的诊断。在免疫组织化学中检测到 MLH1 和 PMS2 蛋白表达的丧失,并且还证实了高频微卫星不稳定性(MSI-H)。种系遗传分析显示他携带 MLH1 PGV。这是第一例在 MLH1 PGV 携带者中发生 MTS 的 MSI-H 粘液纤维肉瘤病例。虽然很少见,但我们应该认识到肉瘤可能是 LS 和 MTS 的一部分。
更新日期:2021-08-21
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