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Karl D. Lewis, MD


Microcystic Adnexal Carcinoma: Upregulated Genes May Offer Diagnostic and Therapeutic Insights

By: Vanessa A. Carter, BS
Posted: Monday, July 25, 2022

Huajun Sun, of the Chinese Academy of Sciences Sichuan Translational Medicine Research Hospital, and colleagues aimed to detect molecular aberrations related to microcystic adnexal carcinoma to elucidate its pathologic diagnosis and treatment. Published in the World Journal of Surgical Oncology, these results identified four genes of the calcium signaling pathway that appeared to be altered in this rare cutaneous neoplasm commonly classified as a low-grade sweat gland carcinoma.

CACNA1S, ATP2A1, RYR1, and MYLK3 were upregulated in microcystic adnexal carcinoma at the RNA level and expressed higher in microcystic adnexal carcinoma than in normal sweat glands and histologic mimics of [this cancer] at the protein level,” mentioned the investigators. “They may be new diagnostic molecular markers and therapeutic targets for microcystic adnexal carcinoma.”

The study authors conducted transcriptome analysis on five normal and six microcystic adnexal carcinoma skin tissue samples. This evaluation identified genes that were differentially expressed, which was later confirmed via immunohistochemistry.

Using next-generation transcriptome sequencing, the investigators identified 304 differentially expressed genes as either upregulated (n = 225) or downregulated (n = 79) in microcystic adnexal carcinoma. All microcystic adnexal tumors demonstrated deep infiltration with poorly circumscribed cancer cells. Of particular interest, three cancer-related signaling pathways—cGMP-PKG, calcium, and JAK/STAT—were found to be enriched, suggesting they may play important roles in this disease. 

“To our knowledge, this is the first report of transcriptional analysis of microcystic adnexal carcinoma worldwide,” concluded the study authors. “Our data entirely illustrated changes in microcystic adnexal carcinoma at the RNA level, but proteomic studies are still needed to confirm our results. Transcriptome studies with more cases are also needed in the future.”

Disclosure: The study authors reported no conflicts of interest.

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