Vulvar Pigmented Epithelioid Melanocytoma With a Novel HTT-PKN1 Fusion: A Case Report. (July 2020)

• Record Type: Journal Article
• Authors: Donati, Michele; Kastnerova, Liubov; Cempírková, Dana; Vaněček, Tomáš; Michal, Michal; Kazakov, Dmitry V.
• Is Part Of: American journal of dermatopathology. Volume 42:Number 7(2020)
• Publication Date: 2020-07
• Subjects: melanoma -- vulva -- melanocytoma -- fusion -- animal-type melanoma; Skin -- Diseases -- Periodicals; Histology, Pathological -- Periodicals; 616.50705
• DOI: 10.1097/DAD.0000000000001600
• Languages: English
• ISSNs: 0193-1091

Abstract

Abstract : Abstract: Pigmented epithelioid melanocytoma is a highly pigmented, predominantly dermal melanocytic neoplasm composed by epithelioid and spindled melanocytes. It is characterized by a limited number of specific genomic alterations principally involving protein kinase A regulatory subunit alpha ( PRKAR1A ) and fusion of protein kinase C alpha isoform ( PRKCA ). However, in some of these neoplasms, no genetic aberrations have been detected. We performed genomic analysis of a nodular heavily pigmented intradermal proliferation composed of monomorphic epithelioid melanocytes with slight cytologic atypia consisting with pigmented epithelioid melanocytoma occurring on the vulva of a 24-year-old woman. A novel fusion transcript HTT-PKN1 and an ATM (Val410Ala) missense mutation were found. No other mutations including TERT- promoter hotspot mutation analysis were detected. The data expand the spectrum of molecular alterations in pigmented epithelioid melanocytoma.