A macroglobulinemia de Waldesntröm (WM) é uma doença linfoproliferativa de células B caracterizada pela acumulação de células monoclonais na medula óssea e nos tecidos linfáticos periféricos, associada à produção monoclonal de imunoglobulina M (IgM) no soro.
Introdução
O que você precisa saber de cara
Visão geral
A Macroglobulinemia de Waldenström é uma condição rara classificada sob o código CID-10 C88.0 e o identificador MONDO:0100280. Sua prevalência exata é atualmente desconhecida, e o início dos sintomas costuma ocorrer tipicamente em indivíduos idosos. O padrão de herança associado à condição é descrito como multigênico ou multifatorial.[1][2]
Sinais e sintomas
As manifestações clínicas relatadas incluem alterações hematológicas e imunológicas, como proteinemia monoclonal de imunoglobulina M, anemia normocítica, crioglobulinemia, hipercoagulabilidade, palidez e fadiga, além de quadros hemorrágicos como epistaxe e sangramento gengival. Podem ocorrer também esplenomegalia, hepatomegalia e acometimentos mais graves como linfoma e leucemia.[1][2]
Outros sinais e sintomas descritos compreendem alterações neurológicas e cognitivas — tais como neuropatia periférica, ataxia, paralisia de nervo craniano, comprometimento da memória e consciência ou confusão reduzida —, alterações oftálmicas como morfologia vascular retiniana anormal e proptose, além de manifestações sistêmicas como diarreia, vasculite, derrame pleural, insuficiência cardíaca congestiva, insuficiência renal e insuficiência respiratória.[1][2]
Causas genéticas
Diagnóstico
Conteúdo informativo gerado e mantido automaticamente a partir de fontes oficiais (Orphanet, HPO, OMIM, SUS). Não substitui avaliação médica.
A macroglobulinemia de Waldenström é um câncer raro das células sanguíneas caracterizado por um excesso de células brancas anormais na medula óssea. Essas células anormais apresentam características tanto de linfócitos (células brancas do sangue) chamados células B quanto de células mais maduras derivadas das células B conhecidas como plasmócitos. Essas células anormais com características de linfócitos e plasmócitos são chamadas de células linfoplasmocíticas. Devido a essas células, a macroglobulinemia de Waldenström é classificada como um linfoma linfoplasmocítico. Na macroglobulinemia de Waldenström, essas células anormais produzem quantidades excessivas de IgM, a maior de um tipo de proteína conhecida como imunoglobulina; a superprodução dessa proteína grande contribui para o nome da condição (macroglobulinemia).
A macroglobulinemia de Waldenström geralmente começa na faixa dos sessenta anos de idade e é um câncer de crescimento lento (indolente). Algumas pessoas com a condição apresentam níveis elevados de IgM e células linfoplasmocíticas, mas nenhum sintoma da condição; nesses casos, a doença costuma ser encontrada incidentalmente por um exame de sangue realizado por outro motivo. Essas pessoas são diagnosticadas com macroglobulinemia de Waldenström smoldering (ou assintomática). Pode levar muitos anos até que uma pessoa com a condição desenvolva sinais e sintomas perceptíveis.
Os sinais e sintomas mais comuns que aparecem primeiro em pessoas com macroglobulinemia de Waldenström são fraqueza e cansaço extremo (fadiga) causados por uma escassez de glóbulos vermelhos (anemia). As pessoas afetadas também podem experimentar sintomas gerais, como febre, suores noturnos e perda de peso. Algumas pessoas com macroglobulinemia de Waldenström desenvolvem perda de sensação e fraqueza nos membros (neuropatia periférica). Os médicos não sabem por que essa característica ocorre, embora especulem que a proteína IgM se liga à camada protetora das células nervosas (mielina) e a degrada. Os nervos danificados não conseguem conduzir sinais normalmente, levando à neuropatia.
Outras características da macroglobulinemia de Waldenström são devidas ao acúmulo de células linfoplasmocíticas em diferentes tecidos. Por exemplo, o acúmulo dessas células pode levar a um fígado aumentado (hepatomegalia), baço aumentado (esplenomegalia) ou linfonodos aumentados (linfadenopatia). Na medula óssea, as células linfoplasmocíticas interferem no desenvolvimento normal das células sanguíneas, causando escassez de células sanguíneas saudáveis (pancitopenia).
Vários outros sinais e sintomas da macroglobulinemia de Waldenström estão relacionados às quantidades excessivas de IgM. O aumento de IgM pode tornar o sangue mais espesso e prejudicar a circulação, causando uma condição conhecida como síndrome de hiperviscosidade. As características relacionadas à síndrome de hiperviscosidade incluem sangramento no nariz ou na boca, visão embaçada ou perda de visão, dor de cabeça, tontura e confusão. Em algumas pessoas afetadas, a IgM e outras imunoglobulinas reagem a temperaturas frias formando aglomerados semelhantes a gel que bloqueiam o fluxo sanguíneo em áreas expostas ao frio, como mãos e pés. Essas proteínas aglomeradas são chamadas de crioglobulinas, e seu aglomeramento causa uma condição conhecida como crioglobulinemia. A crioglobulinemia pode levar a dor nas mãos e nos pés ou episódios de fenômeno de Raynaud, nos quais os dedos das mãos e dos pés ficam brancos ou azuis em resposta ao frio. A proteína IgM, juntamente com outra proteína chamada amiloide, pode se acumular em órgãos e interferir na função normal desses órgãos. Esse acúmulo causa uma condição chamada amiloidose. Os órgãos tipicamente afetados pela amiloidose incluem o coração, rins, fígado ou baço. As pessoas afetadas podem experimentar fraqueza, fadiga, falta de ar, batimento cardíaco irregular ou dor nas articulações.
