João David, Feltri Monica, Klubickova Natalie, Michal Michal, Kacerovská Denisa, Skálová Alena
Department of Pathology, ULS Gaia e Espinho, Vila Nova de Gaia, Portugal.
Department of Pathology, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
Virchows Arch. 2024 Oct 24. doi: 10.1007/s00428-024-03947-w.
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.
导管内癌(IDC)是一种罕见的涎腺肿瘤。在此,我们报告一例60岁男性腮腺大汗腺型IDC的独特病例,该肿瘤表现出显著的皮脂腺样分化。显微镜下,肿瘤呈乳头状生长模式,有大汗腺细胞(雄激素受体阳性;S100/SOX10阴性),且有明显区域含有类似皮脂腺细胞的透明、空泡状细胞(细胞角蛋白7/S100/SOX10阳性;雄激素受体阴性)。分子遗传学分析显示AKT1和BRAF基因存在突变。AKT1基因突变此前已在硬化性多囊性腺瘤(SPA)中被描述,提示IDC与SPA之间可能存在联系,而BRAF V600E突变在一种嗜酸细胞型IDC中被报道,但在大汗腺型中未见报道。由于IDC是一种惰性疾病,认识它是防止不必要过度治疗的关键。需要进一步的证据来确定具有皮脂腺样分化的大汗腺型IDC是代表大汗腺型IDC的一种新的形态学变异还是一种新的涎腺实体。