Molecular Genetic Analysis of Primary Renal Epithelial Tumours with Granular Oncocytic Cytoplasms

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11140%2F21%3A10438918" target="_blank" >RIV/00216208:11140/21:10438918 - isvavai.cz</a>

Result on the web

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=w3vsDcxCMO" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=w3vsDcxCMO</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.4067/S0717-95022021000601719" target="_blank" >10.4067/S0717-95022021000601719</a>

Result language

angličtina

Original language name

Molecular Genetic Analysis of Primary Renal Epithelial Tumours with Granular Oncocytic Cytoplasms

Original language description

The group of primary renal tumours with granular-oncocytic cytoplasm is a very heterogeneous group, in its histological origin and biological behavior resulting in many diagnostic problems. In this study 57 renal epithelial tumours with granular oncocytic cells were analyzed using fluorescence in situ hybridisation (FISH), array comparative genomic hybridisation (aCGH) and polymerase chain reaction (PCR). The results of analysis in renal oncocytoma (RO) did not indicate the presence of the gene mutations or chromosomal abnormalities. Sporadic renal hybrid oncocytic/chromophobe tumours (HOCT) had multiple numerical aberrations of chromosomes 1, 2, 6, 9, 10, 13, 17, 20, 21 and 22. This type of tumour had no mutations in the VHL, c-kit, PDGFRA, and FLCN genes. Oncocytic papillary renal cell carcinoma (O-PRCC) had numerical abnormalities of chromosomes 7 and 17 and the loss of the Y chromosome. Cytogenetic analysis of 20 pigmented microcystic chromophobe renal cell carcinomas (PMChRCC) showed monosomy as the most frequent aberration in all analyzed chromosomes 1, 2, 5, 10, 13, 17 and 21. One case of chromophobe renal cell carcinoma (ChRCC) with hyaline globules had a mutation in the distal part of exon 3 of the VHL gene. Absence of genetic disorders in usual RO is common result, but we have established absence of genetic disorders even in rare variants. Variety of genetic alterations detected in sporadic renal HOCT proves it to be a separate entity, not a variant of ChRCC, while PMChRCC is an uncommon variant of ChRCC. O-PRCC is a subtype of papillary renal cell carcinoma.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

30109 - Pathology

Project

—

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2021

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

International Journal of Morphology

ISSN

0717-9367

e-ISSN

—

Volume of the periodical

39

Issue of the periodical within the volume

6

Country of publishing house

CL - CHILE

Number of pages

8

Pages from-to

1719-1726

UT code for WoS article

000733224500032

EID of the result in the Scopus database

2-s2.0-85124395393