Endometrial stromal tumor with whorling and GREB1::CTNNB1 fusion-a case report on a rare entity
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11140%2F25%3A10482086" target="_blank" >RIV/00216208:11140/25:10482086 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/25:10482086 RIV/00064165:_____/25:10482086
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=9kbGRzd3bd" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=9kbGRzd3bd</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1007/s00428-024-03869-7" target="_blank" >10.1007/s00428-024-03869-7</a>
Alternative languages
Result language
angličtina
Original language name
Endometrial stromal tumor with whorling and GREB1::CTNNB1 fusion-a case report on a rare entity
Original language description
Endometrial stromal tumors are rare lesions with a diverse morphology, which may make achieving the correct diagnosis challenging in some cases. We report a case of a uterine mesenchymal tumor diagnosed as endometrial stromal nodule with a peculiar whorled morphology and GREB1::CTNNB1 fusion confirmed by transcriptome RNA sequencing. The tumor was sharply demarcated, lacked invasive growth, and had benign behavior, as the patient remained without disease recurrence 15 years later. Immunohistochemically, the tumor cells showed diffuse nuclear expression of beta-catenin, confirming the activation of the beta-catenin pathway. Our case represents only the 4th reported case of CTNNB1-rearranged endometrial stromal tumor with extensive whorling. The biological nature of uterine tumors characterized by whorled morphology and rearrangement of CTNNB1 is not yet clear, which underscores the importance of genetic profiling for accurate diagnosis and potential targeted therapies in malignant cases.
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
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2025
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
486
Issue of the periodical within the volume
3
Country of publishing house
DE - GERMANY
Number of pages
6
Pages from-to
633-638
UT code for WoS article
001271573900002
EID of the result in the Scopus database
2-s2.0-85198511585