Fonte: MedlinePlus Genetics (NLM/NIH), traduzidoA macroglobulinemia de Waldesntröm (WM) é uma doença linfoproliferativa de células B caracterizada pela acumulação de células monoclonais na medula óssea e nos tecidos linfáticos periféricos, associada à produção monoclonal de imunoglobulina M (IgM) no soro.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 21 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 48 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Multigenic/multifactorial.
Immunodeficiency 68
An autosomal recessive primary immunodeficiency characterized by life-threatening, often recurrent, pyogenic bacterial infections, including invasive pneumococcal disease, beginning in infancy or early childhood.
Variantes genéticas (ClinVar)
22 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
16 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
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Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 1.053
Prognosis and treatment of plasmablastic lymphoma in the United States: a multicenter retrospective study.
Plasmablastic lymphoma (PBL) is a rare, aggressive AIDS-related lymphoma observed in patients with immunosuppressed states as well as in immunocompetent individuals. We sought to determine survival outcomes, prognostic factors, and optimal treatment regimens in a large, contemporary cohort of patients with PBL in the United States. We performed a multicenter, retrospective cohort study, including 344 patients diagnosed with PBL between 2005 and 2022. Patients were stratified into cohorts according to underlying immune status. Survival outcomes were calculated using Kaplan-Meier statistics, with cohort-specific survival outcomes adjusted using propensity score-based weighting. Factors associated with outcomes were assessed via multivariable models using multiple imputation. The median age at diagnosis was 53 years, most patients were male (n = 270), and many had HIV (n = 164). The median OS was 5.0 years, with a median PFS of 1.4 years. Patients living with HIV had the best outcomes, whereas patients with prior organ transplantation had the worst outcomes. Use of higher intensity chemotherapy regimens and use of a proteasome inhibitor in the frontline setting did not show survival benefit. While there was no clear optimal treatment approach in the frontline setting, the median OS of 5.0 years is dramatically improved compared with historical controls.
Quantitative MYD88 L265P and flow cytometry levels for outcome determination in IgM gammopathies: the SAL-TO study.
Waldenström macroglobulinemia (WM) is a rare indolent B-cell lymphoproliferative disorder, often preceded by a history of IgM monoclonal gammopathy of undetermined significance (IgM-MGUS). In this retrospective multicentric study, we collected real-life data from 577 IgM gammopathy patients (221 symptomatic WM, sWM, 245 asymptomatic WM, aWM, 111 IgM-MGUS) from 22 Spanish Centers, with a validation cohort of 166 patients (73 sWM, 71 aWM, 22 IgM-MGUS) from University Hospital of Torino, Italy. Median overall survival (OS) was 126.7 months for the Spanish cohort and 202.8 for the Torino cohort. Multivariate analysis identified significant age > 65 years, male gender, diagnosis of sWM and beta-2-microglobulin >3 as significant predictors for shorter OS. Additionally, age > 65 years, bone marrow (BM) biopsy infiltration, haemoglobin <11.5 g/dL and platelets <100.000/mmc were associated with shorter time to first treatment (TTFT). Pooling data from both cohorts revealed that baseline BM quantitative MYD88 L265P/MYD88 WT ratio > 0.162 (either by ddPCR or quantitative PCR) together with multiparameter flow cytometry (MFC) infiltration >4.39% had a significant impact on OS and TTFT; the combination of MYD88 and MFC levels allowed to stratify patients into high-, intermediate-, and low-risk groups, with high-risk IgM gammopathy patients showing increased disease-related death in competing risk analysis.
Clinical Characteristics and Treatment Outcomes of Patients with Waldenstrom Macroglobulinemia.
Waldenstrom macroglobulinemia (WM) is a rare B-cell lympho-proliferative disorder. There is limited data from India regarding the characteristics and outcomes of patients with WM. We describe here the patients with WM treated at our center over the course of the past 15 years. This was a single center, retrospective analysis. Patients fulfilling the diagnosis of WM who were treated at our center between 2009 and 2023 were included in the study. Fifty-five patients were included in the study for analysis. The median age was 62 years with a Male: Female ratio of 3.2:1. Most patients (n = 42; 76.4%) had symptoms attributable to WM, while 5 patients (9.1%) had Immunoglobulin M (IgM) related symptoms and 8 patients (14.5%) had both. The median hemoglobin of the cohort was 7.4 g/dl and the median serum IgM level was 4.87 g/L. MYD88 mutation testing was done in 30 patients and was positive in 16 (53.3%). The most common first line therapy was chemo-immunotherapy (n = 36; 65.5%). Most common chemo-immunotherapy was Bendamustine-Rituximab followed by Rituximab-Cyclophosphamide-Dexamethasone. The overall response rate and major response rate to front-line therapy was 78.2% and 69.1% respectively. The median follow-up for the entire cohort was 30 months. Fourteen patients died during follow-up with the most common cause being progressive disease (n = 6; 42.9%). The median Event-free Survival, Time to Next therapy and Overall Survival were 45 months, 51 months and 150 months respectively. In our WM case series from India, we found a low incidence of MYD88 mutations with comparable treatment outcomes to western literature.
Evolution of tumor subclones and T-cell dynamics underlie variable ibrutinib responses in Waldenström macroglobulinemia.
