Polish Journal of Pathology (May 2020)

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

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

DOI
https://doi.org/10.5114/pjp.2020.95418
Journal volume & issue
Vol. 71, no. 1
pp. 69 – 74

Abstract

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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.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.

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