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Erschienen in: International Journal of Hematology 4/2021

22.11.2020 | 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

verfasst von: Hisaharu Shikata, Hisafumi Kihara, Masahiko Kaneko, Shoichi Matsukage, Keiichiro Hattori

Erschienen in: International Journal of Hematology | Ausgabe 4/2021

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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.
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Metadaten
Titel
Monitoring of MYD88 L265P mutation by droplet digital polymerase chain reaction for prediction of early relapse in a patient with Bing–Neel syndrome
verfasst von
Hisaharu Shikata
Hisafumi Kihara
Masahiko Kaneko
Shoichi Matsukage
Keiichiro Hattori
Publikationsdatum
22.11.2020
Verlag
Springer Singapore
Erschienen in
International Journal of Hematology / Ausgabe 4/2021
Print ISSN: 0925-5710
Elektronische ISSN: 1865-3774
DOI
https://doi.org/10.1007/s12185-020-03038-x

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