Molecular genetic alterations in renal cell carcinomas with tubulocystic pattern: tubulocystic renal cell carcinoma, tubulocystic renal cell carcinoma with heterogenous component and familial leiomyomatosis-associated renal cell carcinoma. Clinicopathologic and molecular genetic analysis of 15 cases

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00669806%3A_____%2F16%3A10326303" target="_blank" >RIV/00669806:_____/16:10326303 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11140/16:10326303

Result on the web

<a href="http://dx.doi.org/10.1097/PAI.0000000000000213" target="_blank" >http://dx.doi.org/10.1097/PAI.0000000000000213</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1097/PAI.0000000000000213" target="_blank" >10.1097/PAI.0000000000000213</a>

Result language

angličtina

Original language name

Molecular genetic alterations in renal cell carcinomas with tubulocystic pattern: tubulocystic renal cell carcinoma, tubulocystic renal cell carcinoma with heterogenous component and familial leiomyomatosis-associated renal cell carcinoma. Clinicopathologic and molecular genetic analysis of 15 cases

Original language description

The characteristic morphologic spectrum of tubulocystic renal cell carcinoma (TC-RCC) may include areas resembling papillary RCC (PRCC). Our study includes 15 RCCs with tubulocystic pattern: 6 TC-RCCs, 1 RCC-high grade with tubulocystic architecture, 5 TC-RCCs with foci of PRCC, 2 with high-grade RCC (HGRCC) not otherwise specified, and 1 with a clear cell papillary RCC/renal angiomyoadenomatous tumor-like component. We analyzed aberrations of chromosomes 7, 17, and Y; mutations of VHL and FH genes; and loss of heterozygosity at chromosome 3p. Genetic analysis was performed separately in areas of classic TC-RCC and in those with other histologic patterns. The TC-RCC component demonstrated disomy of chromosome 7 in 9/15 cases, polysomy of chromosome 17 in 7/15 cases, and loss of Y in 1 case. In the PRCC component, 2/3 analyzable cases showed disomy of chromosome 7 and polysomy of chromosome 17 with normal Y. One case with focal HGRCC exhibited only disomy 7, whereas the case with clear cell papillary RCC/renal angiomyoadenomatous tumor-like pattern showed polysomies of 7 and 17, mutation of VHL, and loss of heterozygosity 3p. FH gene mutation was identified in a single case with an aggressive clinical course and predominant TC-RCC pattern. The following conclusions were drawn: (1) TC-RCC demonstrates variable status of chromosomes 7, 17, and Y even in cases with typical/uniform morphology. (2) The biological nature of PRCC/HGRCC-like areas within TC-RCC remains unclear. Our data suggest that heterogenous TC-RCCs may be associated with an adverse clinical outcome. (3) Hereditary leiomyomatosis-associated RCC can be morphologically indistinguishable from "high-grade" TC-RCC; therefore, in TC-RCC with high-grade features FH gene status should be tested.

Czech name

—

Czech description

—

Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FP - Other medical fields

OECD FORD branch

—

Project

<a href="/en/project/ED2.1.00%2F03.0076" target="_blank" >ED2.1.00/03.0076: Biomedical Centre of the Faculty of Medicine in Pilsen</a><br>

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2016

Confidentiality

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

Name of the periodical

Applied Immunohistochemistry and Molecular Morphology

ISSN

1541-2016

e-ISSN

—

Volume of the periodical

24

Issue of the periodical within the volume

7

Country of publishing house

US - UNITED STATES

Number of pages

10

Pages from-to

521-530

UT code for WoS article

000381430800012

EID of the result in the Scopus database

2-s2.0-84944339721