To elucidate the molecular basis underlying differential response and resistance to ibrutinib in Waldenström's macroglobulinemia (WM), we conducted a prospective phase II trial (ClinicalTrials.gov; NCT02604511) of ibrutinib monotherapy in treatment-naïve patients. Seventy-four sequential bone marrow (BM) aspirates from 17 patients, collected from baseline through 48 treatment cycles, were profiled using single-cell multi-omics. BM cells segregated primarily into B/plasma cell and T-cell compartments. Longitudinal clonal tracking of malignant B/plasma cells identified three distinct evolutionary patterns: "evolution" (early clone contraction with late clone expansion and increasing genomic complexity), "devolution" (early clone expansion with late clone contraction and genomic simplification), and "no-evolution" (stable clonal architecture). The "evolution" pattern was strongly associated with disease progression, whereas "devolution" correlated with durable clinical response. Transcriptomic profiling of resistant clones enabled development and validation of the Waldenström's Ibrutinib Prediction (WIP) score, which predicted treatment response at baseline. Within the WIP signature, LYN emerged as a key regulator; LYN knockdown or inhibition significantly increased WM cell sensitivity to ibrutinib, suggesting a rational combinatorial strategy. In parallel, GZMB⁺ CD8⁺ effector-memory (TEM) cells expanded post-treatment in progressing patients and co-existed with tumor "evolution". These cells exhibited persistently impaired cytotoxic programs (e.g., GNLY), a de-differentiated memory-like state, elevated PDCD1 expression, and reduced TCR diversity. Together, this study provides the first single-cell framework of tumor clonal evolution and T-cell dysfunction under ibrutinib in WM; introduces the WIP score as a predictive biomarker for treatment response; and identifies actionable tumor-intrinsic and immune mechanisms driving resistance.
POD24 is a Novel Determinant of Prognosis in Patients with Waldenström Macroglobulinemia.
Waldenström macroglobulinemia (WM) is characterized by recurrent MYD88 and CXCR4 mutations, whose prognostic value in chemoimmunotherapy-treated patients remains unclear. Moreover, the typically prolonged progression-free survival (PFS) correlates inconsistently with overall survival (OS), underscoring the importance of examining other surrogates. Progression of disease within 24 months (POD24), an established early endpoint, delineates functionally high-risk patients in other indolent lymphomas. This international study evaluated 253 patients receiving frontline fixed-duration bendamustine-rituximab (BR), a common chemoimmunotherapy for WM. At median follow-up of 5.9 years, 5-year PFS and OS were 65% and 87%, respectively; 5-year PFS was similar between MYD88L265P (90%) and MYD88wild-type (WT) subcohorts (64% each, p=0.4). Among 89 patients with known CXCR4 status, the subcohort with CXCR4mutation (28%) had shorter PFS (median, 3.3 versus 8.8 years; HR 2.8, p=0.0036) and OS (HR 2.6, p=0.036) compared to CXCR4WT. POD24 occurred in 11.5% of patients who demonstrated inferior subsequent OS (5-year OS: 71% versus 86%; HR 3.1, p=0.005) and higher mortality (SMR 3.7), unlike the non-POD24 group, whose mortality was comparable to the matched general population (SMR 1.1). In conclusion, BR is effective, irrespective of the MYD88 status, but CXCR4 mutations and POD24 portend worse outcomes. Non-POD24 patients represent a cohort with distinctly favorable outcome.
Publicações recentes
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Prognosis and treatment of plasmablastic lymphoma in the United States: a multicenter retrospective study.
Blood cancer journalMasquerading as an Interstitial Lung Disease: Intravascular Large B-Cell Lymphoma With Prominent Neo-Angiogenesis.
International journal of surgical pathologyQuantitative MYD88 L265P and flow cytometry levels for outcome determination in IgM gammopathies: the SAL-TO study.
Blood advancesA real-world 10-year follow-up analysis of survival and safety of CD20-targeted therapy in patients with Waldenstrom macroglobulinemia.
Frontiers in oncologyZanubrutinib in AL Amyloidosis Associated With Waldenström Macroglobulinemia and Other B-Cell Non-Hodgkin Lymphoma.
American journal of hematologyFinal Report of a Phase II Study of Ibrutinib and Venetoclax in Previously Untreated Waldenström Macroglobulinemia.
American journal of hematologyAn Atypical Presentation of Ecthyma Gangrenosum in a Patient With Waldenström Macroglobulinemia.
CureusCIDP With and Without Monoclonal Gammopathy of Undetermined Significance (MGUS): Comparison of Clinical Phenotype, Diagnostic Features, and Treatment Response.
Journal of the peripheral nervous system : JPNSWhat is your diagnosis? A spontaneous echo contrast in Waldenström macroglobulinemia.
Intensive care medicineA single-center retrospective study suggests a potential benefit of BTK inhibitor-based therapy in patients with histologic transformation of Waldenström macroglobulinemia.
Annals of medicineA Meta-analysis Investigating Response Rates with Continuous Bruton Tyrosine Kinase Inhibitor Monotherapies in the Treatment of B Cell Lymphomas.
Oncology and therapyVenetoclax or Pirtobrutinib in Relapsed/Refractory Waldenström Macroglobulinemia: Clinical and Molecular Predictors and Sequencing Implications.
American journal of hematologyAdvances and resistance adaptation in BTK-targeted therapy for B-cell malignancies.
Drug resistance updates : reviews and commentaries in antimicrobial and anticancer chemotherapyClinical Characteristics and Treatment Outcomes of Patients with Waldenstrom Macroglobulinemia.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionInterference and failure: The challenge of high-concentration IgM monoclonal protein in capillary zone electrophoresis.
