Uterine leiomyoma with RAD51B::NUDT3 fusion: a report of 2 cases
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064173%3A_____%2F24%3A43925904" target="_blank" >RIV/00064173:_____/24:43925904 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/24:10466018 RIV/00216208:11120/24:43925904 RIV/00064165:_____/24:10466018
Result on the web
<a href="https://doi.org/10.1007/s00428-023-03603-9" target="_blank" >https://doi.org/10.1007/s00428-023-03603-9</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1007/s00428-023-03603-9" target="_blank" >10.1007/s00428-023-03603-9</a>
Alternative languages
Result language
angličtina
Original language name
Uterine leiomyoma with RAD51B::NUDT3 fusion: a report of 2 cases
Original language description
Three main uterine leiomyoma molecular subtypes include tumors with MED12 mutation, molecular aberrations leading to HMGA2 overexpression, and biallelic loss of FH. These aberrations are mutually exclusive and can be found in approximately 80-90% of uterine leiomyoma, in which they seem to be a driver event. Approximately 10% of uterine leiomyoma, however, does not belong to any of these categories. Uterine leiomyoma with HMGA2 overexpression is the most common subtype in cellular and second most common category of usual leiomyoma. In some of these tumors, rearrangement of HMGA2 gene is present. The most common fusion partner of HMGA2 gene is RAD51B. Limited data suggests that RAD51B fusions with other genes may be present in uterine leiomyoma. In our study, we described two cases of uterine leiomyoma with RAD51B::NUDT3 fusion, which occur in one case of usual and one case of highly cellular leiomyoma. In both cases, no other driver molecular aberrations were found. The results of our study showed that RAD51::NUDT3 fusion can occur in both usual and cellular leiomyoma. RAD51B may be a fusion partner of multiple genes other than HMGA2 and HMGA1. In these cases, RAD51B fusion seems to be mutually exclusive with other driver aberrations defining molecular leiomyoma subtypes. RAD51B::NUDT3 fusion should be added to the spectrum of fusions which may occur in uterine leiomyoma, which can be of value especially in cellular leiomyoma in the context of differential diagnosis against endometrial stromal tumors.
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
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2024
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Virchows Archiv
ISSN
0945-6317
e-ISSN
1432-2307
Volume of the periodical
484
Issue of the periodical within the volume
6
Country of publishing house
DE - GERMANY
Number of pages
8
Pages from-to
1015-1022
UT code for WoS article
001032022500001
EID of the result in the Scopus database
2-s2.0-85165135326