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黑色素瘤肿瘤综合征的新见解

New Insights into Melanoma Tumor Syndromes.

作者信息

Rashid Sarem, Gupta Sameer, McCormick Shelley R, Tsao Hensin

机构信息

Wellman Center for Photomedicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.

Boston University School of Medicine, Boston, Massachusetts, USA.

出版信息

JID Innov. 2022 Sep 2;2(6):100152. doi: 10.1016/j.xjidi.2022.100152. eCollection 2022 Nov.

DOI:10.1016/j.xjidi.2022.100152
PMID:36387771
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9641259/
Abstract

Melanoma tumor syndromes (MTS) represent an important minority of familial melanoma cases. In these patients, the accumulation of sequence alterations in essential genes may prelude the risk of internal malignancies, in addition to melanoma. Although several host and environmental factors have been implicated in familial melanoma, the exact mechanisms of cancer predisposition-particularly in the context of mixed cancer syndromes-still remain unclear. In this paper, we review new insights into MTS and elucidate recent efforts that guide individualized prognostication and treatment for these diseases in the past quarter century.

摘要

黑色素瘤肿瘤综合征(MTS)占家族性黑色素瘤病例的重要一部分。在这些患者中,除黑色素瘤外,关键基因序列改变的积累可能预示着发生内部恶性肿瘤的风险。尽管一些宿主和环境因素与家族性黑色素瘤有关,但癌症易感性的确切机制——尤其是在混合癌症综合征的背景下——仍不清楚。在本文中,我们回顾了对MTS的新见解,并阐明了过去四分之一个世纪中指导这些疾病个体化预后和治疗的最新努力。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63d3/9641259/ec86deb91541/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63d3/9641259/2e651cdc74fa/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63d3/9641259/ec86deb91541/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63d3/9641259/2e651cdc74fa/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63d3/9641259/ec86deb91541/gr2.jpg

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Pancreas. 2021 Sep 1;50(8):1123-1130. doi: 10.1097/MPA.0000000000001888.
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A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.一种使用自然语言处理的数据驱动架构,以提高表型分析效率并加速罕见病的基因诊断。
HGG Adv. 2021 Jul;2(3). doi: 10.1016/j.xhgg.2021.100035. Epub 2021 May 11.
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Hamartoma Tumor Syndrome: Skin Manifestations and Insights Into Their Molecular Pathogenesis.
Theranostics. 2024 Nov 4;14(19):7470-7487. doi: 10.7150/thno.97475. eCollection 2024.
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Update on Cancer Predisposition Syndromes and Surveillance Guidelines for Childhood Brain Tumors.癌症易感性综合征的最新进展及儿童脑肿瘤监测指南。
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错构瘤综合征:皮肤表现及其分子发病机制的见解
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Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia.胚系 ATM 变异易患黑色素瘤:GenoMEL 和 MelaNostrum 联盟的联合分析。
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Shaping human telomeres: from shelterin and CST complexes to telomeric chromatin organization.塑造人类端粒:从端粒保护蛋白和 CST 复合物到端粒染色质结构。
Nat Rev Mol Cell Biol. 2021 Apr;22(4):283-298. doi: 10.1038/s41580-021-00328-y. Epub 2021 Feb 9.
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