Tumor cell-free DNA detection in CSF for primary CNS lymphoma diagnosis

V. Rimelen†Email author View ORCID ID profile,
G. Ahle†,
E. Pencreach,
N. Zinniger,
A. Debliquis,
L. Zalmaï,
I. Harzallah,
R. Hurstel,
I. Alamome,
F. Lamy,
J. Voirin† and
B. Drénou

†Contributed equally

Acta Neuropathologica Communications20197:43

https://doi.org/10.1186/s40478-019-0692-8

Received: 22 January 2019
Accepted: 28 February 2019
Published: 18 March 2019

To the editor,

Primary central nervous system lymphoma (PCNSL) is a rare disease accounting for around 3% of primary CNS tumors. Its diagnosis is usually based on cranial MRI and brain biopsy (including immunophenotyping for faster diagnostic confirmation [4]). The identification of lymphoma cells in the cerebrospinal fluid (CSF) or vitreous fluid by cytology (generally associated with flow cytometry) in association with typical neuroimaging allow faster and less invasive diagnosis. PCNSL characterization, frequently leads to diagnosis of diffuse large B-cell lymphoma (DLBCL), belonging to the ABC subgroup [3]. Moreover, MYD88 mutations are detectable in 58 to 76% of PCNSL cases, in about 30% of ABC DLBCL patients, and in the majority of lymphoplasmacytic lymphoma cases [6, 7, 11, 13]. Since this mutation is not described in glioblastoma or in other solid metastatic tumors, its detection in the cerebrospinal fluid (CSF) [10] could be helpful for PCNSL diagnosis without invasive surgical biopsies, such as IL10 concentration [12] and microRNA profiling [1]. The MYD88 L265P mutation detection in cell DNA from vitreous aspirates [2] and CSF [10] was reported to improve the PCNSL diagnosis. The aim of our study was to evaluate the contribution of cell-free (cf) DNA from the CSF with a valuable molecular tool detecting the tumor-specific mutation MYD88L265P, using ddPCR in known MYD88L265P PCNSL.