title: Histopathologic and mutational analysis of a case of blue nevus-like melanoma.
abstract: Blue nevi are a heterogeneous group of dermal melanocytic proliferations that share a common clinical appearance but remain controversial in their histopathologic and biologic distinction. While common blue nevi and cellular blue nevi are well-defined entities that are classified without significant controversy, the distinction between atypical cellular blue nevi and blue nevus-like melanoma remains diagnostically challenging. We report a case of a 46-year-old female with recurrent blue nevus-like melanoma of the scalp with liver metastases; mutational analysis showed GNA11 Q209L and BAP1 Q393 mutations. To our knowledge, this is the first case of blue nevus-like melanoma with GNA11 and BAP1 mutations. These particular mutations and the predilection for liver metastases in our patient's case underscore a fundamental biological relationship between blue nevi and uveal melanoma and suggest the two entities may prove amenable to similar diagnostic and prognostic testing and targeted therapies.
authors.affiliation: Department of Medicine, Mount Sinai Hospital, New York, NY, USA.
authors.forename: Julia
authors.initials: J
authors.lastname: Dai
authors.affiliation: Department of Pathology, Section of Dermatopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
authors.forename: Michael T
authors.initials: MT
authors.lastname: Tetzlaff
authors.affiliation: Department of Medicine, Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA, USA.
authors.forename: Lynn M
authors.initials: LM
authors.lastname: Schuchter
authors.affiliation: Department of Pathology, University of Pennsylvania, Philadelphia, PA, USA.
authors.forename: David E
authors.initials: DE
authors.lastname: Elder
authors.affiliation: Department of Dermatology, University of Pennsylvania, Philadelphia, PA, USA.
authors.forename: Rosalie
authors.initials: R
authors.lastname: Elenitsas
mesh_terms: D004252:DNA Mutational Analysis; D005260:Female; D044385:GTP-Binding Protein alpha Subunits / Q000235:genetics*; D006801:Humans; D008113:Liver Neoplasms / Q000556:secondary; D008545:Melanoma / Q000235:genetics / Q000473:pathology*; D008875:Middle Aged; D009154:Mutation; D009364:Neoplasm Recurrence, Local / Q000235:genetics / Q000473:pathology; D018329:Nevus, Blue / Q000235:genetics / Q000473:pathology*; D012878:Skin Neoplasms / Q000235:genetics / Q000473:pathology*; D025521:Tumor Suppressor Proteins / Q000235:genetics; D043222:Ubiquitin Thiolesterase / Q000235:genetics
chemical_list: C400134:BAP1 protein, human; C554062:GNA11 protein, human; D044385:GTP-Binding Protein alpha Subunits; D025521:Tumor Suppressor Proteins; D043222:Ubiquitin Thiolesterase
keywords: BAP1; GNA11; GNAQ; blue nevus; melanoma