Monitoring of MYD88 L265P mutation by droplet digital polymerase chain reaction for prediction of early relapse in a pat
- PDF / 1,856,577 Bytes
- 6 Pages / 595.276 x 790.866 pts Page_size
- 94 Downloads / 156 Views
CASE REPORT
Monitoring of MYD88 L265P mutation by droplet digital polymerase chain reaction for prediction of early relapse in a patient with Bing–Neel syndrome Hisaharu Shikata1 · Hisafumi Kihara1 · Masahiko Kaneko1 · Shoichi Matsukage2 · Keiichiro Hattori3 Received: 2 September 2020 / Revised: 29 October 2020 / Accepted: 9 November 2020 © Japanese Society of Hematology 2020
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. Keyword Bing–neel syndrome · MYD88 L265P mutation · Ibrutinib
Introduction Bing–Neel syndrome (BNS) is a rare neurologic complication of Waldenström’s macroglobulinemia (WM), which is a subtype of lymphoplasmacytic lymphoma (LPL). BNS occurs in approximately 1% of patients with WM and is characterized by direct central nervous system (CNS) involvement of clonal lymphoplasmacytic cells (LPCs) [1, 2]. BNS is considered to occur independently of WM disease progression, and because of its rarity, no standard treatment has yet been established [1, 2]. In this setting, chemotherapy agents that can cross the blood–brain barrier (BBB) are * Hisaharu Shikata [email protected]‑u.ac.jp 1
Department of Hematology, Uwajima City Hospital, 1‑1 Gotenmachi, Uwajima, Ehime 798‑8510, Japan
2
Department of Pathology, Uwajima City Hospital, Uwajima, Japan
3
Department of Hematology, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan
necessary. A Bruton tyrosine kinase (BTK) inhibitor, ibrutinib, has been reported to cross the BBB and trigger apoptosis of MYD88 L265P-positive LPLs through the B-cell receptor (BCR) and NF-κB pathways [3, 4]. Ibrutinib has been reported to be effective for patients with WM/LPL, yielding a favorable outcome in those harboring MYD88 L265P mutation [5, 6]. Small-population clinical trials have also shown ibrutinib to be effective in patients with BNS [7, 8]. It has been reported that MYD88 L265P mutation can
Data Loading...
