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Combined BAP1-Inactivated Nevus

MedGen UID:
1719884
•Concept ID:
C5237243
•
Neoplastic Process
Synonyms: Combined BAP1-inactivated melanocytoma; Combined BAP1-inactivated nevus; Wiesner Nevus
SNOMED CT: Combined BAP1-inactivated melanocytoma (1290657001); Combined BAP1-inactivated nevus (1290657001)

Definition

A combined nevus with a spitzoid component and inactivation of BAP1. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCombined BAP1-Inactivated Nevus

Recent clinical studies

Etiology

Novel insights into the BAP1-inactivated melanocytic tumor.
Donati M, Martinek P, Steiner P, Grossmann P, Vanecek T, Kastnerova L, Kolm I, Baneckova M, Donati P, Kletskaya I, Kalmykova A, Feit J, Blasch P, Szilagyi D, Baldi A, Persichetti P, Crescenzi A, Michal M, Kazakov DV
Mod Pathol 2022 May;35(5):664-675. Epub 2021 Dec 2 doi: 10.1038/s41379-021-00976-7. PMID: 34857909
BAP1-inactivated melanocytic tumour with borderline histopathological features (BAP1-inactivated melanocytoma): A case report and a reappraisal.
Ferrara G, Mariani MP, Auriemma M
Australas J Dermatol 2021 Feb;62(1):e88-e91. Epub 2020 Jul 20 doi: 10.1111/ajd.13408. PMID: 33107024
RAF1 Gene Fusions as a Possible Driver Mechanism in Rare BAP1-Inactivated Melanocytic Tumors: A Report of 2 Cases.
Donati M, Martinek P, Kastnerova L, Persichetti P, Michal M, Kazakov DV
Am J Dermatopathol 2020 Dec;42(12):961-966. doi: 10.1097/DAD.0000000000001740. PMID: 32769548

Diagnosis

A case of molecularly confirmed BAP1 inactivated melanocytic tumor with retention of immunohistochemical expression: A confounding factor.
Linos K, Atkinson AE, Yan S, Tsongalis GJ, Lefferts JA
J Cutan Pathol 2020 May;47(5):485-489. Epub 2020 Jan 23 doi: 10.1111/cup.13642. PMID: 31891422Free PMC Article

Clinical prediction guides

Novel insights into the BAP1-inactivated melanocytic tumor.
Donati M, Martinek P, Steiner P, Grossmann P, Vanecek T, Kastnerova L, Kolm I, Baneckova M, Donati P, Kletskaya I, Kalmykova A, Feit J, Blasch P, Szilagyi D, Baldi A, Persichetti P, Crescenzi A, Michal M, Kazakov DV
Mod Pathol 2022 May;35(5):664-675. Epub 2021 Dec 2 doi: 10.1038/s41379-021-00976-7. PMID: 34857909
A case of molecularly confirmed BAP1 inactivated melanocytic tumor with retention of immunohistochemical expression: A confounding factor.
Linos K, Atkinson AE, Yan S, Tsongalis GJ, Lefferts JA
J Cutan Pathol 2020 May;47(5):485-489. Epub 2020 Jan 23 doi: 10.1111/cup.13642. PMID: 31891422Free PMC Article

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