The morphologic spectrum of germline‐mutated BAP1‐inactivated melanocytic tumors includes lesions with conventional nevic melanocytes: A case report and review of literature

Germline 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‐deficient large epithelioid and rhabdoid melanocytes showing vari...

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Veröffentlicht in:	Journal of cutaneous pathology 2019-11, Vol.46 (11), p.852-857
Hauptverfasser:	Wysozan, Timothy R., Khelifa, Sihem, Turchan, Kirsten, Alomari, Ahmed K.
Format:	Artikel
Sprache:	eng
Schlagworte:	BAP1‐inactivated tumors (BIMTs) BRCA1 associated protein 1 (BAP1) BRCA1 protein Case reports Cell proliferation Child Female Frameshift mutation Germ-Line Mutation Humans Lesions Melanocytes Melanocytes - metabolism Melanocytes - pathology melanocytic Mutation Neoplastic Syndromes, Hereditary - genetics Neoplastic Syndromes, Hereditary - metabolism Neoplastic Syndromes, Hereditary - pathology Nevus, Epithelioid and Spindle Cell - genetics Nevus, Epithelioid and Spindle Cell - metabolism Nevus, Epithelioid and Spindle Cell - pathology Skin Neoplasms - genetics Skin Neoplasms - metabolism Skin Neoplasms - pathology Spitz Tumor Suppressor Proteins - genetics Tumor Suppressor Proteins - metabolism Tumors Ubiquitin Thiolesterase - genetics Ubiquitin Thiolesterase - metabolism
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