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

Analysis of mutations of PARP1, RNF213, PAX8, KMT2C, MTRR in malignant mesothelioma of testicular tunica vaginalis testis. Pol J Pathol. 2020;71(1):69-74 Authors: Kowalik A, Wincewicz A, Zięba S, Baran W, Kopczyński J, Koda M, Sulkowski S, Goźdź S 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. PMID: 32429658 [PubMed - in process]
Source: Polish Journal of Pathology - Category: Pathology Tags: Pol J Pathol Source Type: research