1. Bing Neel Syndrome in a Previously Untreated Patient With Waldenström's Macroglobulinemia: Contribution of MYD88 L265P Mutation on Cerebrospinal Fluid
- Author
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Paola Picardi, Marco Montillo, Anna Maria Frustaci, Roberto Cairoli, Silvio Veronese, Alessandra Tedeschi, Chiara Rusconi, Anna Maria, F, Chiara, R, Paola, P, Silvio, V, Marco, M, Cairoli, R, and Alessandra, T
- Subjects
Male ,Cancer Research ,Pathology ,medicine.medical_specialty ,Neoplasm, Residual ,Bing Neel Syndrome ,Spinal Puncture ,MYD88 L265P ,03 medical and health sciences ,0302 clinical medicine ,Cerebrospinal fluid ,Untreated Waldenström's macroglobulinemia ,Molecular monitoring ,Antineoplastic Combined Chemotherapy Protocols ,medicine ,Biomarkers, Tumor ,Diplopia ,Humans ,Injections, Spinal ,Bing–Neel syndrome ,biology ,business.industry ,Macroglobulinemia ,Waldenstrom macroglobulinemia ,Large series ,Hematology ,Syndrome ,Middle Aged ,medicine.disease ,Minimal residual disease ,Surgery ,Oncology ,Immunoglobulin M ,Asymptomatic Diseases ,Mutation ,Myeloid Differentiation Factor 88 ,biology.protein ,Waldenstrom Macroglobulinemia ,business ,Celebrospinal fluid ,030217 neurology & neurosurgery ,030215 immunology - Abstract
Bing Neel Syndrome (BNS) is defined as direct central nervous system involvement of Waldenstrom’s macroglobulinemia. BNS is usually a late event, although an incidence of 30% to 36% has been described in large series of previously untreated patients. A wide variety of clinical manifestations and radiologic findings for BNS have been reported in published data, depending on the site and type of infiltration. In addition to the radiologic findings, the diagnostic approach includes lymphoplasmacytic cell quantitation and flow cytometric analysis of the cerebrospinal fluid (CSF). Recently, the evaluation of MYD88 L265P mutation in the CSF has been proposed as a possible diagnostic biomarker for BNS. We describe the case of a 58-year-old patient with BNS. The detection of MYD88 L265P mutation in the CSF contributed to the diagnosis and to the sequential monitoring of minimal residual disease. In the future, the use of CSF sequential molecular monitoring could play an important role in treatment decisions.
- Published
- 2015