Liquid Biopsy with Detection of NRAS<sup>Q61K</sup> Mutation in Cerebrospinal Fluid: An Alternative Tool for the Diagnosis of Primary Pediatric Leptomeningeal Melanoma
Angela Mastronuzzi,
Francesco Fabozzi,
Martina Rinelli,
Rita De Vito,
Emanuele Agolini,
Giovanna Stefania Colafati,
Antonella Cacchione,
Andrea Carai,
Maria Antonietta De Ioris
Affiliations
Angela Mastronuzzi
Department of Hematology/Oncology, Cell and Gene Therapy, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, Italy
Francesco Fabozzi
Department of Hematology/Oncology, Cell and Gene Therapy, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, Italy
Martina Rinelli
Laboratory of Medical Genetics, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, Italy
Rita De Vito
Department of Pathology, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, Italy
Emanuele Agolini
Laboratory of Medical Genetics, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, Italy
Primary leptomeningeal melanoma (PLMM) is a very rare disease in childhood with a poor prognosis. NRASQ16K mutation frequently drives malignant transformation in this population, so its evaluation should be considered in childhood PLMM diagnosis. In the presented case, the mutation was detected by Sanger sequencing performed on DNA extracted from cerebrospinal fluid neoplastic cells. Liquid biopsy has been shown to be a safe and reliable technique for the diagnosis of PLMM. Its use can potentially be extended to other neoplasms of the central nervous system bearing well-defined molecular mutations, sparing the patient invasive surgery and finally allowing a more rapid diagnosis and early initiation of targeted therapies.
