MYD88 L265P mutation contributes to the diagnosis of Bing Neel syndrome

British Journal of Haematology

Volumn 167, Issue 4, 2014, Pages 506-513

  Poulain, Stéphanie ^a,b,c   Boyle, Eileen M ^b,c   Roumier, Christophe ^b,c   Demarquette, Hélène ^a   Wemeau, Mathieu ^b   Geffroy, Sandrine ^b   Herbaux, Charles ^b,c   Bertrand, Elisabeth ^c   Hivert, Bénédicte ^b   Terriou, Louis ^b   Verrier, Albert ^a   Pollet, Jean Paul ^a   Maurage, Claude Alain ^b   Onraed, Brigitte ^b   Morschhauser, Franck ^b   Quesnel, Bruno ^b,c   Duthilleul, Patrick ^a   Preudhomme, Claude ^b,c   Leleu, Xavier ^b,c  

^a CENTRE HOSPITALIER DE VALENCIENNES   (France)

^b LILLE UNIVERSITY HOSPITAL   (France)

^c IRCL   (France)

Author keywords

Bing Neel Syndrome; Diagnosis; Monitoring; MYD88 mutation; Waldenstrom macroglobulinaemia

Indexed keywords

BORTEZOMIB; CD79A ANTIGEN; CD79B ANTIGEN; CHEMOKINE RECEPTOR CXCR4; CYTARABINE; DEXAMETHASONE; ETOPOSIDE; FLUDARABINE; METHOTREXATE; MYELOID DIFFERENTIATION FACTOR 88; PROCARBAZINE; RITUXIMAB; VINCRISTINE; MYD88 PROTEIN, HUMAN; TUMOR PROTEIN;

ADULT; AGED; ARTICLE; BING NEEL SYNDROME; BONE MARROW; CASE REPORT; CD79A GENE; CD79B GENE; CEREBROSPINAL FLUID CYTOLOGY; CXCR4 GENE; FLOW CYTOMETRY; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY LOSS; HUMAN; HUMAN TISSUE; MALE; MIDDLE AGED; MULTIPLE CYCLE TREATMENT; MYD88 GENE; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROSPECTIVE STUDY; QUANTITATIVE ANALYSIS; CEREBROSPINAL FLUID; CLINICAL TRIAL; GENETICS; HETEROZYGOTE; METABOLISM; MISSENSE MUTATION; NERVOUS SYSTEM DISEASES; PATHOLOGY; SYNDROME; WALDENSTROEM MACROGLOBULINEMIA;

ADULT; AGED; BONE MARROW; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; MYELOID DIFFERENTIATION FACTOR 88; NEOPLASM PROTEINS; NERVOUS SYSTEM DISEASES; PROSPECTIVE STUDIES; SYNDROME; WALDENSTROM MACROGLOBULINEMIA;

EID: 84915804247     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/bjh.13078     Document Type: Article

References (22)

