Fumarate hydratase deficient renal cell carcinoma: Chromosomal numerical aberration analysis of 12 cases
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00669806%3A_____%2F19%3A10402103" target="_blank" >RIV/00669806:_____/19:10402103 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11140/19:10402103
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=QmxlKo3x8U" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=QmxlKo3x8U</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.anndiagpath.2019.02.008" target="_blank" >10.1016/j.anndiagpath.2019.02.008</a>
Alternative languages
Result language
angličtina
Original language name
Fumarate hydratase deficient renal cell carcinoma: Chromosomal numerical aberration analysis of 12 cases
Original language description
Hereditary leiomyomatosis and renal cell carcinoma-associated renal cell carcinoma (HLRCC)/fumarate hydratase deficient renal cell carcinoma (FHRCC) is defined by molecular genetic changes (mutation/LOH in fumarate hydratase (FH) gene). We investigated chromosomal numerical aberration pattern (CNV) in FHRCC/HLRCC using array comparative genomic hybridization analysis and low pass whole genome sequencing. Genetic analysis was successfully completed in 12 tumors. Most common chromosomal aberrations detected were a complete or partial loss of chromosome 4 (5/12 cases), chromosome 15 (4/12 cases), and chromosomes 9, 13, and 14 (each in 3/12 cases), as well as a complete or partial gain of chromosome 17 (in 4/12 cases). No chromosomal losses or gains were detected in 4 cases. Copy number variation pattern in FHRCC/HLRCC appears to be highly variable and does not provide a useful diagnostic tool in identifying these cases. Immunohistochemical staining and especially molecular genetic evaluation of FH gene mutations/LOH remain the gold standard in identifying FHRCC/HLRCC.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - 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
Result continuities
Project
—
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2019
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Annals of Diagnostic Pathology
ISSN
1092-9134
e-ISSN
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Volume of the periodical
39
Issue of the periodical within the volume
April
Country of publishing house
US - UNITED STATES
Number of pages
6
Pages from-to
63-68
UT code for WoS article
000468011000010
EID of the result in the Scopus database
2-s2.0-85061659649