Implementation of cell‑free tumor DNA sequencing from the cerebrospinal fluid to guide treatment in a patient with primary leptomeningeal melanoma: A case report

Melms,Johannes  C.; Ho,Ka‑Wai; Thummalapalli,Rohit; Tyler,Janice; Brinker,Titus  Josef; Singh,Veena; Sengupta,Soma; Mier,James; Izar,Benjamin

doi:10.3892/mco.2018.1621

Implementation of cell‑free tumor DNA sequencing from the cerebrospinal fluid to guide treatment in a patient with primary leptomeningeal melanoma: A case report

Authors:
- Johannes C. Melms
- Ka‑Wai Ho
- Rohit Thummalapalli
- Janice Tyler
- Titus Josef Brinker
- Veena Singh
- Soma Sengupta
- James Mier
- Benjamin Izar
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Affiliations: Division of Hematology and Oncology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02215, USA, Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02215, USA, Department of Medical Oncology, Dana‑Farber Cancer Institute, Boston, MA 02215, USA, Department of Pathology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02215, USA, Department of Dermatology and National Center for Tumor Diseases, University Hospital Heidelberg, University of Heidelberg, Heidelberg D‑69120, Germany, BioCept Inc., San Diego, CA 92121, USA
Published online on: May 9, 2018 https://doi.org/10.3892/mco.2018.1621
Pages: 58-61

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Abstract

Primary leptomeningeal melanoma (PLM) is a rare type of cancer that represents a major clinical and molecular diagnostic challenge. A definitive diagnosis requires consistent magnetic resonance imaging findings and cerebrospinal fluid (CSF) cytology. Due to the small number of malignant cells in the CSF, routine testing for mutations in the BRAF gene is difficult, which prevents the stratification of these patients to potentially beneficial therapies. We herein present the case of a 62‑year old man with CSF cytology indicating PLM, where BRAF mutation testing, from cell‑free (cf) tumor DNA isolated from the CSF and plasma was implemented to guide clinical decision making. Testing for BRAFV600E mutation from the CSF and plasma was technically feasible, yielded concordant results, and guided the treatment for this patient. This case suggests that mutation testing of cfDNA isolated from the CSF is technically feasible and may guide therapy in cases where a tissue diagnosis is not possible for PLM and other malignancies with defined oncogenic driver mutations.

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