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Diagnosis
[edit]There is no clear-cut route to diagnosing Bing-Neel Syndrome(BNS), meaning no one diagnostic tool alone is conclusive in diagnosing BNS. But through the utilization of several different tools cooperatively, a diagnosis can be reached through the elimination of other CNS pathologies.
Histology
[edit]Infiltration of malignant, differentiated B-cells linked to Waldenstrom Macroglobulinemia (WM) into the nervous system precipitates Bing-Neel Syndrome (BNS). Histological practices that entail a biopsy of the cerebrum and/or the meninges look for the presence of lymphoplasmacytic lymphomas (Mature B-cells). Though a biopsy alone is not indicative of BNS, it is a necessary step that ensures that at the very least, the CNS has been infiltrated by some sort of lymphoma.[1][2]
Cerebrospinal Fluid Analysis
[edit]Analysis entails analyzing several different aspects of the cerebrospinal fluid (CSF) to identify characteristics linked to WM and BNS. Quantification of leukocytes and their differentiation as well as a morphological analysis of any detected malignant lymphomas found in the CSF.
Flow cytometry, used to identify cell biomarkers, is an auxiliary tool used in CSF analysis. With respect to diagnosing BNS, flow cytometry analyzes CSF contents for B-cells expressing the pan antigens CD19 and CD20, commonly found in WM; it should be noted, not all cases of BNS show conclusive findings in CSF analysis.[3][2][1]
Radiology
[edit]MRI with gadolinium contrast is the primary radiologic tool used to diagnose ailments of the central nervous system, BNS included. MRI’s effect is twofold in that it is able to identify brain and spine abnormalities, as well as identifying tissues appropriate for biopsy. MRI with gadolinium contrast can also discern which form of BNS has formed. Where the tumoral form of BNS is highlighted by tumor growth in the subcortical hemispheric regions, the diffuse form of BNS is characterized by leptomeningeal and perivascular infiltration by lymphoid cells. Other characteristics of BNS identified via MRI are abnormal enhancement of cranial and spinal nerves, as well as thickening and enhancement of the cauda equina.[1][2][3]
Sequence Analysis
[edit]The MYD88 L2659 is a gene mutation found in the majority of WM cases. During CSF analysis, PCR amplification of genomic DNA found in the fluid followed by sequencing can determine if the mutation is present within the CNS; is so, this would be indicative of, though not conclusive, of BNS.[4]
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- ^ a b c Minnema, Monique C.; Kimby, Eva; D’Sa, Shirley; Fornecker, Luc-Matthieu; Poulain, Stéphanie; Snijders, Tom J.; Kastritis, Efstathios; Kremer, Stéphane; Fitsiori, Aikaterini (2017-01-01). "Guideline for the diagnosis, treatment and response criteria for Bing-Neel syndrome". Haematologica. 102 (1): 43–51. doi:10.3324/haematol.2016.147728. ISSN 0390-6078. PMC 5210231. PMID 27758817.
{{cite journal}}: CS1 maint: PMC format (link) - ^ a b c Ly, K. Ina; Fintelmann, Florian; Forghani, Reza; Schaefer, Pamela W.; Hochberg, Ephraim P.; Hochberg, Fred H. (2011-02-01). "Novel Diagnostic Approaches in Bing-Neel Syndrome". Clinical Lymphoma Myeloma and Leukemia. 11 (1): 180–183. doi:10.3816/CLML.2011.n.043.
- ^ a b Castillo, Jorge J.; D'Sa, Shirley; Lunn, Michael P.; Minnema, Monique C.; Tedeschi, Alessandra; Lansigan, Frederick; Palomba, M. Lia; Varettoni, Marzia; Garcia-Sanz, Ramon (2016-03-01). "Central nervous system involvement by Waldenström macroglobulinaemia (Bing-Neel syndrome): a multi-institutional retrospective study". British Journal of Haematology. 172 (5): 709–715. doi:10.1111/bjh.13883. ISSN 1365-2141. PMID 26686858.
- ^ Poulain, Stéphanie; Boyle, Eileen M.; Roumier, Christophe; Demarquette, Hélène; Wemeau, Mathieu; Geffroy, Sandrine; Herbaux, Charles; Bertrand, Elisabeth; Hivert, Bénédicte (2014-11-01). "MYD88 L265P mutation contributes to the diagnosis of Bing Neel syndrome". British Journal of Haematology. 167 (4): 506–513. doi:10.1111/bjh.13078. ISSN 1365-2141.