Uterine sarcoma with KAT6B/A::KANSL1 fusion: a molecular and clinicopathological study on 9 cases
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.
Authors
- Kristýna Němejcová (ORCID: https://orcid.org/0000-0001-9340-9320)
- Tomáš Zima (ORCID: https://orcid.org/0000-0001-8518-6972)
- Radoslav Matěj
- Ignacio Zapardiel (ORCID: https://orcid.org/0000-0002-9175-7767)
- Renata Poncová
- Alberto Berjón (ORCID: https://orcid.org/0000-0002-3467-106X)
- Květoslava Michalová (ORCID: https://orcid.org/0000-0003-3231-6870)
- Michael Michal (ORCID: https://orcid.org/0000-0003-4403-7027)
- Mariusz Książek
- Nikola Hájková (ORCID: https://orcid.org/0000-0002-1683-7783)
- J. Hojný (ORCID: https://orcid.org/0000-0002-3563-2484)
- Michaela Krausová
- Nataliya Volodko
- David Cibula (ORCID: https://orcid.org/0000-0001-6387-9356)
- Tymoteusz Poprawski (ORCID: https://orcid.org/0009-0005-6039-8537)
- Ondřej Ondič (ORCID: https://orcid.org/0000-0002-4038-5641)
- Marcin Jędryka (ORCID: https://orcid.org/0000-0001-8935-0311)
- Michaela Bártů (ORCID: https://orcid.org/0000-0002-5869-3618)
- Jiří Dvořák (ORCID: https://orcid.org/0000-0002-3714-7781)
- Pavel Dundr (ORCID: https://orcid.org/0000-0002-8940-6124)
- Ivana Stružinská (ORCID: https://orcid.org/0000-0002-8451-4222)
- Janusz Ryś
Institutions
- Charles University (CZ)
- Danylo Halytsky Lviv National Medical University (UA)
- Hospital Universitario La Paz (ES)
- Wroclaw Medical University (PL)
- Lublin Oncology Center (PL)
- Biopticka Laborator (Czechia) (CZ)
- Thomayer University Hospital (CZ)
- The Maria Sklodowska-Curie National Research Institute of Oncology (PL)
- University Hospital Kralovske Vinohrady (CZ)
- General University Hospital in Prague (CZ)
Publication Details
- Journal
- Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin
- Published
- 2024-12-04
- DOI
- https://doi.org/10.1007/s00428-024-03994-3
- Citations
- 7
- Primary Topic
- Uterine Myomas and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 4.08
Funders
- Univerzita Karlova v Praze
- Ministerstvo Zdravotnictví Ceské Republiky
- Agentura Pro Zdravotnický Výzkum České Republiky
- lékařská fakulta Univerzity Karlovy
- European Regional Development Fund