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林奇综合征:家族性癌症的一个不寻常病例被发现。

Lynch syndrome: An unusal case of familial cancer unearthed.

机构信息

Consultant Pathologist, Kolkata Reference Lab, SRL Ltd, Kolkata, West Bengal, India.

Basic Research Scientist, Department of Clinical Genetics and Genomics, Strand Life Science Private Limited, Bangaluru, Karnataka, India.

出版信息

Indian J Pathol Microbiol. 2022 Apr-Jun;65(2):465-467. doi: 10.4103/IJPM.IJPM_809_19.

DOI:10.4103/IJPM.IJPM_809_19
PMID:35435397
Abstract

Lynch syndrome or hereditary nonpolyposis colorectal cancer (HNPCC) is a type of inherited cancer syndrome with a genetic predisposition to different types of cancer. There is an increased predisposition to cancers in the endometrium, colon, stomach, ovary, uterus, skin, kidney, and brain in patients of Lynch syndrome. We are reporting a 48-year-old male who presented with a pea-sized growth in his left arm which was found to be sebaceoma on histopathology. On further detailed history, examination, and genetic study, it was proved to be a familial case of Lynch syndrome. The case is being reported to stress the importance of knowledge about clinical manifestation, associated neoplasms, and molecular genetic profile of Lynch syndrome which will enable physicians and pathologists to provide highly targeted surveillance and management for patients with high cancer risk.

摘要

林奇综合征或遗传性非息肉病性结直肠癌(HNPCC)是一种具有遗传倾向的癌症综合征,易患多种癌症。林奇综合征患者的子宫内膜癌、结肠癌、胃癌、卵巢癌、子宫癌、皮肤癌、肾癌和脑癌的易感性增加。我们报告了一名 48 岁男性,他的左臂出现豌豆大小的生长物,组织病理学检查发现为皮脂瘤。进一步详细的病史、检查和基因研究证实这是一个家族性林奇综合征病例。报告该病例是为了强调了解林奇综合征的临床表现、相关肿瘤和分子遗传特征的重要性,这将使医生和病理学家能够为高癌症风险患者提供高度针对性的监测和管理。

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