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BAP1: case report and insight into a novel tumor suppressor
Kanad Ghosh1, Badri Modi2, William D James2
1Penn Epigenetics Institute, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, 19104, USA.
BMC Dermatology
|November 24, 2017
Summary
Sporadic BAP1-deficient tumors, or BAPomas, can present with benign skin lesions. This case highlights the importance of recognizing these rare neoplasms, which may be overlooked due to their subtle clinical appearance.
Area of Science:
- Oncology
- Dermatopathology
- Cancer Genetics
Background:
- BRCA1-Associated-Protein 1 (BAP1) is a tumor suppressor gene.
- Mutations in BAP1 are linked to increased cancer risk, including melanoma and mesothelioma.
- While germline BAP1 mutations are studied, sporadic BAP1-deficient tumors are less understood.
Observation:
- A 49-year-old female presented with an asymptomatic, dome-shaped pink papule on her foot.
- Biopsy revealed a tumor deficient in the BAP1 tumor suppressor.
- Germline genetic testing was negative, indicating a sporadic mutation.
Findings:
- The tumor, a sporadic BAPoma, was successfully excised via Mohs surgery.
- Histopathological features of BAPomas are crucial for diagnosis.
- Understanding BAP1's molecular function is key to its role in tumorigenesis.
Implications:
- Sporadic BAPomas may be clinically misdiagnosed due to their common appearance.
- Increased awareness among clinicians and dermatologists is necessary for early detection.
- Further research into BAP1-deficient neoplasms can improve diagnostic and therapeutic strategies.
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