BAP1-related tumor predisposition syndrome
Synonyms: Tumor susceptibility linked to germline BAP1 mutations
BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma malignant mesothelioma renal cell carcinoma lung ovarian pancreatic breast cancer and meningioma with variable age of onset. Common cutaneous manifestations include malignant melanoma basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated well-circumscribed papules with an average size of 5 mm histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm prominent nucleoli and large vesicular nuclei that vary substantially in size and shape.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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