BAP1-inactivated melanocytic tumors represent a subset of epithelioid melanocytic neoplasms resulting from biallelic inactivation of the BAP1 gene and by a driver mutation that activate the MAP kinase pathway, most commonly BRAF(V600E). They occur sporadically or, less common, in the setting of ...
Recent findings indicate that germline BAP1 mutations cause a novel cancer syndrome that is characterized, at least in the affected families that have been studied so far, by the onset at an early age of benign melanocytic skin tumours with mutated BAP1, and later in life by a high ...
Thomas Wiesner and colleagues report that germline mutations in BAP1 predispose to melanocytic tumors ranging histopathologically from epithelioid nevi to atypical melanocytic proliferations. Some BAP1 mutation carriers also developed uveal or cutaneous
melanocyticBRCA1 associated protein 1 (BAP1)melanocyticSpitzGermline mutations in BRCA1‐associated protein 1 (BAP1) are associated with several neoplasms, including BAP1‐inactivated melanocytic tumors (BIMTs). BIMTs are classically described as biphenotypic melanocytic proliferations with BAP1‐...
BAP1 germline PVs, also called the BAP1 tumor predisposition syndrome (TPDS), has been defined to include the core tumors cutaneous melanoma (CM), UM, RCC, pleural and peritoneal mesothelioma, meningioma, basal cell carcinoma (BCC), and BAP1-inactivated melanocytic tumor (BIMT) [11,15-17]....
BAP1 tumor predisposition syndrome case report: pathological and clinical aspects of BAP1-inactivated melanocytic tumors (BIMTs), including dermoscopy and confocal microscopyBIMTBAP1Hereditary cancer syndromesDermoscopyConfocal microscopyPedigree and sequencing. Family tree of the index case. The proband (...
BAP1‐inactivated melanocytic tumor (BIMT)deep penetrating nevus (DPN)PRAMEin a 60-year-old Chinese man with neoplastic basaloid lobules in which sebaceous cells and apocrine differentiation was observed, but intraepidermal apocrine differentiation was not noted. In addition to SCP, other apocrine ...
BAP1 inactivated melanocytic nevusgenetic diseases/mechanismsglomus juglare tumormelanomanevi‐melanocyticparagangliomaBRCA 1‐associated protein 1( BAP 1) inactivated melanocytic nevi are pink to tan and dome‐shaped in clinical appearance, resembling dermal nevi, but with distinct histologic features of ...
The deubiquitinating enzyme BAP1 is an important tumor suppressor that has drawn attention in the clinic since its loss leads to a variety of cancers. BAP1 is activated by ASXL1 to deubiquitinate mono-ubiquitinated H2A at K119 in Polycomb gene repression
BAP-1 (BRCA1-associated protein 1) inactivated melanocytic lesions are a group of familial or sporadic lesions with unique histology and molecular features. They are of great clinical interest, at least in part due to the potential for malignant transformation and association with a familial cancer...