title: Two congenital cases of pigmented epithelioid melanocytoma studied by fluorescent in situ hybridization for melanocytic tumors: case reports and review of these recent topics.
abstract: The term 'pigmented epithelioid melanocytoma' (PEM) has recently been proposed as a nosological framework grouping lesions formerly known as animal-type melanomas, sporadic epithelioid blue nevi and Carney complex-associated epithelioid blue nevi. Congenital PEMs have been reported extremely rarely and their prognosis is poorly known. Four-color fluorescent in situ hybridization (FISH) for melanocytic lesions is a recent method developed to assess the malignant potential of ambiguous melanocytic lesions. Here we describe 2 cases of congenital epithelioid and strongly pigmented melanocytic lesions consistent with PEM. No BRAF gene mutation was found in the 2 cases. FISH for melanocytic lesions was also performed. The first case proved entirely negative, whereas the second one showed a positive zone with an extra copy of chromosome 6. The prognosis and management of PEM are discussed, with a review of the available data on the history, demographics, molecular alterations and histopathological aspects of this entity. PEM seems to represent a unique low-grade melanocytic tumor with a limited potential of metastasis to lymph nodes, but a favorable long-term clinical course. The published data about FISH for melanocytic tumors, and especially PEM, are reviewed. Four-color FISH may be a useful tool to assess more accurately the prognosis of these tumors.
authors.affiliation: Dermatology, Robert-Debré Hospital, APHP, Paris V - Descartes University, France.
authors.forename: M
authors.initials: M
authors.lastname: Battistella
authors.forename: M
authors.initials: M
authors.lastname: Prochazkova-Carlotti
authors.forename: D
authors.initials: D
authors.lastname: Berrebi
authors.forename: S
authors.initials: S
authors.lastname: Bennaceur
authors.forename: C
authors.initials: C
authors.lastname: Edan
authors.forename: L
authors.initials: L
authors.lastname: Riffaud
authors.forename: A
authors.initials: A
authors.lastname: Rütten
authors.forename: S
authors.initials: S
authors.lastname: Fraitag
mesh_terms: D015703:Antigens, CD / Q000032:analysis; D015214:Antigens, Differentiation, Myelomonocytic / Q000032:analysis; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008198:Lymph Nodes / Q000473:pathology; D008297:Male; D008545:Melanoma / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D018329:Nevus, Blue / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D010858:Pigmentation / Q000235:genetics; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics; D012878:Skin Neoplasms / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D014314:Trisomy; D000097382:CD68 Molecule
chemical_list: D015703:Antigens, CD; D015214:Antigens, Differentiation, Myelomonocytic; D048493:Proto-Oncogene Proteins B-raf; C067980:CD68 antigen, human; D000097382:CD68 Molecule; C482119:BRAF protein, human