NF1 Mutations Are Common in Desmoplastic Melanoma. (October 2015)

• Record Type: Journal Article
• Authors: Wiesner, Thomas; Kiuru, Maija; Scott, Sasinya N.; Arcila, Maria; Halpern, Allan C.; Hollmann, Travis; Berger, Michael F.; Busam, Klaus J.
• Is Part Of: American journal of surgical pathology. Volume 39:Number 10(2015)
• Publication Date: 2015-10
• Subjects: Pathology, Surgical -- Periodicals; 617.0705
• DOI: 10.1097/PAS.0000000000000451
• Languages: English
• ISSNs: 0147-5185

Abstract

<abstract> <title> <x xml:space="preserve">Abstract</x> </title> <sec> <p>Desmoplastic melanoma (DM) is a rare variant of melanoma with distinct clinical, histopathologic, and immunohistochemical features. Clinically, DM differs from conventional melanoma by a higher propensity for local recurrence and less frequent metastatic spread to regional lymph nodes. In its pure form, DM has a distinct appearance displaying a low density of fusiform melanocytes in a collagen-rich matrix. Whereas a number of mutations have been identified in primary melanoma, including <italic>BRAF</italic>, <italic>NRAS</italic>, <italic>GNAQ</italic>, <italic>GNA11</italic>, and <italic>KIT</italic>, and the occurrence of these mutations has been found to correlate to some extent with the histopathologic features, anatomic site, and/or mode of sun exposure, no distinct set of mutations has so far been reported for DM. To study the potential association of neurofibromin (<italic>NF1</italic>) mutations with DM, we examined 15 desmoplastic and 20 non-DMs by next-generation sequencing. Mutations of the <italic>NF1</italic> gene were found in 14 of 15 (93%) DMs and 4 of 20 (20%) non-DMs. The high frequency of <italic>NF1</italic> mutations in DMs suggests an important role for NF1 in the biology of this type of melanoma.</p> </sec> </abstract>