Constitutional MMR deficiency: Genetic bases and clinical implications 机翻标题: 暂无翻译,请尝试点击翻译按钮。

来源
Bulletin du Cancer: Journal de l'Association Francaise pour l'Etude du Cancer
年/卷/期
2019 / 106 / 2
页码
162-172
ISSN号
0007-4551
作者单位
Paris Sci Lettres Res Univ, Inst Curie, Dept Genet, F-75005 Paris, France;Paris Sci Lettres Res Univ, Inst Curie, Dept Genet, F-75005 Paris, France;Univ Paris 05, Inst Curie, Ctr Oncol SIREDO Soins Innovat Rech Cancerol Enfa, F-75005 Paris, France;Univ Paris 05, Inst Curie, Ctr Oncol SIREDO Soins Innovat Rech Cancerol Enfa, F-75005 Paris, France;Paris Sci Lettres Res Univ, Inst Curie, Dept Genet, F-75005 Paris, France;Paris Sci Lettres Res Univ, Inst Curie, Dept Genet, F-75005 Paris, France;Paris Sci Lettres Res Univ, Inst Curie, Dept Genet, F-75005 Paris, France;
作者
Buecher, Bruno;Le Mentec, Marine;Doz, Francois;Bourdeaut, Franck;Gauthier-Villars, Marion;Stoppa-Lyonnet, Dominique;Colas, Chrystelle;
摘要
Inherited mono-allelic mutation in one of the 4 major MMR genes results in Lynch syndrome which predisposes, in adulthood, mainly to colorectal and endometrial tumors characterized by microsatellite instability (MSI phenotype). Individuals with bi-allelic mutations of one of these genes developed early and multiple malignancies, most often in childhood. This recessively inherited condition is named CMMRD for Constitutional Mismatch Repair Deficiency. The spectrum of tumors is distinct from Lynch syndrome. Malignant brain tumors are at least as frequent as gastrointestinal tumors and in more than a third of cases haematological malignancies were also reported. Patients also displayed clinical features similar of neurofibromatosis type 1, especially cafe au lait spots. The most commonly involved genes are PMS2 and MSH6 while bi-allelic MLH1 and MSH2 mutations are rare. The digestive tumors of these patients show MSI whereas the brain tumors can be "microsatellite stable''. Because of variable clinical presentation and phenotypical overlaps with other cancer syndromes, CMMRD syndrome is frequently unrecognized by clinicians and its incidence is almost certainly underestimated. A better knowledge of clinical criteria and diagnosis methods should improve the identification of these patients at least at the time when they develop their first tumor or even before. This will allow adjusting treatment modalities and offering surveillance strategies of other tumor risks, not only for patients themselves but also for their relatives.
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关键词/主题词
bi-allelic MMR mutations;Constitutional Mismatch;Repair Deficiency;Cerebral tumors;Lymphoma;Colo-rectal cancer;Neurofibromatosis type 1;
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