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Multiple primary cancers (renal papillary, lymphoma and teratoma) and hepatic cysts in association with a pathogenic germline mutation in the MET gene.
Familial Cancer ( IF 1.8 ) Pub Date : 2020-07-20 , DOI: 10.1007/s10689-020-00196-z
Julian Adlard 1
Affiliation  

Activating germline mutations of the MET gene are associated with hereditary papillary renal cancer. This a very rare autosomal dominant condition, which is usually considered not to display a phenotype of multiple types of malignancy. However, this report describes the case of a man who has been affected with testicular teratoma, diffuse large B-cell lymphoma and multiple hepatic cysts, as well as multiple papillary renal cancers. There is good supporting evidence for roles of over-expression/activity of the HGF/MET ligand-receptor in development of these tumours, raising the possibility of other increased cancer risks associated with activating germline MET gene mutations.



中文翻译:

多原发癌(肾乳头状癌、淋巴瘤和畸胎瘤)和肝囊肿与 MET 基因的致病性种系突变相关。

激活MET基因的种系突变与遗传性乳头状肾癌有关。这是一种非常罕见的常染色体显性遗传病,通常被认为不表现出多种恶性肿瘤的表型。然而,该报告描述了一名患有睾丸畸胎瘤、弥漫性大 B 细胞淋巴瘤和多发性肝囊肿以及多发性乳头状肾癌的男性病例。有很好的支持证据表明 HGF/MET 配体受体的过度表达/活性在这些肿瘤的发展中的作用,增加了与激活生殖系MET基因突变相关的其他癌症风险增加的可能性。

更新日期:2020-07-20
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