病例报告：在中国一个家族中发现的与c.1024_1026相关的林奇综合征新亚型。
Case Report: A New Subtype of Lynch Syndrome Associated With c.1024_1026 Identified in a Chinese Family.
作者信息
Li Lu, Zhao Zhe, Dong Lin, Jia Jia, Su Ke, Bai Hua, Wang Jie
机构信息
Health Service Department of the Guard Bureau of the Joint Staff Department, Beijing, China.
Department of Medical Oncology, Beijing Hospital, National Center of Gerontology, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing, China.
出版信息
Front Med (Lausanne). 2022 Jan 28;9:811368. doi: 10.3389/fmed.2022.811368. eCollection 2022.
BACKGROUND
Lynch syndrome is an autosomal dominant disorder associated with a high incidence of various cancer types. Multiple variants of mismatch repair genes have been reported for Lynch syndrome. However, the diagnosis in patients with atypical cancer types remains challenging. Specifically, little is known about the genetic background of Lynch syndrome-related renal carcinoma. We present a case wherein a renal carcinoma patient with multiple primary skin tumors harbored a variant that has not been previously shown to be associated with Lynch syndrome.
CASE PRESENTATION
The proband was a 60-year-old Chinese man with a history of Lynch syndrome-related renal carcinoma and recurrent primary skin tumors. Immunohistochemistry revealed loss of MSH2 and MSH6. Sequencing of mismatch repair genes revealed a previously unknown germline mutation (c.1024_1026), which results in an amino acid deletion (p.V342). This variant was co-segregated among the carcinoma-affected family members. After six cycles of immunotherapy, a marked regression of the skin tumors was observed.
CONCLUSIONS
We clarify the pathogenic significance of this newly described mutation and suggest immunotherapy for patients with this subtype of Lynch syndrome.
背景
林奇综合征是一种常染色体显性疾病，与多种癌症的高发病率相关。林奇综合征已报道了错配修复基因的多种变异。然而，非典型癌症类型患者的诊断仍然具有挑战性。具体而言，关于林奇综合征相关肾癌的遗传背景知之甚少。我们报告了一例肾癌患者，该患者有多个原发性皮肤肿瘤，其携带一种先前未显示与林奇综合征相关的变异。
病例介绍
先证者是一名60岁的中国男性，有林奇综合征相关肾癌和复发性原发性皮肤肿瘤病史。免疫组化显示MSH2和MSH6缺失。错配修复基因测序发现一个先前未知的种系突变（c.1024_1026），该突变导致一个氨基酸缺失（p.V342）。这种变异在受癌症影响的家庭成员中共同分离。经过六个周期的免疫治疗后，观察到皮肤肿瘤明显消退。
结论
我们阐明了这种新描述突变的致病意义，并建议对这种林奇综合征亚型患者进行免疫治疗。
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