Department of Pathology, University of Michigan Medical School, Ann Arbor, Michigan; Department of Dermatology, University of Michigan Medical School, Ann Arbor, Michigan; Rogel Comprehensive Cancer Center, University of Michigan Medical School, Ann Arbor, Michigan; Michigan Center for Translational Pathology, University of Michigan Medical School, Ann Arbor, Michigan.
Department of Dermatology, University of Michigan Medical School, Ann Arbor, Michigan.
Mod Pathol. 2024 Nov;37(11):100592. doi: 10.1016/j.modpat.2024.100592. Epub 2024 Aug 21.
Squamoid eccrine ductal carcinoma is a rare infiltrative tumor with morphologic features intermediate between squamous cell carcinoma (SCC) and sweat gland carcinomas such as microcystic adnexal carcinoma. Although currently classified as a sweat gland carcinoma, it has been debated whether squamoid eccrine ductal carcinoma is better classified as a variant of SCC. Furthermore, therapeutic options for patients with advanced disease are lacking. Here, we describe clinicopathologic features of a cohort of 15 squamoid eccrine ductal carcinomas from 14 unique patients, with next-generation sequencing DNA profiling for 12 cases. UV signature mutations were the dominant signature in the majority of cases. TP53 mutations were the most highly recurrent specific gene alteration, followed by mutations in NOTCH genes. Recurrent mutations in driver oncogenes were not identified. By unsupervised comparison of global transcriptome profiles in squamoid eccrine ductal carcinoma (n = 7) to SCC (n = 10), porocarcinoma (n = 4), and microcystic adnexal carcinoma (n = 4), squamoid eccrine ductal carcinomas displayed an intermediate phenotype between SCC and sweat gland tumors. Squamoid eccrine ductal carcinoma displayed significantly higher expression of 364 genes (including certain eccrine markers) and significantly lower expression of 525 genes compared with other groups. Our findings support the classification of squamoid eccrine ductal carcinoma as a carcinoma with intermediate features between SCC and sweat gland carcinoma.
鳞样汗腺导管癌是一种罕见的浸润性肿瘤，其形态特征介于鳞状细胞癌 (SCC) 和汗腺癌之间，如微囊性附属器癌。尽管目前被归类为汗腺癌，但关于鳞样汗腺导管癌是否更好地归类为 SCC 的变体仍存在争议。此外，晚期患者的治疗选择也缺乏。在这里，我们描述了 14 名独特患者的 15 例鳞样汗腺导管癌的临床病理特征，并对 12 例进行了下一代测序 DNA 分析。紫外线特征突变是大多数病例的主要特征。TP53 突变是最常见的特定基因改变，其次是 NOTCH 基因的突变。未发现驱动基因突变。通过对 7 例鳞样汗腺导管癌（n=7）、10 例 SCC（n=10）、4 例 Porocarcinoma（n=4）和 4 例微囊性附属器癌（n=4）的全转录组谱进行无监督比较，鳞样汗腺导管癌显示出介于 SCC 和汗腺肿瘤之间的中间表型。与其他组相比，鳞样汗腺导管癌显示出 364 个基因（包括某些汗腺标志物）的显著高表达和 525 个基因的显著低表达。我们的发现支持将鳞样汗腺导管癌归类为 SCC 和汗腺癌之间具有中间特征的癌。
