Leptomeningeal dissemination as a first sign of progression in metastatic melanoma: a diagnostic lesson

xlomafota13 shared this article with you from Inoreader Leptomeningeal dissemination as a first sign of progression in metastatic melanoma: a diagnostic lesson Via Melanoma Research - Published Ahead-of-Print One of the most serious complications of advanced melanoma is the diffusion of cancer cells to the central nervous system. The diagnosis of leptomeningeal metastasis (LMM) is notoriously challenging and requires a combination of consistent MRI and cerebrospinal fluid (CSF) cytology. In ambiguous cases, mutations like B RAF V600E in CSF-cell-free (cf)DNA may help to clarify diagnosis of LMM. Here we present the case of a young woman who developed isolated LMM after the diagnosis of a node-positive primary melanoma with normal LDH. The CSF was negative for tumour cells by cytology but positive for cfDNA BRAF V600E mutation, thus allowing us to diagnose LMM. To our knowledge, this is the first case where CSF sampling for the detection of BRAF mutation was used to identify leptomeningeal disease in the presence of negative MRI and without involvement of any other distant sites. Received 26 October 2020 Accepted 12 September 2021 Correspondence to Michele Parietti, Dermatology Clinic, Department of Medical Sciences, University of Turin, Via Cherasco 23, 10126, Turin, Italy, Tel: +39 011 6335843; fax: +39 011 6335034; e-mail: pariettimichele@gmail.com Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.