SMARCB1-deficient sinonasal adenocarcinoma: a rare variant of SWI/SNF-deficient malignancy often misclassified as high-grade non-intestinal-type sinonasal adenocarcinoma or myoepithelial carcinoma.

Autor: Skálová A; Department of Pathology, Faculty of Medicine in Pilsen, Charles University, E. Benese 13, 305 99, Pilsen, Czech Republic. skalova@biopticka.cz.; Bioptic Laboratory, Ltd., Pilsen, Czech Republic. skalova@biopticka.cz., Taheri T; Department of Anatomical Pathology, Queensland Health, Royal Brisbane and Women Hospital, University of Queensland, Brisbane, Australia., Bradová M; Department of Pathology, Faculty of Medicine in Pilsen, Charles University, E. Benese 13, 305 99, Pilsen, Czech Republic.; Bioptic Laboratory, Ltd., Pilsen, Czech Republic., Vaněček T; Molecular and Genetic Laboratory, Bioptic Laboratory, Ltd, Pilsen, Czech Republic., Franchi A; Department of Translational Research, School of Medicine, University of Pisa, Pisa, Italy., Slouka D; Department of Otorhinolaryngology, University Hospital in Pilsen, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic., Kostlivý T; Department of Otorhinolaryngology, University Hospital in Pilsen, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic., de Rezende G; Department of Anatomic Histopathology and Cytogenetics, Department of Laboratory Medicine, Niguarda Cancer Center, Milan, Italy., Michálek J; Department of Clinical and Molecular Pathology, University Hospital and Medical Faculty of Palacky University, Olomouc, Czech Republic., Klubíčková N; Department of Pathology, Faculty of Medicine in Pilsen, Charles University, E. Benese 13, 305 99, Pilsen, Czech Republic.; Bioptic Laboratory, Ltd., Pilsen, Czech Republic., Ptáková N; Molecular and Genetic Laboratory, Bioptic Laboratory, Ltd, Pilsen, Czech Republic., Nemcová A; Pathological Laboratories, Medicyt, Ltd., Košice, Slovak Republic., Michal M; Department of Pathology, Faculty of Medicine in Pilsen, Charles University, E. Benese 13, 305 99, Pilsen, Czech Republic.; Bioptic Laboratory, Ltd., Pilsen, Czech Republic., Agaimy A; Institute of Pathology, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nürnberg (FAU), Erlangen, Germany., Leivo I; Institute of Biomedicine, Pathology, University of Turku and Department of Pathology, Turku University Hospital, Turku, Finland.
Jazyk: angličtina
Zdroj: Virchows Archiv : an international journal of pathology [Virchows Arch] 2024 Aug; Vol. 485 (2), pp. 245-256. Date of Electronic Publication: 2023 Dec 12.
DOI: 10.1007/s00428-023-03650-2
Abstrakt: SMARCB1-deficient sinonasal adenocarcinoma is a rare variant of SWI/SNF-deficient malignancies with SMARCB1 loss and adenocarcinoma features. More than 200 high-grade epithelial sinonasal malignancies were retrieved. A total of 14 cases exhibited complete SMARCB1 (INI1) loss and glandular differentiation. SMARCA2 and SMARCA4 were normal, except for one case with a loss of SMARCA2. Next-generation sequencing (NGS) and/or fluorescence in situ hybridization (FISH) revealed an alteration in the SMARCB1 gene in 9/13 cases, while 2/13 were negative. Two tumors harbored SMARCB1 mutations in c.157C > T p.(Arg53Ter) and c.842G > A p.(Trp281Ter). One harbored ARID1B mutations in c.1469G > A p.(Trp490Ter) and MGA c.3724C > T p.(Arg1242Ter). Seven tumors had a SMARCB1 deletion. One carried an ESR1 mutation in c.644-2A > T, and another carried a POLE mutation in c.352_374del p.(Ser118GlyfsTer78). One case had a PAX3 mutation in c.44del p.(Gly15AlafsTer95). Histomorphology of SMARCB1-deficient adenocarcinoma was oncocytoid/rhabdoid and glandular, solid, or trabecular in 9/14 cases. Two had basaloid/blue cytoplasm and one showed focal signet ring cells. Yolk sac tumor-like differentiation with Schiller-Duval-like bodies was seen in 6/14 cases, with 2 cases showing exclusively reticular-microcystic yolk sac pattern. Follow-up of a maximum of 26 months (median 10 months) was available for 8/14 patients. Distant metastasis to the lung, liver, mediastinum, bone, and/or retroperitoneum was seen in 4/8 cases. Locoregional failure was seen in 75% of patients, with 6/8 local recurrences and 3 cervical lymph node metastases. At the last follow-up, 5 of 8 (62%) patients had died of their disease 2 to 20 months after diagnosis (median 8.2 months), and 3 were alive with the disease. The original diagnosis was usually high-grade non-intestinal-type adenocarcinoma or high-grade myoepithelial carcinoma. A correct diagnosis of these aggressive tumors could lead to improved targeted therapies with potentially better overall disease-specific survival.
(© 2023. The Author(s).)
Databáze: MEDLINE
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