eISSN: 2084-9869
ISSN: 1233-9687
Polish Journal of Pathology
Current issue Archive Manuscripts accepted About the journal Supplements Editorial board Abstracting and indexing Subscription Contact Instructions for authors Ethical standards and procedures
SCImago Journal & Country Rank
1/2020
vol. 71
 
Share:
Share:
more
 
 
abstract:
Case report

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

Artur Kowalik
1, 2
,
Andrzej Wincewicz
2
,
Sebastian Zięba
1
,
Wojciech Baran
3
,
Janusz Kopczyński
4
,
Mariusz Koda
5
,
Stanisław Sulkowski
5
,
Stanisław Goźdź
6, 7

1.
Department of Molecular Diagnostics, Holy Cross Oncology Centre, Kielce, Poland
2.
Division of Medical Biology, Institute of Biology Jan Kochanowski University, Kielce, Poland
3.
Department of Urology, Saint Raphael Voivodship Specialist Hospital, Checiny, Poland
4.
Department of Pathology, Holy Cross Oncology Centre, Kielce, Poland
5.
Department of General Pathomorphology, Medical University of Bialystok, Bialystok, Poland
6.
Department of Clinical Oncology, Holy Cross Oncology Centre, Kielce, Poland
7.
Faculty of Health Sciences, Jan Kochanowski University, Kielce, Poland
Pol J Pathol 2020; 71 (1): 69-74
Online publish date: 2020/05/20
View full text
Get citation
ENW
EndNote
BIB
JabRef, Mendeley
RIS
Papers, Reference Manager, RefWorks, Zotero
AMA
APA
Chicago
Harvard
MLA
Vancouver
 
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

Quick links
© 2020 Termedia Sp. z o.o. All rights reserved.
Developed by Bentus.
PayU - płatności internetowe