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Uterine sarcoma with KAT6B/A::KANSL1 fusion: a molecular and clinicopathological study on 9 cases

P. Dundr, J. Dvořák, M. Krausová, J. Hojný, N. Hájková, I. Stružinská, K. Němejcová, O. Ondič, M. Michal, K. Michalová, A. Berjón, M. Jedryka, M. Książek, T. Poprawski, J. Ryś, N. Volodko, I. Zapardiel, T. Zima, D. Cibula, R. Poncová, R. Matěj,...

. 2025 ; 486 (3) : 551-562. [pub] 20241204

Jazyk angličtina Země Německo

Typ dokumentu časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/bmc25009739

Grantová podpora
MH CZ DRO-VFN 64165 Ministerstvo Zdravotnictví Ceské Republiky
AZV NU21-03-00122 Agentura Pro Zdravotnický Výzkum České Republiky
Project UNCE 24/MED/018 Univerzita Karlova v Praze
EF16_013/0001674 European Regional Development Fund
BBMRI_CZ LM2023033 European Regional Development Fund

Uterine sarcomas with KAT6B/A::KANSL1 fusion represent a new entity characterized by bland morphology, commonly with hybrid features of low-grade endometrial stromal sarcoma (LG-ESS) and tumors with smooth muscle differentiation. In our study, we performed a detailed morphological, immunohistochemical, and molecular analysis of 9 cases of these tumors. Six of those had been originally diagnosed as LG-ESS, one as leiomyoma, one as leiomyosarcoma, and the remaining case as sarcoma with the KAT6B/A::KANSL1 fusion. Seven cases showed overlapping features between endometrial stromal and smooth muscle tumors, one case resembled cellular leiomyoma, and one case resembled high-grade endometrial stromal sarcoma. Immunohistochemically, the tumors showed a common expression of smooth muscle markers and endometrial stromal markers. Molecular findings showed the KAT6B/A::KANSL1 fusion in all cases (by NGS and FISH). In addition, mutations affecting genes such as TP53, PDGFRB, NF1, RB1, PTEN, ATM, RB1, FANCD2, and TSC1 were present in all 5 cases with aggressive behavior. One patient with no evidence of disease showed no additional mutations, while another harbored a mutation of a single gene (ERCC3). Of the 8 patients with available follow-up, two died of disease, 3 are currently alive with disease, and 3 have no evidence of disease. The correct recognition of tumors with the KAT6B/A::KANSL1 fusion is essential because despite the bland morphological features of most cases, these tumors have a propensity for aggressive behavior.

Citace poskytuje Crossref.org

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$a Berjón, Alberto $u Pathology Department, La Paz University Hospital, Madrid, Spain
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$a Jedryka, Marcin $u Oncology Department, Wroclaw Medical University, Wroclaw, Poland $u Oncological Gynecology Department, Lower Silesian Oncology, Pulmonology and Hematology Center, Wroclaw, Poland
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