Waldenström’s Macroglobulinemia: An Exploration into the Pathology and Diagnosis of a Complex B-Cell Malignancy
Elham Askari,1 Sara Rodriguez,2 Ramon Garcia-Sanz3 1Hematology Department, Fundación Jiménez Díaz, Centro de Investigación Biomédica en Red-Cáncer (CIBERONC) CB16/12/00369, Madrid, Spain; 2Clinica Universidad de Navarra, Centro de Investigación Medica Aplicada (CIMA), Instituto de Investigación Sani...
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| Format: | Article |
| Language: | English |
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Dove Medical Press
2021-08-01
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| Series: | Journal of Blood Medicine |
| Subjects: | |
| Online Access: | https://www.dovepress.com/waldenstrms-macroglobulinemia-an-exploration-into-the-pathology-and-di-peer-reviewed-fulltext-article-JBM |
| _version_ | 1818695513767149568 |
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| author | Askari E Rodriguez S Garcia-Sanz R |
| author_facet | Askari E Rodriguez S Garcia-Sanz R |
| author_sort | Askari E |
| collection | DOAJ |
| description | Elham Askari,1 Sara Rodriguez,2 Ramon Garcia-Sanz3 1Hematology Department, Fundación Jiménez Díaz, Centro de Investigación Biomédica en Red-Cáncer (CIBERONC) CB16/12/00369, Madrid, Spain; 2Clinica Universidad de Navarra, Centro de Investigación Medica Aplicada (CIMA), Instituto de Investigación Sanitaria de Navarra (IDISNA), Accelerator project, Centro de Investigación Biomédica en Red-Cáncer (CIBERONC) CB16/12/00369, Pamplona, Spain; 3Haematology Department, University Hospital of Salamanca, Research Biomedical Institute of Salamanca (IBSAL), Accelerator project, Centro de Investigación Biomédica en Red-Cáncer (CIBERONC) CB16/12/00369 and Center for Cancer Research-IBMCC (USAL-CSIC), Salamanca, SpainCorrespondence: Ramon Garcia-SanzDepartment of Hematology, University Hospital of Salamanca, Paseo de San Vicente, 58-182, Salamanca, 37007, SpainTel +34 923291100Fax +34 923294624Email rgarcias@usal.esAbstract: After 77 years since the initial description, Waldenström macroglobulinemia (WM) remains as a bone marrow neoplastic disorder with lymphoplasmacytic differentiation oversecreting a monoclonal immunoglobulin M (IgM). However, many biological and genetic aspects of this entity have been unraveled and it is now easy to correctly diagnose patients with this illness. The diagnosis requires the presence of a monoclonal IgM component and bone marrow lymphoid infiltration must be demonstrated. In addition, other small B-cell lymphoid neoplasms with plasma cell differentiation must be discarded. Although the clinical picture is highly heterogeneous, the diagnosis is much easier today compared to the past, since now we can demonstrate the presence of somatic mutations, especially the L265P mutation in the MYD88 gene, highly characteristic of WM (> 90% of the patients), followed by the WHIM-like mutations in the CXCR4 gene (∼ 35%). The identification of these mutations is very important, because they can modulate the response to new treatments with Bruton’s tyrosine kinase (BTK) inhibitors. Thus, the conventional prognostic factors that predict the outcome of these patients (anemia, thrombopenia, high M component, high B2M, and advanced age), must be complemented with the genetic evaluation of the patient, that can help us in the prediction of the risk of transformation from asymptomatic to symptomatic forms (Del6q) and/or from indolent forms of the disease to aggressive lymphomas (CD79b mutations).Keywords: Waldenström’s macroglobulinemia, IgM-MGUS, pathology, biology, diagnosis, prognosis |
| first_indexed | 2024-12-17T13:46:40Z |
| format | Article |
| id | doaj.art-1a2fe9ccdc28416687c414889be1fa90 |
| institution | Directory Open Access Journal |
| issn | 1179-2736 |
| language | English |
| last_indexed | 2024-12-17T13:46:40Z |
| publishDate | 2021-08-01 |
| publisher | Dove Medical Press |
| record_format | Article |
| series | Journal of Blood Medicine |