Clinical biochemistryType 2 diabetes and risk of non-Hodgkin lymphoma and multiple myeloma: a pooled analysis.
JNCI cancer spectrumEvolution of tumor subclones and T-cell dynamics underlie variable ibrutinib responses in Waldenström macroglobulinemia.
BloodPersistent Anemia Revealing Underlying B-cell Malignancies: A Report of Two Cases Highlighting a Diagnostic Gap in Primary Care.
CureusOff-trial outcomes of zanubrutinib in Waldenström macroglobulinemia: the prognostic impact of CXCR4 and TP53 alterations.
LeukemiaIncidence, Prevalence, Survival and Mortality of Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma and Waldenström Macroglobulinaemia in Australia.
Cancer medicineBTK Inhibition in Hematology: From CLL/SLL to Emerging Applications Across B-Cell and Immune Disorders.
BiomoleculesClinical outcomes in newly diagnosed patients with Waldenström's macroglobulinaemia treated in a tertiary academic centre.
British journal of haematologyClinicopathological features and management of IgM multiple myeloma and Waldenstrom macroglobulinemia.
Leukemia & lymphomaOnychorrhexis and onychoschizia associated with ibrutinib therapy.
JAAD case reportsQuantitative MYD88L265P and CXCR4S338X analysis to assess clinical trial performance in Waldenstrom macroglobulinemia.
Blood advancesCutaneous Infiltration as an Indicator of Systemic Disease Progression in Waldenström Macroglobulinemia.
International journal of dermatologyCharacteristics and Outcomes of Finnish Patients with Waldenström Macroglobulinemia-A Real-World Study.
Clinical lymphoma, myeloma & leukemiaImmunogammopathy Maculopathy and Macular Schisis with En Face OCT.
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ASM case reportsPOD24 is a Novel Determinant of Prognosis in Patients with Waldenström Macroglobulinemia.
Blood advancesIgG-type lymphoplasmacytic lymphoma with light chain deposition disease.
CEN case reportsA Rare Case of Pyoderma Gangrenosum Pointing to Waldenström Macroglobulinemia.
Case reports in oncological medicineIbrutinib oral suspension bioavailability and compatibility for optimal enteral administration route.
Therapeutic advances in hematologyThe Direction of Modern Therapies in Waldenström Macroglobulinaemia.
Journal of cellular and molecular medicineImmunoglobulin M Multiple Myeloma: Case Report of a Rare Variant of Multiple Myeloma with Diagnostic and Treatment Challenges.
Annals of African medicineOrbital Waldenström Macroglobulinemia With Angiopathic Paraprotein Deposition: A Case Report.
Ophthalmic plastic and reconstructive surgeryMolecular modeling of Waldenström macroglobulinemia.
BloodCutaneous Infiltration of Waldenstrom's Macroglobulinaemia-A Two-Case Series of a Diagnostically Challenging Presentation.
The Australasian journal of dermatologyAvoiding serious treatment-emergent adverse events in Waldenström macroglobulinemia patients.
Expert review of hematologyLate toxicity and long-term efficacy of first-line bendamustine and rituximab combination in patients with Waldenström macroglobulinemia.
LeukemiaWaldenström's macroglobulinemia: The LYSA pragmatic guidelines.
European journal of cancer (Oxford, England : 1990)Solitary Hepatic Plasmacytoma With IgM Monoclonal Gammopathy: A Case Report.
Case reports in hematologyTime to Next Treatment Within 24 Months (TTNT24) as a Predictor of Survival in Lymphoplasmacytic Lymphoma/Waldenström Macroglobulinemia: A Population-Based Observational Study.
European journal of haematologyMulti-omics analysis reveals a unique epigenetic signature in MYD88 wild-type Waldenstrom macroglobulinemia.
HaematologicaZanubrutinib Combined With Rituximab in the Treatment of Bing-Neel Syndrome: A Case Report.
Clinical case reportsLong-term outcomes and treatment patterns in Waldenström macroglobulinemia patients who discontinue Bruton tyrosine kinase inhibitor (BTKi) therapy.
Blood cancer journalExtent of bone marrow infiltration predicts disease progression in asymptomatic Waldenström macroglobulinemia.
Discover oncologyA multicentre prospective phase II study of rituximab combined with bortezomib, lenalidomide and dexamethasone, followed by lenalidomide maintenance (R-VRD) in patients with Waldenström's macroglobulinaemia (KMM1803).
British journal of haematologyBiochemical analysis reveals aberrant and variable Immunoglobulin M composition in Waldenström macroglobulinemia and IgM monoclonal gammopathy of unknown significance.
Frontiers in immunologyClonal identification and homology differentiate primary central nervous system lymphoma from non-central nervous system lymphoplasmacytic lymphoma: a case report.
Journal of medical case reportsTransformation and survival in patients with Waldenström macroglobulinemia: a population-based study.
Discover oncologySoluble BCMA: a window into tumor burden monitoring in Waldenström macroglobulinemia?
Leukemia & lymphomaRepurposing pacritinib to target MYD88-mutated Waldenström macroglobulinaemia.
British journal of haematologyLymphoplasmacytic Lymphoma with IgA Paraprotein: a Case Report and Literature Review.
Clinical laboratoryUncovering regulatory B-cell features associated with regulatory T-cell expansion and global T-cell exhaustion in Waldenström macroglobulinemia Myd88 L252P -like lymphoplasmacytic lymphomas.
HemaSphereDiagnosis of patients with IgM monoclonal gammopathy due to analytical interference.
