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
Copyright policy )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
AbstractSMARCB1-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.
- University of Erlangen-Nuremberg Germany
- University of Queensland Australia
- University of Turku Finland
- Fatih University Medical Faculty Hospital Turkey
- University of Queensland Australia
Male, Adult, Adenocarcinoma, Myoepithelioma, Diagnosis, Differential, Head and neck, Rhabdoid, Biomarkers, Tumor, Humans, Sinonasal, In Situ Hybridization, Fluorescence, Aged, Aged, 80 and over, Aged, 80 and over [MeSH] ; Neoplasm Grading [MeSH] ; Aged [MeSH] ; Rhabdoid ; Transcription Factors/genetics [MeSH] ; DNA-Binding Proteins/deficiency [MeSH] ; DNA-Binding Proteins/genetics [MeSH] ; Diagnosis, Differential [MeSH] ; Yolk sac-like ; Original Article ; SMARCB1-deficient adenocarcinoma ; SMARCB1 Protein/deficiency [MeSH] ; Male [MeSH] ; Paranasal Sinus Neoplasms/genetics [MeSH] ; Adenocarcinoma/pathology [MeSH] ; SWI/SNF complex ; Next-generation sequencing ; Sinonasal ; Myoepithelioma/genetics [MeSH] ; Transcription Factors/deficiency [MeSH] ; Female [MeSH] ; Mutation [MeSH] ; Adult [MeSH] ; Head and neck ; Humans [MeSH] ; Myoepithelioma/pathology [MeSH] ; Middle Aged [MeSH] ; Paranasal Sinus Neoplasms/pathology [MeSH] ; Biomarkers, Tumor/genetics [MeSH] ; Adenocarcinoma/genetics [MeSH] ; SMARCB1 Protein/genetics [MeSH] ; In Situ Hybridization, Fluorescence [MeSH] ; High-Throughput Nucleotide Sequencing [MeSH], High-Throughput Nucleotide Sequencing, SMARCB1 Protein, Middle Aged, DNA-Binding Proteins, Mutation, Next-generation sequencing, Head and neck; Next-generation sequencing; Rhabdoid; SMARCB1-deficient adenocarcinoma; SWI/SNF complex; Sinonasal; Yolk sac-like, Original Article, Female, Neoplasm Grading, Paranasal Sinus Neoplasms, SWI/SNF complex, SMARCB1-deficient adenocarcinoma, Yolk sac-like, Transcription Factors
Male, Adult, Adenocarcinoma, Myoepithelioma, Diagnosis, Differential, Head and neck, Rhabdoid, Biomarkers, Tumor, Humans, Sinonasal, In Situ Hybridization, Fluorescence, Aged, Aged, 80 and over, Aged, 80 and over [MeSH] ; Neoplasm Grading [MeSH] ; Aged [MeSH] ; Rhabdoid ; Transcription Factors/genetics [MeSH] ; DNA-Binding Proteins/deficiency [MeSH] ; DNA-Binding Proteins/genetics [MeSH] ; Diagnosis, Differential [MeSH] ; Yolk sac-like ; Original Article ; SMARCB1-deficient adenocarcinoma ; SMARCB1 Protein/deficiency [MeSH] ; Male [MeSH] ; Paranasal Sinus Neoplasms/genetics [MeSH] ; Adenocarcinoma/pathology [MeSH] ; SWI/SNF complex ; Next-generation sequencing ; Sinonasal ; Myoepithelioma/genetics [MeSH] ; Transcription Factors/deficiency [MeSH] ; Female [MeSH] ; Mutation [MeSH] ; Adult [MeSH] ; Head and neck ; Humans [MeSH] ; Myoepithelioma/pathology [MeSH] ; Middle Aged [MeSH] ; Paranasal Sinus Neoplasms/pathology [MeSH] ; Biomarkers, Tumor/genetics [MeSH] ; Adenocarcinoma/genetics [MeSH] ; SMARCB1 Protein/genetics [MeSH] ; In Situ Hybridization, Fluorescence [MeSH] ; High-Throughput Nucleotide Sequencing [MeSH], High-Throughput Nucleotide Sequencing, SMARCB1 Protein, Middle Aged, DNA-Binding Proteins, Mutation, Next-generation sequencing, Head and neck; Next-generation sequencing; Rhabdoid; SMARCB1-deficient adenocarcinoma; SWI/SNF complex; Sinonasal; Yolk sac-like, Original Article, Female, Neoplasm Grading, Paranasal Sinus Neoplasms, SWI/SNF complex, SMARCB1-deficient adenocarcinoma, Yolk sac-like, Transcription Factors
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