Autoimmune disease in CMML-the chicken or the egg?

Ambinder, Alexander J.; Miller, John B.; DeZern, Amy E.

doi:10.1016/j.beha.2019.101136

Cited by 18 publications

(22 citation statements)

References 60 publications

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“…Chronic inflammation thus drives clonal selection, dominance, and independence, resulting in myeloid malignancies. 21,22 Marrow failure is probably mediated by autoimmunity in some MDS subtypes, wherein immunosuppressive therapy has been successfully employed. Conversely, CMML may predispose patients to SIADS, through cytokine production by monocytes (interleukin (IL)-6, tumor necrosis factor-α, interferon regulatory factor-1) or by abnormality of immune population in MDS/CMML.…”

Section: Discussionmentioning

confidence: 99%

“…TET2 loss is associated with increased expression of IL-1a, IL-6, and arginase-1 by macrophages. 21,[23][24][25][26] Polyserositis is less common and thus less well studied. Polyserositis can result from malignant infiltration or alternatively from inflammation.…”

Section: Discussionmentioning

confidence: 99%

“…TET2 loss is associated with increased expression of IL-1a, IL-6, and arginase-1 by macrophages. 21,23-26…”

Section: Discussionmentioning

confidence: 99%

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Chronic Myelomonocytic Leukemia Presenting With Polyserositis and Seropositivity for Rheumatoid Arthritis

Kunnumpurath

Desikan

McClain

2020

Journal of Investigative Medicine High Impact Case Reports

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Chronic myelomonocytic leukemia (CMML) is a rare clonal stem cell disorder associated with clinical and pathologic of myelodysplasia and myeloproliferation. Systemic autoimmune/inflammatory disorders (SAID) and polyserositis have been associated with CMML. These manifestations can be observed concomitantly, shortly before diagnosis or anytime along the course of illness. We report a case of myeloproliferative CMML who presented with polyserositis and positive serology for rheumatoid arthritis. Retrospective studies of myelodysplasia/CMML have reported 15% to 25% incidence of SAID. The most commonly observed disorders include systemic vasculitis, connective tissue diseases, polychondritis, seronegative arthritis, and immune thrombocytopenia. SAID does not confer adverse prognosis in retrospective studies. Polyserositis is less common; this may result from leukemic infiltrate or result from autoimmunity. Treatment of serositis includes steroids and cytoreductive agents. Serositis may confer poor prognosis and hypomethylating therapy may improve the outcome.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Chronic Myelomonocytic Leukemia Presenting With Polyserositis and Seropositivity for Rheumatoid Arthritis

Kunnumpurath

Desikan

McClain

2020

Journal of Investigative Medicine High Impact Case Reports

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“…With an incidence of between 10 and 20%, the immunological sequelae of CMML and MDS are now appreciated to be a significant source of morbidity in this population [4] A recent French retrospective study demonstrated significant heterogeneity in the nature of systemic inflammatory diseases associated with CMML/MDS [3]. Notably the authors identified that CMML/MDS patients with systemic inflammatory and autoimmune diseases were more likely to have adverse risk prognostic features than controls.…”

Section: Discussionmentioning

confidence: 99%

“…It is the most common subtype of the myelodysplastic (MDS) and myeloproliferative neoplasm (MPN) overlap syndromes and has markedly a heterogenous clinical phenotype [1]. There is increasing recognition of the impact that CMML has on the patient’s immune milieu [2-4].…”

Section: Introductionmentioning

confidence: 99%

Acquired Pure Red Cell Aplasia Associated with Chronic Myelomonocytic Leukemia: Too Many of One, Not Enough of the Other

Gonsalves¹,

Bazargan²,

Ku³

2020

Case Rep Oncol

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There is a growing body of literature outlining the association between certain hematological malignancies, such as chronic myelomonocytic leukemia (CMML), and systemic autoimmune diseases. Diagnosis and management can be difficult, particularly when autoimmune phenomena overlap with features of the underlying illness. This is especially the case in patients who develop immune-mediated cytopenias in the context of underlying bone marrow disease. CMML associated with immune thrombocytopenia and hemolytic anemia has been reported a number of times in the literature; however, there are only scattered case reports describing CMML associated with acquired pure red cell aplasia. Here, we describe the diagnostic and management approach to a patient who developed both diseases.

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Cutaneous Langerhans cell histiocytosis and other systemic inflammatory or autoimmune disease manifestations in the setting of clonal hematopoiesis

George,

Liesveld,

El Hussein

et al. 2024

eJHaem

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The clinical manifestations and pathophysiology of clonal hematopoiesis (CH)‐associated immunological dysfunction are poorly understood. We describe an elderly woman with CH who developed various systemic inflammatory or autoimmune diseases (SIADs), including cutaneous Langerhans cell histiocytosis (LCH) and temporal arteritis. Sequencing of the LCH revealed somatic oncogenic mutations in MAP2K1, IDH2, and SRSF2, with enrichment of the latter two in her peripheral blood at high allele frequencies. These findings raise concern for the future development of a myeloid malignancy. Given the mounting evidence for adult‐onset autoinflammatory conditions caused by somatic blood mutations, we suspect CH‐mediated immune dysregulation is contributing to her multi‐organ involvement by a combination of SIADs.

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Autoimmune disease in CMML-the chicken or the egg?

Cited by 18 publications

References 60 publications

Chronic Myelomonocytic Leukemia Presenting With Polyserositis and Seropositivity for Rheumatoid Arthritis

Chronic Myelomonocytic Leukemia Presenting With Polyserositis and Seropositivity for Rheumatoid Arthritis

Acquired Pure Red Cell Aplasia Associated with Chronic Myelomonocytic Leukemia: Too Many of One, Not Enough of the Other

Cutaneous Langerhans cell histiocytosis and other systemic inflammatory or autoimmune disease manifestations in the setting of clonal hematopoiesis

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