Clinical biochemistrySuccessful Treatment of Lymphoplasmacytic Lymphoma/Waldenström Macroglobulinemia Complicated by Severe Autoimmune Neutropenia With Rituximab and Bendamustine.
CureusBing-Neel Syndrome in Waldenström Macroglobulinemia: Updates on Clinical Management and BTK Inhibitor Efficacy.
CancersA Rare Combination: Cold Agglutinin Disease Followed by Waldenström Macroglobulinemia-A Case of Early Treatment Response.
Diagnostics (Basel, Switzerland)[Transformation of lymphoplasmacytic lymphoma/Waldenström macroglobulinemia into diffuse large B-cell lymphoma: five cases report and literature review].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhiClinical Utility of Monoclonal Gammopathy Testing in the Evaluation of Anemia.
American journal of hematologyFamilial clusters and clinical features, complications, and outcomes in 1000 patients with Waldenström macroglobulinemia.
Blood advancesBCL-2 inhibition in Waldenström macroglobulinaemia and marginal zone lymphoma.
British journal of haematologyCD180 as a Robust Immunophenotypic Marker for Differentiating Lymphoplasmacytic Lymphoma/Waldenström Macroglobulinemia From Marginal Zone Lymphoma.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, IncZanubrutinib‑Induced Symmetrical Soft Tissue Forearm Swelling in a Patient With Waldenström Macroglobulinemia.
CureusLymphoplasmacytic lymphoma with IgG-λ and free λ light chain paraprotein: A case report.
Medicine[Waldenstrom macroglobulinemia with refractory pleural fluid complicated with chylothorax: a case report].
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Clinical laboratorySoluble BCMA as a biomarker reflecting tumor volume and treatment response in Waldenström macroglobulinemia.
Leukemia & lymphomaGenomics Define Malignant Transformation in Myeloma Precursor Conditions.
Journal of clinical oncology : official journal of the American Society of Clinical OncologyZanubrutinib for high-risk Waldenström macroglobulinemia with complex karyotype and hyperleukocytosis: A case report and literature review.
SAGE open medical case reportsExpanded CD16+CD56+Granzyme B+ NK like CD8+ T cells an off target effect of bruton's tyrosine kinase inhibitors in Waldenström macroglobulinemia.
Scientific reportsCauses of Death Among Waldenström Macroglobulinemia Patients: A Population-Based Study.
Clinical lymphoma, myeloma & leukemiaA Rare Case of Waldenström Macroglobulinemia Presenting as Bilateral Bloody Pleural Effusion and Pancytopenia.
The American journal of case reportsDefining IgM Multiple Myeloma.
American journal of hematologyBruton tyrosine kinase inhibitor in non-IgM lymphoplasmacytic lymphoma: a case report and literature review.
Journal of clinical and experimental hematopathology : JCEHMembranous nephropathy preceding Bing-Neel syndrome: successful treatment with tirabrutinib.
Journal of nephrologyUtility of Plasma Exchange in a Patient with Waldenström Macroglobulinemia and Recurrent Angioedema Secondary to C1 Esterase Inhibitor.
Rhode Island medical journal (2013)Genomic landscape of IgM-MGUS and patients with stable or progressive asymptomatic Waldenström macroglobulinemia.
BloodMonoclonal Cryoglobulinemia Clinically Mimicking Leukocytoclastic Vasculitis: A Case Report and Literature Review.
The American Journal of dermatopathologyThe Transformative Role of Mass Spectrometry in Diagnosing and Monitoring Monoclonal Gammopathies and Plasma Cell Disorders.
The journal of applied laboratory medicineDescription of TEMPI syndrome in Waldenström's macroglobulinemia.
Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnostiMassive pleural effusion as the initial presentation of Waldenström macroglobulinemia: rare extramedullary involvement.
International journal of hematologyEffect of plasma exchange on tirabrutinib plasma concentration in a patient with lymphoplasmacytic lymphoma: A case report.
Cancer chemotherapy and pharmacologySerum B-Cell Maturation Antigen as a Biomarker for Predicting Outcomes and Monitoring Patients With Waldenström Macroglobulinemia.
European journal of haematologyAn Unusual Presentation of IgM Myeloma.
The Journal of the Association of Physicians of IndiaZanubrutinib in the treatment of Waldenström Macroglobulinemia.
Future oncology (London, England)Outcomes after transition from ibrutinib to zanubrutinib in patients with Waldenström macroglobulinemia from the ASPEN study.
Blood advancesCoexistence of Essential Thrombocythemia and Waldenström Macroglobulinemia: A Case Report.
Case reports in hematologyEpidemiology, Real-World Treatment, and Economic Burden of Waldenström Macroglobulinemia: A Comprehensive Analysis Based on Anonymized Claims Data Between 2010 and 2022.
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BloodRapidly progressive fatal hepatic failure due to IgM-related AL amyloidosis in Waldenström's macroglobulinemia: an autopsy case report.
Journal of clinical and experimental hematopathology : JCEHMesenteric Mass Causing Bowel Obstruction in Waldenström Macroglobulinemia.
CureusAn Extremely Rare Cause of Protein-Losing Enteropathy: Waldenström Macroglobulinemia.
ACG case reports journalThe Impact of Tirabrutinib Monotherapy for the Treatment of Bing-Neel Syndrome: A Multicenter Retrospective Study.
American journal of hematologySimultaneous Presentation of Cutaneous Waldenström Macroglobulinemia and Acalabrutinib-Related Toxicity.
