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Published on: February 22, 2019
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.
Abstract:
SMARCA4-deficient undifferentiated malignant neoplasms (SD-UMNs) are a recently recognized group of malignant epithelioid tumors, associated with mutations in the SWItch/Sucrose nonfermentable chromatin remodeling complex. To our knowledge, there have been only three cases of SD-UMNs primary to the skin. We report a rare case of primary cutaneous SD-UMN in an 85-year-old male with a former 25-pack-year smoking history. Unlike previous cases, he notably was diagnosed as Stage IV upon presentation, with metastatic involvement of lymph nodes and liver. Our case highlights the importance of recognizing SD-UMN from other types of poorly differentiated cutaneous epithelioid malignant neoplasms, given its aggressive nature and potential for targeted therapies. It also adds to the growing but still limited understanding of the clinical and histopathological features of this rare malignancy.
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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