Abstract
Bing-Neel syndrome (BNS) is a rare neurologic complication of lymphoplasmacytic lymphoma (LPL) characterized by direct infiltration of lymphoplasmacytic cells (LPCs). Although no standard treatment has yet been established, patients with BNS harboring the MYD88 L265P mutation have been reported to respond favorably to ibrutinib, which can cross the blood-brain barrier and trigger apoptosis of MYD88 L265P-positive LPCs. However, it is still unclear whether monitoring of MYD88 L265P mutation status would be useful for predicting relapse/progression or for assisting diagnosis and evaluating response to chemotherapy. Here, we report the case of a patient with BNS receiving ibrutinib in whom we detected relapse early by monitoring for molecular residual disease (MRD) based on the presence of the MYD88 L265P mutation in cerebrospinal fluid (CSF) on droplet digital polymerase chain reaction assay. Persistent MRD increased 2 weeks before the onset of relapse symptoms without any abnormal imaging findings or evidence of clonal LPCs on CSF cytology, flow cytometry analysis, or immunofixation electrophoresis. Our findings suggest that an increase in MRD levels is correlated with relapse in patients with BNS.
References
Mar 25, 2014·Blood·Sarah E M HermanAdrian Wiestner
Aug 28, 2014·British Journal of Haematology·Stéphanie PoulainXavier Leleu
May 16, 2015·Blood Cancer Journal·T NagaoO Miura
Dec 27, 2015·Clinical Lymphoma, Myeloma & Leukemia·Anna Maria FrustaciAlessandra Tedeschi
Jul 14, 2016·British Journal of Haematology·Christopher MasonSteven L Allen
Oct 21, 2016·Haematologica·Monique C MinnemaSteven P Treon
Dec 14, 2016·The Lancet Oncology·Meletios A DimopoulosUNKNOWN iNNOVATE Study Group and the European Consortium for Waldenström's Macroglobulinemia
Jan 6, 2017·JAMA Oncology·Prashant KapoorCraig B Reeder
Aug 30, 2017·Leukemia & Lymphoma·Laura S Hiemcke-JiwaMonique C Minnema
Nov 21, 2017·Cancer Science·Keiichiro HattoriShigeru Chiba
Dec 28, 2017·American Journal of Hematology·Joshua N GustineJorge J Castillo
Mar 24, 2018·Haematologica·Daniela DrandiSimone Ferrero
Jun 2, 2018·The New England Journal of Medicine·Meletios A DimopoulosUNKNOWN iNNOVATE Study Group and the European Consortium for Waldenström’s Macroglobulinemia
Jul 26, 2018·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Steven P TreonJorge J Castillo
Dec 14, 2018·Blood·Jorge J CastilloSteven P Treon
Aug 21, 2019·British Journal of Haematology·Jorge J Castillo, Steven P Treon
Feb 23, 2020·Haematologica·Sabela BobilloJoan Seoane