The American Journal of dermatopathologyCurrent risk stratification and staging of multiple myeloma and related clonal plasma cell disorders.
LeukemiaUncommon Entities, Uncommon Challenges: A Review of Rare Plasma Cell Disorders.
Hematology reportsWaldenström Macroglobulinemia: The Role of TP53 Mutations in Disease Progression and Therapeutic Response.
Current issues in molecular biologyProgression of IgM Monoclonal Gammopathy of Renal Significance (MGRS) to Symptomatic Waldenström Macroglobulinemia: A Case Report.
Cancer reports (Hoboken, N.J.)SOHO State of the Art Updates and Next Questions | The Optimal Management of Waldenström Macroglobulinemia.
Clinical lymphoma, myeloma & leukemiaLong-term follow-up of venetoclax monotherapy in previously treated patients with Waldenström macroglobulinemia.
Blood advancesIbrutinib plus rituximab vs ibrutinib monotherapy in patients with Waldenström macroglobulinemia: a pooled analysis.
Blood advancesMonoclonal Gammopathy of Renal Significance in a Patient With Cryoglobulinemia and Nephrotic Syndrome: A Case Report.
CureusGenomic and immune profiling of prognostic risk groups in IgM gammopathy reveals novel biomarkers beyond MYD88 L265P.
Frontiers in immunologyLow-Grade B-Cell Neurolymphomatosis: A Case Series and Diagnostic Insight.
World neurosurgery[Zanubrutinib treatment of Waldenström macroglobulinemia complicated by cryoglobulinemia: a case report].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhiSecond Primary Malignancies and Disease Transformation in Patients With Symptomatic Waldenström's Macroglobulinemia.
Clinical lymphoma, myeloma & leukemiaHyperviscosity Syndrome: An Oncologic Emergency.
Emergency medicine clinics of North AmericaPirtobrutinib is an Effective Salvage Treatment After Ibrutinib in Bing-Neel Syndrome.
American journal of hematologyMYD88 L265P Variant Detection with Droplet Digital PCR in Waldenström Macroglobulinemia: Clinical Implications as a Tumor Burden and Prognostic Marker.
Annals of laboratory medicineMacular retinoschisis in a patient with multiple lymphoproliferative malignancies.
American journal of ophthalmology case reportsCystoid Macular Edema Secondary to Hyperviscosity Syndrome in Waldenström Macroglobulinemia: A Case Report of Multimodal Treatment Response and the Adjunctive Role of Acetazolamide.
The Kaohsiung journal of medical sciencesCutaneous macroglobulinosis with Waldenström macroglobulinemia and Bing-Neel syndrome: A case report.
JAAD case reportsThe Amyloidosis Intersection: Dual Amyloid Types in a Single Host.
European journal of haematologyDiagnosis and Management of Waldenstrom's Macroglobulinemia.
Hematological oncologyClinical and Electrodiagnostic Findings in Anti-myelin-Associated Glycoprotein Antibody Polyneuropathy: A Single Center Review.
Journal of clinical neuromuscular diseaseFamilial aspects of multiple myeloma and Waldenström macroglobulinemia: understanding the predisposition in relatives and the importance of early diagnosis.
Leukemia & lymphomaNot just amyloidosis: the spectrum of Waldenstrom's macroglobulinemia-associated renal disease.
Leukemia & lymphomaUveal melanoma following Bruton's tyrosine inhibitor use for the treatment of hematologic malignancies.
American journal of ophthalmology case reportsProspective study of immunogenicity to SARS-CoV-2 booster vaccines in multiple myeloma and Waldenström macroglobulinemia.
Blood advancesFinal results of a multicentre pilot study evaluating brentuximab vedotin with cyclophosphamide, doxorubicin, etoposide and prednisone (BV-CHEP) for the treatment of aggressive adult T-cell leukaemia/lymphoma.
British journal of haematologyAmyloidosis-Related Cardiomyopathy Revealing Waldenstrom Macroglobulinemia: A Case Report.
CureusSynchronous occurrence of Waldenström macroglobulinemia and HER2-positive gastric adenocarcinoma with gastrointestinal stromal tumor: a rare case report.
Frontiers in oncologyReport of Consensus Panel 3 from the 12th International Workshop on Waldenstrom's Macroglobulinemia on the management of patients with high-risk disease.
Seminars in hematologyReport of Consensus Panel 2 from the 12th International Workshop on the management of Bing-Neel syndrome in patients with Waldenstrom's Macroglobulinemia.
Seminars in hematologyPhenotypic Profile of Waldenström Macroglobulinaemia B-Cells: Establishment of a Diagnosis Scoring System and Clinico-Biological Correlations.
Journal of cellular and molecular medicineReport of Consensus Panel 1 from the 12th International Workshop on the management of patients with IgM and Waldenstrom's Macroglobulinemia related neuropathy.
Seminars in hematologyEvidence of the modified staging system and comparative performance of IPSS and revised IPSS in a Single-Center Asian cohort with Waldenström macroglobulinemia.
Leukemia & lymphomaReport of Consensus Panel 6 from the 12th International Workshop on Waldenstrom's Macroglobulinemia on Diagnosis and Management of Transformed Waldenstrom's Macroglobulinemia.
Seminars in hematologyReport of Consensus Panel 4 from the 12th International Workshop on Waldenstrom's Macroglobulinemia on the management of patients with non-IgM lymphoplasmacytic lymphoma.
Seminars in hematologyReport of Consensus Panel 5 from the 12th International Workshop on Waldenstrom's Macroglobulinemia on the management of patients with intolerance or resistance to covalent BTK inhibitors.
