Diagnosing a Primary Leptomeningeal Melanoma by Gene Mutation Signature Johannes van de Nes, Karsten Wrede, Adrian Ringelstein, Mathias Stiller, Susanne.

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Diagnosing a Primary Leptomeningeal Melanoma by Gene Mutation Signature Johannes van de Nes, Karsten Wrede, Adrian Ringelstein, Mathias Stiller, Susanne Horn, Antje Sucker, Inga Möller, Simone L. Scholz, Rajmohan Murali, Marco Gessi, Dirk Schadendorf, Klaus G. Griewank Journal of Investigative Dermatology Volume 136, Issue 7, Pages 1526-1528 (July 2016) DOI: 10.1016/j.jid.2016.03.031 Copyright © 2016 The Authors Terms and Conditions

Figure 1 Primary leptomeningeal melanoma. (a) A sagittal T1-weighted magnetic resonance image of the cervical spine. At the C6 and C7 region, an intramedullary contrast enhancing tumor is seen (highlighted by the arrow). (b) Histological hematoxylin and eosin (H&E) images of the tumor showing morphologic atypia with melanin pigment (H&E1 original magnification = ×400), an area of necrosis (H&E2 original magnification = ×400), and mitoses (indicated by arrows; H&E3 original magnification = ×1,000). Immunohistochemical results show an increased proliferation rate (Ki67 staining original magnification = ×200) and expression of the markers melan-A and BAP1 (original magnification = ×200). Each scale bar represents 50 μm. (c) The corresponding sequencing results showing the GNAQ R183Q, c.548G>A mutation (left) and the SF3B1 R625H, c.1874G>A mutation (right). Annotation is according to human genome assembly 19. Chr, chromosome; H&E, hematoxylin and eosin; hg19, human genome assembly 19. Journal of Investigative Dermatology 2016 136, 1526-1528DOI: (10.1016/j.jid.2016.03.031) Copyright © 2016 The Authors Terms and Conditions