Primary cutaneous SMARCB1-deficient carcinoma Journal Article
| Authors: | Hui, Y.; Cotzia, P.; Rana, S.; Kezlarian, B. E.; Lin, O.; Hollmann, T. J.; Dogan, S. |
| Article Title: | Primary cutaneous SMARCB1-deficient carcinoma |
| Abstract: | Background: SMARCB1-deficient malignancies can arise in various sites. We describe a novel primary SMARCB1-deficient carcinoma of skin (SDCS) and characterize SMARCB1 mutations in non-melanoma skin cancers (NMSC). Methods: Cases underwent immunophenotyping and targeted exome sequencing (MSK-IMPACT) assay interrogating somatic mutations in 468 cancer-related genes. The MSK-IMPACT database from 2014 to 2020 encompassing 55, 000 cases was searched for NMSC with SMARCB1 mutations. Results: SDCS arose on the scalp of an 18-year-old woman showing homozygous SMARCB1 deletion with a LATS2 G963E variant. Another case arose on the temple of a 76-year-old man harboring a SMARCB1 W206* mutation associated with loss of heterozygosity (LOH), 59 concurrent mutations, and a UV mutation signature (UV-MS). Both tumors exhibited INI1 loss, positive CK5/6, p40, p63, and claudin-4 with negative CD34. Of 378 NMSC cases, including 370 carcinomas, 7 SMARCB1-mutated tumors were identified: 3 squamous cell, 3 Merkel cell, and one basal cell carcinoma. Six showed UV-MS. Five INI1-interrogated cases retained protein expression suggesting they were SMARCB1-proficient. Conclusions: SDCS can be clinically aggressive, harbor SMARCB1 homozygous deletions or truncating SMARCB1 mutations associated with LOH, and can occur with or without UV-MS. Overall, SMARCB1 mutations in NMSC are rare with most being of undetermined significance and associated with retained INI1 and UV-MS. © 2021 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. |
| Keywords: | squamous cell carcinoma; epithelioid sarcoma; smarcb1; ini1; baf47 |
| Journal Title: | Journal of Cutaneous Pathology |
| Volume: | 48 |
| Issue: | 8 |
| ISSN: | 0303-6987 |
| Publisher: | John Wiley & Sons |
| Date Published: | 2021-08-01 |
| Start Page: | 1051 |
| End Page: | 1060 |
| Language: | English |
| DOI: | 10.1111/cup.13996 |
| PROVIDER: | scopus |
| PUBMED: | 33625734 |
| PMCID: | PMC9478883 |
| DOI/URL: | |
| Notes: | Article -- Export Date: 2 August 2021 -- Source: Scopus |
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