Waldenström's macroglobulinemia diagnostic study of choice
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Sara Mohsin, M.D.[2] Shyam Patel [3] Roukoz A. Karam, M.D.[4]
Overview
The diagnosis of Waldenström macroglobulinemia is based on bone marrow biopsy and serum protein analysis.
Diagnostic study of choice
Diagnostic study of choice
There is no single diagnostic study of choice for the diagnosis of Waldenström macroglobulinemia (WM), but bone marrow aspiration and biopsy is considered to be mandatory for assessment of patients with WM and further supported by monoclonal protein/immunophenotypic studies like immunohistochemistry, flow cytometry and cytogenetics to distinguish WM from other types of B-cell lymphomas.[1][2]
Diagnostic Criteria
In September 26-30, 2002, in Athens, Greece, the Second International Workshop was held in which a diagnostic criteria for Waldenstrom's Macroglobulinemia was proposed. According to this criteria, the following findings on performing bone marrow biopsy and serum protein analysis are confirmatory of Waldenström macroglobulinemia:[1]
- Presence of IgM monoclonal gammopathy of any concentration on serum protein analysis.
- A bone marrow biopsy demonstrating more than 10% infiltration by small lymphocytes showing plasmacytoid/plasma-cell differentiation with an intertrabecular pattern consistent with lymphoplasmacytic lymphoma.
- IgM concentration widely varies in WM, and it is not possible to define a concentration that reliably distinguishes WM from other lymphoproliferative disorders. Hence, a diagnosis of WM can be made irrespective of IgM concentration if there is evidence of bone marrow infiltration by lymphoplasmacytoid lymphoma as defined by the Revised European-American Lymphoma classification and WHO criteria.[3] This is a tumor of small lymphocytes showing evidence of plasmacytoid or plasma-cell differentiation.
- A recent study found that, in 39% of patients, the bone marrow aspirate contained a spectrum of small lymphocytes, plasmacytoid lymphocytes, and plasma cells. In 39% of the patients, there was a predominance of small lymphocytes with fewer plasmacytoid lymphocytes or plasma cells, and 22% of the patients contained a mixture of small lymphocytes and plasma cells, with rare plasmacytoid cells. Mast cells were increased in 26% of patients.[4]
- Intertrabecular pattern of bone marrow infiltration.
- Immunophenotype of the lymphoplasmacytic infiltrate consistent with Waldenstrom's macroglobulinemia. This includes: IgM+, CD5-, CD10-, CD11c-, CD19+, CD20+, CD22+, CD23-, CD25+, CD27+, FMC7+, CD103- and CD138+.[5][6][7]
(3,4 are supportive of but not necessary for WM diagnosis).
- Another diagnostic Criteria for Waldenström Macroglobulinemia and Associated Disorders is as follow:[8]
- Waldenström macroglobulinemia:
- IgM monoclonal gammopathy (regardless of the size of the M protein) with >10% bone marrow lymphoplasmacytic infiltration (usually intertrabecular) by small lymphocytes that exhibit plasmacytoid or plasma cell differentiation and a typical immunophenotype (surface IgM+, CD5–, CD10–, CD19+, CD20+, CD23–) that satisfactorily excludes other lymphoproliferative disorders, including chronic lymphocytic leukemia and mantle cell lymphoma.
- IgM MGUS:
- Serum IgM monoclonal protein level <3 g/dL, bone marrow lymphoplasmacytic infiltration <10%, and no evidence of anemia, constitutional symptoms, hyperviscosity, lymphadenopathy, or hepatosplenomegaly.
- Smoldering Waldenström macroglobulinemia (also referred to as indolent or asymptomatic Waldenström macroglobulinemia):
- Serum IgM monoclonal protein level ≥3 g/dL and/or bone marrow lymphoplasmacytic infiltration ≥10% and no evidence of end-organ damage, such as anemia, constitutional symptoms, hyperviscosity, lymphadenopathy, or hepatosplenomegaly, that can be attributed to a lymphoplasmacytic proliferative disorder.