1. Abdallah, A.O., Atrash, S., Muzaffar, J., Abdallah, M., Kumar, M., Van Rhee, F. & Barlogie, B. (2013) Successful treatment of Bing-Neel syndrome using intrathecal chemotherapy and systemic combination chemotherapy followed by BEAM auto-transplant: a case report and review of literature. Clinical Lymphoma, Myeloma & Leukemia, 13, 502-506.
2. Baraniskin, A., Deckert, M., Schulte-Altedorneburg, G., Schlegel, U. & Schroers, R. (2012) Current strategies in the diagnosis of diffuse large B-cell lymphoma of the central nervous system. British Journal of Haematology, 156, 421-432.
3. Bing, J. & Neel, A. (1936) Two cases of hyperglobulinemia with affection of the central nervous system on a toxi-infection. Acta Medica Scandinavica, 88, 492-506.
4. Galati, D., Di Noto, R. & Del Vecchio, L. (2013) Diagnostic strategies to investigate cerebrospinal fluid involvement in haematological malignancies. Leukemia Research, 37, 231-237.
5. Garderet, L., Baudel, J.L., Cervera, P., Azizi, L., Maury, E., Guidet, B., Gorin, N.C. & Offenstadt, G. (2006) 'Indolent' Waldenstrom's macroglobulinemia and a cerebrospinal fluid protein level of 16 g/L. European Journal of Haematology, 77, 80-82.
6. Ghobrial, I.M. (2012) Are you sure this is Waldenstrom macroglobulinemia? Hematology / the Education Program of the American Society of Hematology, 2012, 586-594.
7. Gonzalez-Aguilar, A., Idbaih, A., Boisselier, B., Habbita, N., Rossetto, M., Laurenge, A., Bruno, A., Jouvet, A., Polivka, M., Adam, C., Figarella-Branger, D., Miquel, C., Vital, A., Ghesquieres, H., Gressin, R., Delwail, V., Taillandier, L., Chinot, O., Soubeyran, P., Gyan, E., Choquet, S., Houillier, C., Soussain, C., Tanguy, M.L., Marie, Y., Mokhtari, K. & Hoang-Xuan, K. (2012) Recurrent mutations of MYD88 and TBL1XR1 in primary central nervous system lymphomas. Clinical Cancer Research, 18, 5203-5211.
8. Hunter, Z.R., Xu, L., Yang, G., Zhou, Y., Liu, X., Cao, Y., Manning, R.J., Tripsas, C., Patterson, C.J., Sheehy, P. & Treon, S.P. (2014) The genomic landscape of Waldenstrom macroglobulinemia is characterized by highly recurring MYD88 and WHIM-like CXCR4 mutations, and small somatic deletions associated with B-cell lymphomagenesis. Blood, 123, 1637-1646.
9. Jeelall, Y.S. & Horikawa, K. (2011) Oncogenic MYD88 mutation drives Toll pathway to lymphoma. Immunology and Cell Biology, 89, 659-660.
10. Jimenez, C., Sebastian, E., Chillon, M.C., Giraldo, P., Mariano Hernandez, J., Escalante, F., Gonzalez-Lopez, T.J., Aguilera, C., de Coca, A.G., Murillo, I., Alcoceba, M., Balanzategui, A., Sarasquete, M.E., Corral, R., Marin, L.A., Paiva, B., Ocio, E.M., Gutierrez, N.C., Gonzalez, M., San Miguel, J.F. & Garcia-Sanz, R. (2013) MYD88 L265P is a marker highly characteristic of, but not restricted to, Waldenstrom's macroglobulinemia. Leukemia, 27, 1722-1728.
11. Ly, K.I., Fintelmann, F., Forghani, R., Schaefer, P.W., Hochberg, E.P. & Hochberg, F.H. (2011) Novel diagnostic approaches in Bing-Neel syndrome. Clinical Lymphoma Myeloma & Leukemia, 11, 180-183.
12. Malkani, R.G., Tallman, M., Gottardi-Littell, N., Karpus, W., Marszalek, L., Variakojis, D., Kaden, B., Walker, M., Levy, R.M. & Raizer, J.J. (2010) Bing-Neel syndrome: an illustrative case and a comprehensive review of the published literature. Journal of Neuro-oncology, 96, 301-312.
