Primary Cutaneous SMARCA4-Deficient Tumor With Metastases

Supriya Pradhan; Martha Lehman; Abdul Mohd Tahir; Michael Su; Steven Kossard; Renukadas Sakalkale

doi:10.1111/cup.14828

Primary Cutaneous SMARCA4-Deficient Tumor With Metastases

J Cutan Pathol. 2025 Aug;52(8):533-538. doi: 10.1111/cup.14828. Epub 2025 Jun 4.

Authors

Supriya Pradhan¹, Martha Lehman², Abdul Mohd Tahir³, Michael Su⁴, Steven Kossard², Renukadas Sakalkale¹

Affiliations

¹ Departments of Anatomical Pathology, New South Wales Health Pathology, Coffs Harbour, Australia.
² Laverty Pathology, Sydney, Australia.
³ Oncology Mid-North Coast Cancer Centre, Coffs Harbour, Australia.
⁴ General Surgery Mid-North Coast Coffs Harbour Base Hospital, Coffs Harbour, Australia.

PMID: 40464459
DOI: 10.1111/cup.14828

Abstract

SMARCA-4 deficient cutaneous tumor is extremely uncommon. These are aggressive tumors to begin with, and should be recognised at the outset from their extremely high-grade morphology and absence or extreme paucity of not only usual carcinoma markers but also complete absence of SMARCA-4, which should be performed. We present such a case with extensive metastases, notable for relatively quite small size of primary skin lesion. The case must be evaluated in full to rule out systemic including thoraco-visceral disease.

Keywords: SMARCA4; SMARCA4‐deficient undifferentiated malignant neoplasm; metastases; skin tumor; undifferentiated skin tumor.

Publication types

Case Reports

MeSH terms

DNA Helicases* / deficiency
DNA Helicases* / genetics
DNA Helicases* / metabolism
Humans
Nuclear Proteins* / deficiency
Nuclear Proteins* / genetics
Nuclear Proteins* / metabolism
Skin Neoplasms* / diagnosis
Skin Neoplasms* / genetics
Skin Neoplasms* / metabolism
Skin Neoplasms* / pathology
Transcription Factors* / deficiency
Transcription Factors* / genetics
Transcription Factors* / metabolism

Substances

DNA Helicases
Nuclear Proteins
SMARCA4 protein, human
Transcription Factors