title: MYD88 L265P mutation contributes to the diagnosis of Bing Neel syndrome.
abstract: Bing-Neel syndrome (BNS), a rare neurological syndrome associated with Waldenström macroglobulinaemia (WM), is a direct involvement of the central nervous system by lymphoplasmacytoid cells characterized with an adverse prognostic. The MYD88 L265P mutation has been identified in the vast majority of patients with WM. The diagnosis of BNS is often challenging because of the variety of clinical presentations associated with difficult histological techniques. We hypothesized that identification of MYD88 L265P mutation in the cerebrospinal fluid (CSF) would contribute to the diagnosis of BNS in addition to imaging, flow cytometry and cytology. We identified MYD88 L265P mutation in the CSF and the bone marrow of all cases of BNS using quantitative polymerase chain reaction qPCR and Sanger sequencing. Copy neutral loss of heterozygosity including MYD88 was observed in one case. No mutation of CXCR4, CD79A and CD79B was observed in parallel. We further showed that monitoring the quantitative expression of MYD88 L265P mutation might be a useful molecular tool to monitor response to chemotherapy using qPCR. In conclusion, identification of MYD88 L265P mutation might be a new molecular-based biomarker tool to add to the diagnostic and monitoring armamentarium for BNS.
authors.affiliation: Service d'Hématologie-Immunologie -Cytogénétique, Centre Hospitalier de Valenciennes, Valenciennes, France; Laboratoire d'Hématologie, Centre de Biologie Pathologie, CHRU, Lille, France; U837, IRCL, Lille, France.
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Poulain
authors.forename: Eileen M
authors.initials: EM
authors.lastname: Boyle
authors.forename: Christophe
authors.initials: C
authors.lastname: Roumier
authors.forename: Hélène
authors.initials: H
authors.lastname: Demarquette
authors.forename: Mathieu
authors.initials: M
authors.lastname: Wemeau
authors.forename: Sandrine
authors.initials: S
authors.lastname: Geffroy
authors.forename: Charles
authors.initials: C
authors.lastname: Herbaux
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Bertrand
authors.forename: Bénédicte
authors.initials: B
authors.lastname: Hivert
authors.forename: Louis
authors.initials: L
authors.lastname: Terriou
authors.forename: Albert
authors.initials: A
authors.lastname: Verrier
authors.forename: Jean Paul
authors.initials: JP
authors.lastname: Pollet
authors.forename: Claude Alain
authors.initials: CA
authors.lastname: Maurage
authors.forename: Brigitte
authors.initials: B
authors.lastname: Onraed
authors.forename: Franck
authors.initials: F
authors.lastname: Morschhauser
authors.forename: Bruno
authors.initials: B
authors.lastname: Quesnel
authors.forename: Patrick
authors.initials: P
authors.lastname: Duthilleul
authors.forename: Claude
authors.initials: C
authors.lastname: Preudhomme
authors.forename: Xavier
authors.initials: X
authors.lastname: Leleu
mesh_terms: D000328:Adult; D000368:Aged; D001853:Bone Marrow / Q000378:metabolism / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D053594:Myeloid Differentiation Factor 88 / Q000235:genetics* / Q000378:metabolism; D009363:Neoplasm Proteins / Q000235:genetics* / Q000378:metabolism; D009422:Nervous System Diseases / Q000134:cerebrospinal fluid / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D011446:Prospective Studies; D013577:Syndrome; D008258:Waldenstrom Macroglobulinemia / Q000134:cerebrospinal fluid / Q000235:genetics* / Q000473:pathology
chemical_list: C507779:MYD88 protein, human; D053594:Myeloid Differentiation Factor 88; D009363:Neoplasm Proteins
keywords: Bing Neel Syndrome; MYD88 mutation; Waldenstrom macroglobulinaemia; diagnosis; monitoring