Uterine leiomyoma with RAD51B::NUDT3 fusion: a report of 2 cases.
Cellular leiomyoma
RAD51B::NUDT3 fusion
Uterine leiomyoma
Journal
Virchows Archiv : an international journal of pathology
ISSN: 1432-2307
Titre abrégé: Virchows Arch
Pays: Germany
ID NLM: 9423843
Informations de publication
Date de publication:
19 Jul 2023
19 Jul 2023
Historique:
received:
07
04
2023
accepted:
11
07
2023
revised:
04
07
2023
medline:
19
7
2023
pubmed:
19
7
2023
entrez:
19
7
2023
Statut:
aheadofprint
Résumé
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.
Identifiants
pubmed: 37466765
doi: 10.1007/s00428-023-03603-9
pii: 10.1007/s00428-023-03603-9
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Ministerstvo Zdravotnictví Ceské Republiky
ID : MH CZ DRO-VFN 64165
Organisme : Ministerstvo Zdravotnictví Ceské Republiky
ID : AZV NU 21-03-00122
Organisme : European Regional Development Fund
ID : BBMRI_CZ LM2023033
Organisme : European Regional Development Fund
ID : EF16_013/0001674
Organisme : Univerzita Karlova v Praze
ID : UNCE204065
Organisme : Generalitat Valenciana
ID : FDEGENT/2019/010
Organisme : Miguel Servet Spanish Program
ID : CP19/00162
Organisme : Helth Research Funds Carlos III Institute
ID : PI20/00942
Informations de copyright
© 2023. The Author(s).
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