The First Case of Lynch Syndrome-Associated Penile Cancer Harboring a Heterozygous PMS2 Frameshift Variant.

IF 1.5 4区医学 Q3 UROLOGY & NEPHROLOGY Urologia Internationalis Pub Date : 2024-09-02 DOI:10.1159/000541252

Zhiqiang Wu, Liang Xiao, Jibin Qiang, Yan Chen, Dujuan Liu, Deyi Chen, Zhihong Chen

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Abstract

Introduction: Penile squamous cell carcinoma (PSCC) is a rare malignancy in men with poor survival in metastatic disease. Lynch syndrome (LS) is a cancer predisposition, autosomal-dominant, inherited disorder that arises from loss of function variants in mismatch repair genes.

Case presentation: Here, we reported a PSCC patient who was suspected with LS caused by a heterozygous PMS2 D526Afs*69 variant. A 57-year-old male with PSCC underwent pelvic lymph node dissection and bilateral groin lymph node dissection due to metastatic disease. He has a family history of colon cancer and brain cancer. Comprehensive genomic sequencing of his tumor specimen identified 19 somatic mutations with a high tumor mutation burden (14.03 mutations per Mb) and a high frequency of microsatellite instability. Additionally, a germline PMS2 D526Afs*69 mutation was identified in the peripheral blood sample. Immunohistochemistry analysis showed complete loss of PMS2 and MLH1 expression in his tumor.

Conclusion: These observations provided evidence suggesting that PSCC could be part of the LS spectrum.

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首例林奇综合征相关阴茎癌患者携带杂合子 PMS2 框移变异。

简介：阴茎鳞状细胞癌（PSCC）是一种罕见的男性恶性肿瘤，转移后存活率很低。林奇综合征（LS）是一种易患癌症的常染色体显性遗传性疾病，由错配修复基因的功能缺失变异引起：在此，我们报告了一名 PSCC 患者，他被怀疑患有由杂合 PMS2 D526Afs*69 变异引起的 LS。一名 57 岁的男性 PSCC 患者因转移性疾病接受了盆腔淋巴结清扫术和双侧腹股沟淋巴结清扫术。他有结肠癌和脑癌家族史。对他的肿瘤标本进行了全面的基因组测序，发现了 19 个体细胞突变，肿瘤突变负荷高（每 Mb 14.03 个突变），微卫星不稳定性（MSI-H）频率高。此外，在外周血样本中还发现了一个种系 PMS2 D526Afs*69 突变。免疫组化分析显示，他的肿瘤细胞中完全丧失了PMS2和MLH1的表达：这些观察结果提供了证据，表明 PSCC 可能是 LS 病谱的一部分。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Urologia Internationalis 医学-泌尿学与肾脏学

CiteScore

3.30

自引率

6.20%

发文量

审稿时长

3-8 weeks

期刊介绍： Concise but fully substantiated international reports of clinically oriented research into science and current management of urogenital disorders form the nucleus of original as well as basic research papers. These are supplemented by up-to-date reviews by international experts on the state-of-the-art of key topics of clinical urological practice. Essential topics receiving regular coverage include the introduction of new techniques and instrumentation as well as the evaluation of new functional tests and diagnostic methods. Special attention is given to advances in surgical techniques and clinical oncology. The regular publication of selected case reports represents the great variation in urological disease and illustrates treatment solutions in singular cases.