Seminars in hematologyTreatment of Anti-Myelin-Associated Glycoprotein (MAG) Antibody Neuropathy Using Zanubrutinib in a Patient With Waldenström Macroglobulinemia: A Clinical Vignette.
CureusWaldenström Macroglobulinemia Diagnosed by Ultrasonography-Guided Biopsy of the Right Perinephric Tumor.
IJU case reportsA multiomic analysis of Waldenström macroglobulinemia defines distinct disease subtypes.
BloodTargeting BCL2 in Waldenström macroglobulinemia: from biology to treatment management.
Frontiers in oncologyEarly Recognition of Retinal Signs in Waldenström's Macroglobulinemia: Implications for Therapeutic Plasma Exchange.
Journal of clinical apheresisOutcomes of the transformation to diffuse large B-cell lymphoma in hodgkin lymphoma and indolent B-cell non-Hodgkin lymphoma: a population-based study.
Annals of hematologyClinical analysis of lymphoma with malignant solid tumor simultaneously: a retrospective case series.
Diagnostic pathologyParaneoplastic leukocytoclastic vasculitis mimicking ulcus cruris as rare initial manifestation of smoldering myeloma IgG kappa.
Annals of hematologyDevelopment and characterization of the novel MYD88 mutated, 6q deleted BCWM.2 cell line for Waldenström macroglobulinaemia.
British journal of haematologyOutcomes of patients with relapsed/refractory lymphoplasmacytic lymphoma/waldenström macroglobulinemia treated with venetoclax: a multicenter retrospective analysis.
Blood cancer journalImpact of Comorbidities on Patients With Waldenström Macroglobulinemia in Taiwan: A Multicenter Study.
JCO global oncologyWaldenström Macroglobulinemia and Chronic Myelomonocytic Leukemia: Case Report and Literature Review.
OncoTargets and therapyCurrent and emerging treatment perspectives for adults with Waldenström macroglobulinemia.
Expert review of anticancer therapyCRE25-038: Worsening COPD From Hyperviscosity: A Case Report of Waldenström Macroglobulinemia.
Journal of the National Comprehensive Cancer Network : JNCCNRare Cases of Escherichia coli-Induced Aortitis in Immunocompromised Patients.
JACC. Case reportsBing-Neel Syndrome: A Missed Opportunity.
CureusWaldenström Macroglobulinemia: 2025 Update on Diagnosis, Risk Stratification, and Management.
American journal of hematologyWaldenström Macroglobulinemia - A State-of-the-Art Review: Part 2- Focus on Therapy.
Mediterranean journal of hematology and infectious diseasesCXCR4 Inhibition Enhances the Efficacy of CD19 Monoclonal Antibody-Mediated Extermination of B-Cell Lymphoma.
International journal of molecular sciencesFrom interference to insight: pseudo-lipidemia led to the diagnosis of Waldenström macroglobulinemia.
BMC cardiovascular disordersDepth of Response From Fixed-Duration Treatment Is Associated With Superior Survival in Waldenstrom Macroglobulinemia.
American journal of hematologyComposite mantle cell lymphoma with cryptic ins(11;2)(q13;p11.2p11.2)/IGK::CCND1 and lymphoplasmacytic lymphoma with MYD88 L265P mutation.
Cancer geneticsZanubrutinib plus Ixazomib and Dexamethasone in Newly Diagnosed Symptomatic Waldenström Macroglobulinemia: A Phase II Study.
Clinical cancer research : an official journal of the American Association for Cancer ResearchHow I diagnose B-cell lymphoproliferative disorders with plasmacytic differentiation.
American journal of clinical pathologySeminal Vesicle Involvement of Waldenström Macroglobulinemia on 18 F-FDG PET/CT.
Clinical nuclear medicineTumor-Associated Macrophage (TAM)-Related Cytokines, sCD163, CCL2, and CCL4, as Novel Biomarkers for Overall Survival and Time to Treatment in Waldenstrom's Macroglobulinemia: Emphasis on Asymptomatic WM.
CellsSalvage treatment after covalent BTKi failure: An unmet need in clinical practice in Waldenstrom macroglobulinemia.
HemaSphereZanubrutinib for the treatment of Bing-Neel syndrome.
British journal of haematologyZanubrutinib in Japanese treatment-naive and relapsed/refractory patients with Waldenström macroglobulinemia and CLL/SLL.
International journal of hematologyDiagnostic next-generation sequencing to detect MYD88 L265P in Lymphoplasmacytic lymphoma compared to ddPCR.
Experimental and molecular pathologyA case of renal infiltration by Bence Jones protein kappa-producing lymphoplasmacytic lymphoma.
CEN case reportsSingle-cell RNA sequencing defines distinct disease subtypes and reveals hypo-responsiveness to interferon in asymptomatic Waldenstrom's Macroglobulinemia.
Nature communicationsWaldenström's Macroglobulinemia/Lymphoplasmacytic Lymphoma Developing Renal AA Amyloidosis: A Case Report and Literature Review.
Internal medicine (Tokyo, Japan)Two Cases of Prurigo Nodularis in Hematologic Malignancies: Hodgkin Lymphoma and Waldenström Macroglobulinemia.
CureusHyperviscosity syndrome in Waldenström Macroglobulinemia.
TransfusionChemokine Expression in Well-Differentiated Liposarcoma May Be Involved in the Tumorigenesis of Lymphoplasmacytic Lymphoma: A Case Study.
Cancer reports (Hoboken, N.J.)Covalent Bruton tyrosine kinase inhibitors across generations: A focus on zanubrutinib.
