睾丸鞘膜恶性间皮瘤中PARP1、RNF213、PAX8、KMT2C、MTRR基因突变分析

Analysis of mutations of PARP1, RNF213, PAX8, KMT2C, MTRR in malignant mesothelioma of testicular tunica vaginalis testis.

作者信息

Kowalik Artur, Wincewicz Andrzej, Zięba Sebastian, Baran Wojciech, Kopczyński Janusz, Koda Mariusz, Sulkowski Stanisław, Goźdź Stanisław

机构信息

Department of Molecular Diagnostics, Holy Cross Oncology Centre, Kielce, Poland.

Division of Medical Biology, Institute of Biology Jan Kochanowski University, Kielce, Poland.

出版信息

Pol J Pathol. 2020;71(1):69-74. doi: 10.5114/pjp.2020.95418.

DOI:10.5114/pjp.2020.95418

PMID:32429658

Abstract

Molecular next gene sequencing was used to evaluate mutations in 409 common mutated cancer-related genes in malignant mesothelioma of tunica vaginalis testis (MMTVT) of 81-year-old man. Multifocal papillary-solid areas contained necrosis among highly cellular fields with multiple mitoses. It was positive for WT1, CKAE1/AE3, calretinin, CK7 with negativity for CK5, PSA, TTF-1. Following mutations were revealed in PARP1 (NM_001618: c.2285T<C p.V762A), RNF213 (NM_001256071: c.3121G<A, p.A1041T), PAX8 (NM_013992: c.404A>G, p.K135R), MTRR (NM_024010: c.147A>G, p.I49M) and two sorts of mutations in structure of KMT2C gene (NM_170606: c.2447_2448insA (c.2447dupA), p.Y816fs and NM_170606: c.1042G>A, p.D348N) for the first time in MMTVT.

摘要

采用分子二代基因测序技术评估一名81岁男性睾丸鞘膜恶性间皮瘤（MMTVT）中409个常见的癌症相关突变基因的突变情况。多灶性乳头实性区域在细胞丰富且有多个有丝分裂的区域中含有坏死灶。WT1、CKAE1/AE3、钙视网膜蛋白、CK7呈阳性，CK5、PSA、TTF-1呈阴性。首次在MMTVT中发现PARP1（NM_001618：c.2285T<C，p.V762A）、RNF213（NM_001256071：c.3121G<A，p.A1041T）、PAX8（NM_013992：c.404A>G，p.K135R）、MTRR（NM_024010：c.147A>G，p.I49M）以及KMT2C基因结构中的两种突变（NM_170606：c.2447_2448insA（c.2447dupA），p.Y816fs和NM_170606：c.1042G>A，p.D348N）。