Microcystic Adnexal Carcinoma-like Neoplasm in a Patient With POT1 Mutation
Margaux P Games1, Laurel Schwartz1, Jules B Lipoff1
1Margaux P. Games is from Drexel University College of Medicine, Philadelphia, Pennsylvania. Dr. Schwartz is from Advanced Dermatology and Cosmetic Surgery, Fort Washington, Pennsylvania. Dr. Lipoff is from the Department of Dermatology, Lewis Katz School of Medicine, Temple University, Philadelphia.
Cutis
|July 7, 2026
Summary
A POT1 gene mutation was identified in a patient with multiple skin cancers, including microcystic adnexal carcinoma. This finding suggests a potential link between POT1 mutations and susceptibility to various skin cancers beyond melanoma.
Area of Science:
- Oncology
- Genetics
- Dermatology
Background:
- A 72-year-old man with a history of melanoma, squamous cell carcinoma (SCC), and basal cell carcinoma (BCC) presented for a skin examination.
- Genetic testing revealed a mutation in the POT1 (protection of telomeres 1) gene.
Related Concept Videos
Abnormal Proliferation
Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the daughter...
Tumor Progression
Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
Cancers Originate from Somatic Mutations in a Single Cell
Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...

