Effectiveness of digital PCR for MYD88L265P detection in vitreous fluid for primary central nervous system lymphoma diagnosis

Primary central nervous system lymphoma (PCNSL) is a rare type of primary extranodal lymphoma (PEL). MYD88L265P mutation has been observed in up to 75% of PCNSL cases, however, the validity and sensitivity of digital PCR in detecting this mutation remains to be elucidated. A total of 44 PCNSL patients, 15 diffuse large B-cell lymphoma not otherwise specified (DLBCL-NOS) patients and 13 other PEL patients were enrolled in the present study. The abilities of reverse transcription quantitative PCR (RT-qPCR) and droplet digital PCR (ddPCR) to detect the MYD88L265P mutation in cerebral spinal fluid (CSF) samples were compared. The results suggested that ddPCR showed superior mutation detection sensitivity when compared with RT-qPCR (58 vs. 15%; P<0.05). The MYD88L265P mutation was significantly associated with increased MYD88 protein overexpression in PCNSL brain tissue samples (P<0.05). Analysis of MYD88L265P mutation status in CSF and vitreous fluid samples using ddPCR may be a promising technique for minimally invasive confirmation of PCNSL diagnosis.