Abstract
1/2020
vol. 71
Case report
Analysis of mutations of PARP1, RNF213, PAX8, KMT2C, MTRR in malignant mesothelioma of testicular tunica vaginalis testis
- Department of Molecular Diagnostics, Holy Cross Oncology Centre, Kielce, Poland
- Division of Medical Biology, Institute of Biology Jan Kochanowski University, Kielce, Poland
- Department of Urology, Saint Raphael Voivodship Specialist Hospital, Checiny, Poland
- Department of Pathology, Holy Cross Oncology Centre, Kielce, Poland
- Department of General Pathomorphology, Medical University of Bialystok, Bialystok, Poland
- Department of Clinical Oncology, Holy Cross Oncology Centre, Kielce, Poland
- Faculty of Health Sciences, Jan Kochanowski University, Kielce, Poland
Pol J Pathol 2020; 71 (1): 69-74
Online publish date: 2020/05/20
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.2285TG, 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.
Keywords
PARP1, RNF213, PAX8, KMT2C, MTRR, KMT2C, mesothelioma, testicular tunica vaginalis
Integrated with