| spelling | doaj.art-1a2fe9ccdc28416687c414889be1fa902022-12-21T21:46:08ZengDove Medical PressJournal of Blood Medicine1179-27362021-08-01Volume 1279580768364Waldenström’s Macroglobulinemia: An Exploration into the Pathology and Diagnosis of a Complex B-Cell MalignancyAskari ERodriguez SGarcia-Sanz RElham Askari,1 Sara Rodriguez,2 Ramon Garcia-Sanz3 1Hematology Department, Fundación Jiménez Díaz, Centro de Investigación Biomédica en Red-Cáncer (CIBERONC) CB16/12/00369, Madrid, Spain; 2Clinica Universidad de Navarra, Centro de Investigación Medica Aplicada (CIMA), Instituto de Investigación Sanitaria de Navarra (IDISNA), Accelerator project, Centro de Investigación Biomédica en Red-Cáncer (CIBERONC) CB16/12/00369, Pamplona, Spain; 3Haematology Department, University Hospital of Salamanca, Research Biomedical Institute of Salamanca (IBSAL), Accelerator project, Centro de Investigación Biomédica en Red-Cáncer (CIBERONC) CB16/12/00369 and Center for Cancer Research-IBMCC (USAL-CSIC), Salamanca, SpainCorrespondence: Ramon Garcia-SanzDepartment of Hematology, University Hospital of Salamanca, Paseo de San Vicente, 58-182, Salamanca, 37007, SpainTel +34 923291100Fax +34 923294624Email rgarcias@usal.esAbstract: After 77 years since the initial description, Waldenström macroglobulinemia (WM) remains as a bone marrow neoplastic disorder with lymphoplasmacytic differentiation oversecreting a monoclonal immunoglobulin M (IgM). However, many biological and genetic aspects of this entity have been unraveled and it is now easy to correctly diagnose patients with this illness. The diagnosis requires the presence of a monoclonal IgM component and bone marrow lymphoid infiltration must be demonstrated. In addition, other small B-cell lymphoid neoplasms with plasma cell differentiation must be discarded. Although the clinical picture is highly heterogeneous, the diagnosis is much easier today compared to the past, since now we can demonstrate the presence of somatic mutations, especially the L265P mutation in the MYD88 gene, highly characteristic of WM (> 90% of the patients), followed by the WHIM-like mutations in the CXCR4 gene (∼ 35%). The identification of these mutations is very important, because they can modulate the response to new treatments with Bruton’s tyrosine kinase (BTK) inhibitors. Thus, the conventional prognostic factors that predict the outcome of these patients (anemia, thrombopenia, high M component, high B2M, and advanced age), must be complemented with the genetic evaluation of the patient, that can help us in the prediction of the risk of transformation from asymptomatic to symptomatic forms (Del6q) and/or from indolent forms of the disease to aggressive lymphomas (CD79b mutations).Keywords: Waldenström’s macroglobulinemia, IgM-MGUS, pathology, biology, diagnosis, prognosishttps://www.dovepress.com/waldenstrms-macroglobulinemia-an-exploration-into-the-pathology-and-di-peer-reviewed-fulltext-article-JBMwaldenström’s macroglobulinemiaigm-mguspathologybiologydiagnosisprognosis |
| spellingShingle | Askari E Rodriguez S Garcia-Sanz R Waldenström’s Macroglobulinemia: An Exploration into the Pathology and Diagnosis of a Complex B-Cell Malignancy Journal of Blood Medicine waldenström’s macroglobulinemia igm-mgus pathology biology diagnosis prognosis |
| title | Waldenström’s Macroglobulinemia: An Exploration into the Pathology and Diagnosis of a Complex B-Cell Malignancy |
| title_full | Waldenström’s Macroglobulinemia: An Exploration into the Pathology and Diagnosis of a Complex B-Cell Malignancy |
| title_fullStr | Waldenström’s Macroglobulinemia: An Exploration into the Pathology and Diagnosis of a Complex B-Cell Malignancy |
| title_full_unstemmed | Waldenström’s Macroglobulinemia: An Exploration into the Pathology and Diagnosis of a Complex B-Cell Malignancy |
| title_short | Waldenström’s Macroglobulinemia: An Exploration into the Pathology and Diagnosis of a Complex B-Cell Malignancy |
| title_sort | waldenstr ouml m rsquo s macroglobulinemia an exploration into the pathology and diagnosis of a complex b cell malignancy |
| topic | waldenström’s macroglobulinemia igm-mgus pathology biology diagnosis prognosis |
| url | https://www.dovepress.com/waldenstrms-macroglobulinemia-an-exploration-into-the-pathology-and-di-peer-reviewed-fulltext-article-JBM |
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