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

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...

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Main Authors: Melms, Johannes C. (Author) , Ho, Ka-Wai (Author) , Thummalapalli, Rohit (Author) , Tyler, Janice (Author) , Brinker, Titus Josef (Author) , Singh, Veena (Author) , Sengupta, Soma (Author) , Mier, James (Author) , Izar, Benjamin (Author)
Format: Article (Journal)
Language:English
Published: May 9, 2018
In: Molecular and clinical oncology
Year: 2018, Volume: 9, Issue: 1, Pages: 58-61
ISSN:2049-9469
DOI:10.3892/mco.2018.1621
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.3892/mco.2018.1621
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Author Notes: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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Summary: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.
Item Description:Gesehen am 26.03.2020
Physical Description:Online Resource
ISSN:2049-9469
DOI:10.3892/mco.2018.1621

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