13. Montesinos-Rongen, M., Godlewska, E., Brunn, A., Wiestler, O.D., Siebert, R. & Deckert, M. (2011) Activating L265P mutations of the MYD88 gene are common in primary central nervous system lymphoma. Acta Neuropathologica, 122, 791-792.
14. Montesinos-Rongen, M., Schafer, E., Siebert, R. & Deckert, M. (2012) Genes regulating the B cell receptor pathway are recurrently mutated in primary central nervous system lymphoma. Acta Neuropathologica, 124, 905-906.
15. Owen, R.G., Treon, S.P., Al-Katib, A., Fonseca, R., Greipp, P.R., McMaster, M.L., Morra, E., Pangalis, G.A., San Miguel, J.F., Branagan, A.R. & Dimopoulos, M.A. (2003) Clinicopathological definition of Waldenstrom's macroglobulinemia: consensus panel recommendations from the Second International Workshop on Waldenstrom's Macroglobulinemia. Seminars in Oncology, 30, 110-115.
16. Poulain, S., Roumier, C., Decambron, A., Renneville, A., Herbaux, C., Bertrand, E., Tricot, S., Daudignon, A., Galiegue-Zouitina, S., Soenen, V., Theisen, O., Grardel, N., Nibourel, O., Roche-Lestienne, C., Quesnel, B., Duthilleul, P., Preudhomme, C. & Leleu, X. (2013a) MYD88 L265P mutation in Waldenstrom macroglobulinemia. Blood, 121, 4504-4511.
17. Poulain, S., Roumier, C., Galiegue-Zouitina, S., Daudignon, A., Herbaux, C., Aiijou, R., Lainelle, A., Broucqsault, N., Bertrand, E., Manier, S., Renneville, A., Soenen, V., Tricot, S., Roche-Lestienne, C., Duthilleul, P., Preudhomme, C., Quesnel, B., Morel, P. & Leleu, X. (2013b) Genome wide SNP array identified multiple mechanisms of genetic changes in Waldenstrom macroglobulinemia. American Journal of Hematology, 88, 948-954.
18. Roccaro, A.M., Sacco, A., Jimenez, C., Maiso, P., Moschetta, M., Mishima, Y., Aljawai, Y., Sahin, I., Kuhne, M., Cardarelli, P., Cohen, L., San Miguel, J.F., Garcia-Sanz, R. & Ghobrial, I.M. (2014) C1013G/CXCR4 acts as a driver mutation of tumor progression and modulator of drug resistance in lymphoplasmacytic lymphoma. Blood, 123, 4120-4131.
19. Treon, S.P., Xu, L., Yang, G., Zhou, Y., Liu, X., Cao, Y., Sheehy, P., Manning, R.J., Patterson, C.J., Tripsas, C., Arcaini, L., Pinkus, G.S., Rodig, S.J., Sohani, A.R., Harris, N.L., Laramie, J.M., Skifter, D.A., Lincoln, S.E. & Hunter, Z.R. (2012) MYD88 L265P somatic mutation in Waldenstrom's macroglobulinemia. New England Journal of Medicine, 367, 826-833.
20. Varettoni, M., Arcaini, L., Zibellini, S., Boveri, E., Rattotti, S., Riboni, R., Corso, A., Orlandi, E., Bonfichi, M., Gotti, M., Pascutto, C., Mangiacavalli, S., Croci, G., Fiaccadori, V., Morello, L., Guerrera, M.L., Paulli, M. & Cazzola, M. (2013) Prevalence and clinical significance of the MYD88 (L265P) somatic mutation in Waldenstrom's macroglobulinemia and related lymphoid neoplasms. Blood, 121, 2522-2528.
21. Xu, L., Hunter, Z.R., Yang, G., Zhou, Y., Cao, Y., Liu, X., Morra, E., Trojani, A., Greco, A., Arcaini, L., Varettoni, M., Brown, J.R., Tai, Y.T., Anderson, K.C., Munshi, N.C., Patterson, C.J., Manning, R.J., Tripsas, C.K., Lindeman, N.I. & Treon, S.P. (2013) MYD88 L265P in Waldenstrom macroglobulinemia, immunoglobulin M monoclonal gammopathy, and other B-cell lymphoproliferative disorders using conventional and quantitative allele-specific polymerase chain reaction. Blood, 121, 2051-2058.
22. Zetterberg, H. (2011) Pathognomonic cerebrospinal fluid findings in Bing-Neel syndrome. Journal of Neuro-oncology, 104, 615.