BAP1-related tumor predisposition syndrome
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.
MONDO:0015356
hereditary neoplastic syndrome
is_a
BAP1 tumor predisposition syndrome
related
BAP1 tumour predisposition syndrome
related
BAP1-related tumor predisposition syndrome
exact
TPDS
related
tumor predisposition syndrome
related
tumor susceptibility linked to germline BAP1 mutations
exact
tumour predisposition syndrome
related
tumour susceptibility linked to germline BAP1 mutations
exact