Nejvíce citovaný článek - PubMed ID 33878706
SalvGlandDx - a comprehensive salivary gland neoplasm specific next generation sequencing panel to facilitate diagnosis and identify therapeutic targets
Intraductal carcinoma (IDC) is a rare tumor of the salivary glands. Here, we report a unique case of apocrine IDC of the parotid gland of a 60-year-old male, exhibiting a striking sebaceous-like differentiation. Microscopically, the tumor displayed a papillary growth pattern with apocrine cells (AR-positive; S100/SOX10-negative) and distinct areas harboring clear, vacuolated cells resembling sebaceous cells (CK7/S100/SOX10-positive; AR negative). Molecular genetic analysis revealed mutations in AKT1 and BRAF genes. An AKT1 gene mutation has earlier been described in sclerosing polycystic adenoma (SPA), suggesting a possible link between IDC and SPA, while BRAF V600E mutations were reported in an oncocytic subtype of IDC, but not in the apocrine one. Since IDC is an indolent disease, its recognition is a key to prevent unwarranted overtreatment. Further evidence is needed to determine whether apocrine IDC with sebaceous-like differentiation represents a novel morphological variant of the apocrine subtype of IDC or a novel salivary gland entity.
- Klíčová slova
- AKT1 mutation, BRAF V600E mutation, Apocrine intraductal carcinoma, Foamy cell, Salivary, Sebaceous-like differentiation,
- MeSH
- apokrinní žlázy * patologie MeSH
- buněčná diferenciace MeSH
- duktální karcinom * patologie genetika MeSH
- lidé středního věku MeSH
- lidé MeSH
- mazové žlázy patologie MeSH
- mutace MeSH
- nádorové biomarkery analýza genetika MeSH
- nádory příušní žlázy * patologie genetika MeSH
- protoonkogenní proteiny B-Raf genetika MeSH
- protoonkogenní proteiny c-akt genetika MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- Názvy látek
- AKT1 protein, human MeSH Prohlížeč
- BRAF protein, human MeSH Prohlížeč
- nádorové biomarkery MeSH
- protoonkogenní proteiny B-Raf MeSH
- protoonkogenní proteiny c-akt MeSH