Myxofibrosarcoma harboring an MLH1 pathogenic germline variant associated with Muir-Torre syndrome: a case report.
Myxofibrosarcoma harboring an MLH1 pathogenic germline variant associated with Muir-Torre syndrome: a case report.
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DOI：
10.1186/s13053-021-00192-z
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发表时间：
2021-08-21
影响因子：
1.7
通讯作者：
Kawai A
中科院分区：
文献类型：
--
作者：
Nakagawa M;Kobayashi E;Yamada M;Watanabe T;Hirata M;Tanabe N;Ushiama M;Sakamoto H;Sato C;Mori T;Yoshida A;Yoshida T;Sugano K;Kawai A
Muir-Torre综合征（MTS）是一种常染色体显性遗传病，以皮脂腺或角化棘皮瘤为特征，伴内脏恶性肿瘤，占Lynch综合征的1- 3%。大多数MTS家族在MSH 2中存在致病性生殖系变异（PGV）。肉瘤在LS肿瘤谱中并不常见，与MTS相关的肉瘤非常罕见。我们在此报告一位73岁男性腹壁黏液纤维肉瘤合并皮脂瘤的病例，此病例同时发生，导致MTS的诊断。免疫组化检测到MLH 1和PMS 2蛋白表达缺失，并证实了高频微卫星不稳定性（MSI-H）。生殖系遗传分析显示，他携带MLH 1 PGV。这是第一例MSI-H粘液纤维肉瘤伴MTS的MLH 1 PGV携带者。虽然罕见，但我们应该认识到肉瘤可以是LS和MTS光谱的一部分。在线版本包含补充材料，可通过10.1186/s13053-021-00192-z获得。
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. The online version contains supplementary material available at 10.1186/s13053-021-00192-z.
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DOI：
10.1093/jnci/djm291
发表时间：
2008-02-20
期刊：
JOURNAL OF THE NATIONAL CANCER INSTITUTE
影响因子：
--
作者：
South, Christopher D.;Hampel, Heather;de la Chapelle, Albert
通讯作者：
de la Chapelle, Albert
影响因子：
24.5
作者：
Møller P;Seppälä T;Bernstein I;Holinski-Feder E;Sala P;Evans DG;Lindblom A;Macrae F;Blanco I;Sijmons R;Jeffries J;Vasen H;Burn J;Nakken S;Hovig E;Rødland EA;Tharmaratnam K;de Vos Tot Nederveen Cappel WH;Hill J;Wijnen J;Jenkins M;Green K;Lalloo F;Sunde L;Mints M;Bertario L;Pineda M;Navarro M;Morak M;Renkonen-Sinisalo L;Frayling IM;Plazzer JP;Pylvanainen K;Genuardi M;Mecklin JP;Möslein G;Sampson JR;Capella G;Mallorca Group (http://mallorca-group.org)
通讯作者：
Mallorca Group (http://mallorca-group.org)
影响因子：
8.8
作者：
Dominguez-Valentin, Mev;Sampson, Julian R.;Moller, Pal
通讯作者：
Moller, Pal
影响因子：
4
作者：
Tlemsani, Camille;Leroy, Karen;Laurent-Puig, Pierre
通讯作者：
Laurent-Puig, Pierre
影响因子：
3.5
作者：
Yozu, Masato;Symmans, Pennie;Wong, K. P.
通讯作者：
Wong, K. P.