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Updated: Nov 16, 2025

Cell Population Analyses During Skin Carcinogenesis

Cell Population Analyses During Skin Carcinogenesis

Published on: August 21, 2013

Primary cutaneous SMARCB1-deficient carcinoma.

Yiang Hui¹, Paolo Cotzia¹, Satshil Rana¹

¹Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York, USA.

Journal of Cutaneous Pathology

|February 24, 2021

Summary

We identified a novel skin cancer linked to SMARCB1 mutations. These rare SMARCB1-deficient skin cancers can be aggressive and may show specific genetic alterations, including UV-induced mutations.

Keywords:

BAF47 INI1 SMARCB1 epithelioid sarcoma squamous cell carcinoma

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Area of Science:

Oncology
Genetics
Dermatology

Background:

SMARCB1-deficient malignancies are rare and can occur in various body sites.
This study focuses on characterizing SMARCB1 mutations in non-melanoma skin cancers (NMSC), including a novel primary SMARCB1-deficient carcinoma of skin (SDCS).

Observation:

Two cases of SDCS were identified: one in an 18-year-old female with homozygous SMARCB1 deletion and another in a 76-year-old male with a SMARCB1 truncating mutation, loss of heterozygosity (LOH), and a UV mutation signature (UV-MS).
Both tumors showed characteristic immunophenotypes (INI1 loss, positive CK5/6, p40, p63, claudin-4; negative CD34).

Findings:

A search of 55,000 cases identified 7 NMSC with SMARCB1 mutations (3 squamous cell, 3 Merkel cell, 1 basal cell carcinoma), with most exhibiting UV-MS.
Five cases retained INI1 protein expression, indicating they were SMARCB1-proficient.
SDCS can be clinically aggressive, featuring homozygous SMARCB1 deletions or truncating mutations with LOH, and may or may not present with UV-MS.

Implications:

SMARCB1 mutations in NMSC are rare, often of undetermined significance, and typically associated with retained INI1 expression and UV-MS.
The identification of SDCS expands the spectrum of SMARCB1-deficient tumors and highlights the potential clinical aggressiveness of these rare skin cancers.