Definitive Diagnostic Tests
- Genetic Testing:
- ARIDA
- IG gene rearrangement
- CXCR4 5338X
- MYD88 L265P
- Immunophenotyping
- Serum paraprotein
References
- ↑ 1.0 1.1 Dimopoulos MA, Kyle RA, Anagnostopoulos A, Treon SP (2005). "Diagnosis and management of Waldenstrom's macroglobulinemia". J Clin Oncol. 23 (7): 1564–77. doi:10.1200/JCO.2005.03.144. PMID 15735132.
- ↑ Swerdlow SH, Campo E, Pileri SA, Harris NL, Stein H, Siebert R; et al. (2016). "The 2016 revision of the World Health Organization classification of lymphoid neoplasms". Blood. 127 (20): 2375–90. doi:10.1182/blood-2016-01-643569. PMC 4874220. PMID 26980727.
- ↑ Harris NL, Jaffe ES, Stein H, Banks PM, Chan JK, Cleary ML; et al. (1994). "A revised European-American classification of lymphoid neoplasms: a proposal from the International Lymphoma Study Group". Blood. 84 (5): 1361–92. PMID 8068936.
- ↑ Remstein ED, Hanson CA, Kyle RA, Hodnefield JM, Kurtin PJ (2003). "Despite apparent morphologic and immunophenotypic heterogeneity, Waldenstrom's macroglobulinemia is consistently composed of cells along a morphologic continuum of small lymphocytes, plasmacytoid lymphocytes, and plasma cells". Semin Oncol. 30 (2): 182–6. doi:10.1053/sonc.2003.50073. PMID 12720133.
- ↑ San Miguel JF, Vidriales MB, Ocio E, Mateo G, Sánchez-Guijo F, Sánchez ML; et al. (2003). "Immunophenotypic analysis of Waldenstrom's macroglobulinemia". Semin Oncol. 30 (2): 187–95. doi:10.1053/sonc.2003.50074. PMID 12720134.
- ↑ Owen RG, Barrans SL, Richards SJ, O'Connor SJ, Child JA, Parapia LA; et al. (2001). "Waldenström macroglobulinemia. Development of diagnostic criteria and identification of prognostic factors". Am J Clin Pathol. 116 (3): 420–8. doi:10.1309/4LCN-JMPG-5U71-UWQB. PMID 11554171.
- ↑ Konoplev S, Medeiros LJ, Bueso-Ramos CE, Jorgensen JL, Lin P (2005). "Immunophenotypic profile of lymphoplasmacytic lymphoma/Waldenström macroglobulinemia". Am J Clin Pathol. 124 (3): 414–20. doi:10.1309/3G1X-DX0D-VHBN-VKB4. PMID 16191510.
- ↑ Ansell, Stephen M.; Kyle, Robert A.; Reeder, Craig B.; Fonseca, Rafael; Mikhael, Joseph R.; Morice, William G.; Bergsagel, P. Leif; Buadi, Francis K.; Colgan, Joseph P.; Dingli, David; Dispenzieri, Angela; Greipp, Philip R.; Habermann, Thomas M.; Hayman, Suzanne R.; Inwards, David J.; Johnston, Patrick B.; Kumar, Shaji K.; Lacy, Martha Q.; Lust, John A.; Markovic, Svetomir N.; Micallef, Ivana N.M.; Nowakowski, Grzegorz S.; Porrata, Luis F.; Roy, Vivek; Russell, Stephen J.; Short, Kristen E. Detweiler; Stewart, A. Keith; Thompson, Carrie A.; Witzig, Thomas E.; Zeldenrust, Steven R.; Dalton, Robert J.; Rajkumar, S. Vincent; Gertz, Morie A. (2010). "Diagnosis and Management of Waldenström Macroglobulinemia: Mayo Stratification of Macroglobulinemia and Risk-Adapted Therapy (mSMART) Guidelines". Mayo Clinic Proceedings. 85 (9): 824–833. doi:10.4065/mcp.2010.0304. ISSN 0025-6196.