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骨髓衰竭综合征和罕见DNA修复障碍中的非黑色素瘤皮肤癌及其他皮肤表现

Non-Melanoma Skin Cancers and Other Cutaneous Manifestations in Bone Marrow Failure Syndromes and Rare DNA Repair Disorders.

作者信息

Vagher Jennie, Gammon Amanda, Kohlmann Wendy, Jeter Joanne

机构信息

Family Cancer Assessment Clinic, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, United States.

出版信息

Front Oncol. 2022 Mar 10;12:837059. doi: 10.3389/fonc.2022.837059. eCollection 2022.

Abstract

Although most non-melanoma skin cancers are felt to be sporadic in origin, these tumors do play a role in several cancer predisposition syndromes. The manifestations of skin cancers in these hereditary populations can include diagnosis at extremely early ages and/or multiple primary cancers, as well as tumors at less common sites. Awareness of baseline skin cancer risks for these individuals is important, particularly in the setting of treatments that may compromise the immune system and further increase risk of cutaneous malignancies. Additionally, diagnosis of these disorders and management of non-cutaneous manifestations of these diseases have profound implications for both the patient and their family. This review highlights the current literature on the diagnosis, features, and non-melanoma skin cancer risks associated with lesser-known cancer predisposition syndromes, including bone marrow failure disorders, genomic instability disorders, and base excision repair disorders.

摘要

尽管大多数非黑色素瘤皮肤癌被认为起源于散发性,但这些肿瘤在几种癌症易感综合征中确实发挥着作用。这些遗传性人群中皮肤癌的表现可能包括在极早期被诊断出和/或患有多个原发性癌症,以及在不太常见部位出现肿瘤。了解这些个体的皮肤癌基线风险很重要,特别是在可能损害免疫系统并进一步增加皮肤恶性肿瘤风险的治疗背景下。此外,这些疾病的诊断以及这些疾病非皮肤表现的管理对患者及其家人都有着深远的影响。本综述重点介绍了当前关于与鲜为人知的癌症易感综合征相关的诊断、特征和非黑色素瘤皮肤癌风险的文献,这些综合征包括骨髓衰竭疾病、基因组不稳定疾病和碱基切除修复疾病。

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