Changes on chromosome 11p15.5 as specific marker for embryonal rhabdomyosarcoma?
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064173%3A_____%2F23%3A43925924" target="_blank" >RIV/00064173:_____/23:43925924 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/23:10466298 RIV/00216208:11120/23:43925924 RIV/00064203:_____/23:10466298
Result on the web
<a href="https://doi.org/10.1002/gcc.23194" target="_blank" >https://doi.org/10.1002/gcc.23194</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1002/gcc.23194" target="_blank" >10.1002/gcc.23194</a>
Alternative languages
Result language
angličtina
Original language name
Changes on chromosome 11p15.5 as specific marker for embryonal rhabdomyosarcoma?
Original language description
Rhabdomyosarcomas (RMS) constitute a heterogeneous spectrum of tumors with respect to clinical behavior and tumor morphology. The paternal uniparental disomy (pUPD) of 11p15.5 is a molecular change described mainly in embryonal RMS. In addition to LOH, UPD, the MLPA technique (ME030kit) also determines copy number variants and methylation of H19 and KCNQ1OT1 genes, which have not been systematically investigated in RMS. All 127 RMS tumors were divided by histology and PAX status into four groups, pleomorphic histology (n = 2); alveolar RMS PAX fusion-positive (PAX+; n = 39); embryonal RMS (n = 70) and fusion-negative RMS with alveolar pattern (PAX-RMS-AP; n = 16). The following changes were detected; negative (n = 21), pUPD (n = 75), gain of paternal allele (n = 9), loss of maternal allele (n = 9), hypermethylation of H19 (n = 6), hypomethylation of KCNQ1OT1 (n = 6), and deletion of CDKN1C (n = 1). We have shown no difference in the frequency of pUPD 11p15.5 in all groups. Thus, we have proven that changes in the 11p15.5 are not only specific to the embryonal RMS (ERMS), but are often also present in alveolar RMS (ARMS). We have found changes that have not yet been described in RMS. We also demonstrated new potential diagnostic markers for ERMS (paternal duplication and UPD of whole chromosome 11) and for ARMS PAX+ (hypomethylation KCNQ1OT1).
Czech name
—
Czech description
—
Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
—
OECD FORD branch
30101 - Human genetics
Result continuities
Project
<a href="/en/project/LX22NPO5102" target="_blank" >LX22NPO5102: National institute for cancer research</a><br>
Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2023
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Genes, Chromosomes & Cancer
ISSN
1045-2257
e-ISSN
1098-2264
Volume of the periodical
62
Issue of the periodical within the volume
12
Country of publishing house
US - UNITED STATES
Number of pages
8
Pages from-to
732-739
UT code for WoS article
001041476000001
EID of the result in the Scopus database
2-s2.0-85166634411