Stage IV SMARCA4-Deficient Undifferentiated Malignant Neoplasm With Primary Cutaneous Origin and Early Distant

Katlyn M Smaha1, Matthew Willett2, David E Kent3,4

  • 1Medical College of Georgia at Augusta University, Augusta, Georgia, USA, augusta.edu.

Insights

We report a rare case of SMARCA4-deficient undifferentiated malignant neoplasms (SD-UMNs), a skin cancer. This advanced-stage cancer presented with widespread metastasis, highlighting the need for early recognition and targeted therapies.

Area of Science:

  • Oncology
  • Genetics
  • Dermatology

Background:

  • SMARCA4-deficient undifferentiated malignant neoplasms (SD-UMNs) are rare epithelioid tumors linked to SWI/SNF chromatin remodeling complex mutations.
  • Primary cutaneous SD-UMNs are exceptionally rare, with only three previously reported cases.

Purpose of the Study:

  • To report a rare case of primary cutaneous SD-UMN.
  • To emphasize the importance of recognizing SD-UMNs due to their aggressive nature and potential for targeted therapies.

Main Methods:

  • Case report of an 85-year-old male with a history of smoking.
  • Clinical presentation, histopathological features, and staging of the malignancy were analyzed.

Main Results:

  • The patient presented with Stage IV disease, including metastatic involvement of lymph nodes and liver.
  • This case represents a rare instance of primary cutaneous SD-UMN with advanced metastatic spread.

Conclusions:

  • Accurate diagnosis of SD-UMNs is crucial for appropriate management of poorly differentiated cutaneous epithelioid neoplasms.
  • This case expands the limited understanding of SD-UMNs' clinical and histopathological characteristics.

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