title: Melanoma arising in a nevus of Ito: novel genetic mutations and a review of the literature on cutaneous malignant transformation of dermal melanocytosis.
abstract: Dermal melanocytosis refers to a spectrum of benign melanocytic proliferations that includes Mongolian spot, nevus of Ota and nevus of Ito. These lesions most commonly occur in persons of Asian or African descent and are often present at birth or develop during childhood. Very rarely, dermal melanocytoses undergo malignant transformation. There have been only 13 reports in the literature of primary cutaneous melanoma arising in dermal melanocytoses. We report a case of a Chinese woman with melanoma arising in a congenital nevus of Ito. We performed targeted next-generation sequencing of the tumor which revealed mutations of GNAQ and BAP1, suggesting that alterations in these two genes led to malignant transformation of the nevus of Ito. We also provide a summary of reports in the literature regarding primary cutaneous melanoma arising in the context of dermal melanocytosis.
authors.affiliation: Department of Pathology, Massachusetts General Hospital, Boston, MA, USA.
authors.forename: Julie Y
authors.initials: JY
authors.lastname: Tse
authors.affiliation: Department of Dermatology, Brigham & Women's Hospital, Boston, MA, USA.
authors.forename: Brooke E
authors.initials: BE
authors.lastname: Walls
authors.affiliation: Department of Dermatology, Brigham & Women's Hospital, Boston, MA, USA.
authors.forename: Hyemin
authors.initials: H
authors.lastname: Pomerantz
authors.affiliation: Department of Surgery, Brigham & Women's Hospital, Boston, MA, USA.
authors.forename: Charles H
authors.initials: CH
authors.lastname: Yoon
authors.affiliation: Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.
authors.forename: Elizabeth I
authors.initials: EI
authors.lastname: Buchbinder
authors.affiliation: Department of Dermatology, Brigham & Women's Hospital, Boston, MA, USA.
authors.forename: Andrew E
authors.initials: AE
authors.lastname: Werchniak
authors.affiliation: Department of Pathology, Brigham & Women's Hospital, Boston, MA, USA.
authors.forename: Fei
authors.initials: F
authors.lastname: Dong
authors.affiliation: Department of Pathology, Brigham & Women's Hospital, Boston, MA, USA.
authors.forename: Christine G
authors.initials: CG
authors.lastname: Lian
authors.affiliation: Department of Pathology, Brigham & Women's Hospital, Boston, MA, USA.
authors.forename: Scott R
authors.initials: SR
authors.lastname: Granter
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002471:Cell Transformation, Neoplastic / Q000235:genetics*; D005260:Female; D043802:GTP-Binding Protein alpha Subunits, Gq-G11 / Q000235:genetics; D020022:Genetic Predisposition to Disease; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008297:Male; D008544:Melanocytes / Q000473:pathology; D008545:Melanoma / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D009154:Mutation; D009508:Nevus, Pigmented / Q000235:genetics* / Q000473:pathology; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology; D025521:Tumor Suppressor Proteins / Q000235:genetics; D043222:Ubiquitin Thiolesterase / Q000235:genetics; D055815:Young Adult; D000096142:Cutaneous Malignant Melanoma
chemical_list: C400134:BAP1 protein, human; C554061:GNAQ protein, human; D025521:Tumor Suppressor Proteins; D043222:Ubiquitin Thiolesterase; D043802:GTP-Binding Protein alpha Subunits, Gq-G11
keywords: congenital nevus cells; melanocytic lesions; melanoma; molecular pathology