Journal of cellular and molecular medicineCentral nervous system involvement in Waldenström macroglobulinemia: a comparative population-based study of Bing-Neel syndrome and histological transformation.
Annals of hematologyExploratory Immunosequencing of an Intracapillary Monoclonal Deposits Disease in a Patient With Subacute Neuro-Renal Syndrome.
Kidney international reportsSteroid-resistant nephrotic syndrome as paraneoplastic syndrome of Waldenström macroglobulinemia: a case report.
CEN case reportsConcomitant Waldenström Macroglobulinemia/Lymphoplasmacytic Lymphoma and Non-Immunoglobulin M Plasma Cell Neoplasm: A Report of 14 Cases With Laboratory Evidence of Biclonal B-Cell Neoplasms in Individual Patients.
Archives of pathology & laboratory medicineA case of lymphoplasmacytic lymphoma/Waldenström macroglobulinemia diagnosed with facial lesions.
The Journal of dermatologyA Rare Case of Chronic Lymphocytic Leukemia Transforming Into Waldenström Macroglobulinemia During Ibrutinib Therapy.
CureusSuccessful treatment of relapsed Waldenström's macroglobulinemia with proteasome inhibitors (bortezomib and subsequently ixazomib) in combination with rituximab and dexamethasone. A case report and review of the of proteasome inhibitors in Waldenström's….
Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnostiThe treatment combination of obinutuzumab, bendamustine and dexamethasone achieved a deeper response than the previous line of treatment in five patients with Waldenström's macroglobulinemia.
Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnostiIgM Flare in Anti-MAG Neuropathy Post Rituximab Treatment: A Clinical Case and a Systematic Review of the Literature.
Brain sciencesOptimal use of BTK inhibitors in Waldenström's macroglobulinemia: combination or single drug approach?
Therapeutic advances in hematologyWaldenström Macroglobulinemia-Induced Cardiac Amyloid Light Chain Amyloidosis.
Ochsner journalMutational Landscape of Bone Marrow CD19 and CD138 Cells in Waldenström Macroglobulinemia (WM) and IgM Monoclonal Gammopathy of Undetermined Significance (IgM MGUS).
Cancer medicineUncovering a lymphoplasmacytic lymphoma/Waldenström macroglobulinemia initially manifesting as dizziness detected through abnormal serum lipemia index: A case report.
MedicineCD23 expression in lymphoplasmacytic lymphoma: Clinical-pathological and biological correlations.
HistopathologySequential Occurrence of Eosinophilic Gastrointestinal Disease in a Case of Waldenström's Macroglobulinemia in Remission: An Unusual Report with Review.
International journal of hematology-oncology and stem cell researchLymphoplasmacytic lymphoma and Waldenström macroglobulinemia, a decade after the discovery of MYD88L265P.
Human pathologyExpanded tumor-associated polymorphonuclear myeloid-derived suppressor cells in Waldenstrom macroglobulinemia display immune suppressive activity.
Blood cancer journalExtramedullary disease in Waldenström macroglobulinemia: A population-based observational study.
EJHaemGLI3 Is Required for M2 Macrophage Polarization and M2-Mediated Waldenström Macroglobulinemia Growth and Survival.
International journal of molecular sciencesMonoclonal Gammopathy-Associated Neuropathy.
Current hematologic malignancy reportsTwo Cases of Macroglobulinemia with Elevated Serum CA125: Case Reports and Literature Review.
Cancer management and researchExpression of MYD88 L265P Mutation in Subtypes of Diffuse Large B-Cell Lymphoma in the Pakistani Population.
Applied immunohistochemistry & molecular morphology : AIMM"Real-Life" Data of Zanubrutinib in Patients with Waldenström Macroglobulinemia: A Multicenter Retrospective Study.
Acta haematologicaMachine learning based on multiplatform tests assists in subtype classification of mature B-cell neoplasms.
British journal of haematologyPeripheral neuropathy in the phase 3 ASPEN study of Bruton tyrosine kinase inhibitors for Waldenström macroglobulinemia.
Blood advancesA comparative analysis of transformed indolent lymphomas and de novo diffuse large B-cell lymphoma: a population-based cohort study.
Blood cancer journalEfficacy and safety of bendamustine, rituximab and bortezomib treatment in relapsed/refractory Waldenstrom Macroglobulinaemia: results of phase 2 single-arm FIL-BRB trial.
British journal of haematologyClinical Spectrum of Monoclonal Protein and the Factors Associated with Lymphoplasmacytic Malignancies.
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Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Macroglobulinemia de Waldenström e no aconselhamento genético da família.
Doenças relacionadas
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Perguntas frequentes
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A condição apresenta padrão de herança multigênico ou multifatorial, não seguindo uma transmissão familiar direta simples. Mutações em genes como o MYD88 desempenham papel biológico fundamental no desenvolvimento das células doentes.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
4 fontes citadas no texto · 10 publicações do grafo RarasNet (PubMed) · 6 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Citar este verbete
Raras. (2026). Macroglobulinemia de Waldenström. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/macroglobulinemia-de-waldenstrom
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Macroglobulinemia de Waldenström
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Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- Codificação WHO/SUS
- fonte: WHO ICD-10 / DATASUS
- CID-11 (futuro)
- fonte: WHO ICD-11
- NIH/GARD
- fonte: GARD (NIH)
- Indexação biomédica
- fonte: MeSH (NLM)
- Dado público estruturado
- fonte: Wikidata
- Ensaios clínicos
- fonte: ClinicalTrials.gov
