PMID- 38085333 OWN - NLM STAT- Publisher LR - 20231212 IS - 1432-2307 (Electronic) IS - 0945-6317 (Linking) DP - 2023 Dec 12 TI - 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. LID - 10.1007/s00428-023-03650-2 [doi] AB - 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. CI - (c) 2023. The Author(s). FAU - Skalova, Alena AU - Skalova A AD - Department of Pathology, Faculty of Medicine in Pilsen, Charles University, E. Benese 13, 305 99, Pilsen, Czech Republic. skalova@biopticka.cz. AD - Bioptic Laboratory, Ltd., Pilsen, Czech Republic. skalova@biopticka.cz. FAU - Taheri, Touraj AU - Taheri T AD - Department of Anatomical Pathology, Queensland Health, Royal Brisbane and Women Hospital, University of Queensland, Brisbane, Australia. FAU - Bradova, Martina AU - Bradova M AD - Department of Pathology, Faculty of Medicine in Pilsen, Charles University, E. Benese 13, 305 99, Pilsen, Czech Republic. AD - Bioptic Laboratory, Ltd., Pilsen, Czech Republic. FAU - Vanecek, Tomas AU - Vanecek T AD - Molecular and Genetic Laboratory, Bioptic Laboratory, Ltd, Pilsen, Czech Republic. FAU - Franchi, Alessandro AU - Franchi A AD - Department of Translational Research, School of Medicine, University of Pisa, Pisa, Italy. FAU - Slouka, David AU - Slouka D AD - Department of Otorhinolaryngology, University Hospital in Pilsen, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic. FAU - Kostlivy, Tomas AU - Kostlivy T AD - Department of Otorhinolaryngology, University Hospital in Pilsen, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic. FAU - de Rezende, Gisele AU - de Rezende G AD - Department of Anatomic Histopathology and Cytogenetics, Department of Laboratory Medicine, Niguarda Cancer Center, Milan, Italy. FAU - Michalek, Jaroslav AU - Michalek J AD - Department of Clinical and Molecular Pathology, University Hospital and Medical Faculty of Palacky University, Olomouc, Czech Republic. FAU - Klubickova, Natalie AU - Klubickova N AD - Department of Pathology, Faculty of Medicine in Pilsen, Charles University, E. Benese 13, 305 99, Pilsen, Czech Republic. AD - Bioptic Laboratory, Ltd., Pilsen, Czech Republic. FAU - Ptakova, Nicola AU - Ptakova N AD - Molecular and Genetic Laboratory, Bioptic Laboratory, Ltd, Pilsen, Czech Republic. FAU - Nemcova, Antonia AU - Nemcova A AD - Pathological Laboratories, Medicyt, Ltd., Kosice, Slovak Republic. FAU - Michal, Michal AU - Michal M AD - Department of Pathology, Faculty of Medicine in Pilsen, Charles University, E. Benese 13, 305 99, Pilsen, Czech Republic. AD - Bioptic Laboratory, Ltd., Pilsen, Czech Republic. FAU - Agaimy, Abbas AU - Agaimy A AD - Institute of Pathology, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nurnberg (FAU), Erlangen, Germany. FAU - Leivo, Ilmo AU - Leivo I AD - Institute of Biomedicine, Pathology, University of Turku and Department of Pathology, Turku University Hospital, Turku, Finland. LA - eng PT - Journal Article DEP - 20231212 PL - Germany TA - Virchows Arch JT - Virchows Archiv : an international journal of pathology JID - 9423843 SB - IM OTO - NOTNLM OT - Head and neck OT - Next-generation sequencing OT - Rhabdoid OT - SMARCB1-deficient adenocarcinoma OT - SWI/SNF complex OT - Sinonasal OT - Yolk sac-like EDAT- 2023/12/12 12:41 MHDA- 2023/12/12 12:41 CRDT- 2023/12/12 11:06 PHST- 2023/08/04 00:00 [received] PHST- 2023/09/12 00:00 [accepted] PHST- 2023/09/01 00:00 [revised] PHST- 2023/12/12 12:41 [medline] PHST- 2023/12/12 12:41 [pubmed] PHST- 2023/12/12 11:06 [entrez] AID - 10.1007/s00428-023-03650-2 [pii] AID - 10.1007/s00428-023-03650-2 [doi] PST - aheadofprint SO - Virchows Arch. 2023 Dec 12. doi: 10.1007/s00428-023-03650-2.