Clinical and genetic features of rhabdoid tumors of the heart registered with the European Rhabdoid Registry (EU-RHAB)

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F14%3A10293077" target="_blank" >RIV/00064203:_____/14:10293077 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11130/14:10293077

Result on the web

<a href="http://dx.doi.org/10.1016/j.cancergen.2014.04.005" target="_blank" >http://dx.doi.org/10.1016/j.cancergen.2014.04.005</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.cancergen.2014.04.005" target="_blank" >10.1016/j.cancergen.2014.04.005</a>

Result language

angličtina

Original language name

Clinical and genetic features of rhabdoid tumors of the heart registered with the European Rhabdoid Registry (EU-RHAB)

Original language description

Rhabdoid tumors are rare but highly aggressive malignancies of infancy and early childhood with a generally unfavorable prognosis. Despite a wide variety of anatomic locations rhabdoid tumors share mutational inactivation of the SWI/SNF (SWItch/Sucrose NonFermentable) core component gene SMARCB1 (also known as INI1, hSNF5 or BAF47) in chromosome 22. As this inactivation usually results in loss of SMARCB1 expression, detectable by an antibody against the SMARCB1 protein, the accurate diagnosis of a rhabdoid tumor may be more distinctly and frequently made. Several reports on rhabdoid tumors presenting in various anatomic sites outside the kidneys and CNS are on record. We report two cases of rhabdoid tumors originating in the heart (cardiac tissue), which were entered into the European Rhabdoid Registry (EU-RHAB). The first case presented with intracardial and -cranial lesions as well as malignant ascites, while the second patient demonstrated an isolated cardiac tumor. This induced a d

Czech name

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Czech description

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Type

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

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

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Project

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Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2014

Confidentiality

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

Name of the periodical

Cancer genetics

ISSN

2210-7762

e-ISSN

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Volume of the periodical

207

Issue of the periodical within the volume

9

Country of publishing house

US - UNITED STATES

Number of pages

5

Pages from-to

379-383

UT code for WoS article

000346819600007

EID of the result in the Scopus database

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