Most cited article - PubMed ID 31876536
Sinonasal Undifferentiated Carcinoma (SNUC): From an Entity to Morphologic Pattern and Back Again-A Historical Perspective
• The CPG provides key recommendations and algorithms for managing SMs, excluding mucosal melanoma and soft-tissue sarcomas. • The guideline covers diagnosis, staging, risk assessment, treatment and disease monitoring. • Technological advancements in treatment with RT are discussed with a special focus on particle therapy. • Surgical indications for open and transnasal endoscopic surgery are provided. • Neoadjuvant chemotherapy in high-grade, locally advanced SMs helps to select subjects for conservative treatments.
- Keywords
- (neoadjuvant) chemotherapy, endoscopic surgery, proton therapy, radiotherapy, sinonasal carcinomas,
- Publication type
- Journal Article MeSH
- Practice Guideline MeSH
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.
- Keywords
- Head and neck, Next-generation sequencing, Rhabdoid, SMARCB1-deficient adenocarcinoma, SWI/SNF complex, Sinonasal, Yolk sac-like,
- MeSH
- Adenocarcinoma * genetics pathology MeSH
- Diagnosis, Differential MeSH
- DNA-Binding Proteins genetics deficiency MeSH
- Adult MeSH
- SMARCB1 Protein * deficiency genetics MeSH
- In Situ Hybridization, Fluorescence MeSH
- Middle Aged MeSH
- Humans MeSH
- Mutation * MeSH
- Myoepithelioma * genetics pathology MeSH
- Biomarkers, Tumor genetics MeSH
- Paranasal Sinus Neoplasms * genetics pathology MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Neoplasm Grading MeSH
- Transcription Factors * genetics deficiency MeSH
- High-Throughput Nucleotide Sequencing MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Names of Substances
- DNA-Binding Proteins MeSH
- SMARCB1 Protein * MeSH
- Biomarkers, Tumor MeSH
- SMARCB1 protein, human MeSH Browser
- Transcription Factors * MeSH