Myelodysplastic syndrome and autoimmune disorders: two sides of the same coin?

DeZern, Amy E.

doi:10.1016/s2352-3026(22)00138-7

Cited by 20 publications

(17 citation statements)

References 71 publications

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“…There is considerable evidence implicating immune dysregulation as one of the factors predisposing to MDS, and 10% to 30% of patients with MDS have a comorbid autoimmune disease. 53 Immunosuppressive therapy (IST) is infrequently used in clinical practice for MDS, although there may be a role, particularly in cases with a hypocellular marrow phenotype similar to aplastic anemia. Approximately 20% of patients with MDS have a detectable PNH clone, and these patients have statistically higher IST response rates.…”

Section: Immunosuppressionmentioning

confidence: 99%

The Management of Low-Risk Myelodysplastic Syndromes—Current Standards and Recent Advances

Randall

DeZern

2023

Cancer J

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The myelodysplastic syndromes (MDSs) are a heterogeneous group of hematologic neoplasms with varied natural histories and prognoses. Specific to this review, treatment of low-risk MDS most often focuses on improving quality of life by correcting cytopenias, as opposed to urgent disease modification to avoid acute myeloid leukemia. These treatments include transfusion support with iron chelation when necessary, growth factors including novel maturation agents such as luspatercept, lenalidomide for del(5q) disease, and, increasingly, low-dose hypomethylating agents. Recent advances in the understanding of the genetic lesions that drive MDS have prompted a reassessment of how low-risk disease is defined and helped to identify a subset of low-risk MDS patients who may benefit from a more aggressive treatment paradigm, including hematopoietic stem cell transplantation.

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Section: Immunosuppressionmentioning

confidence: 99%

The Management of Low-Risk Myelodysplastic Syndromes—Current Standards and Recent Advances

Randall

DeZern

2023

Cancer J

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“…[5] MDS is often associated with autoimmunity and inflammation to such an extent that MDS and autoimmune disorders may be 2 sides of the same coin. [6] Dysregulation of the immunological environment and impaired levels of the inflammatory cytokines, such as tumor necrosis factor-α, interferon-γ, interleukin (IL)-6, IL-8, and IL-17 both seem to contribute, to some point, to the pathogenesis of the disease. [7] Until recently, a novelty in the MDS landscape appeared and confirmed that MDS and autoimmunity can both be attributed to a single somatic mutation.…”

Section: Introductionmentioning

confidence: 99%

Case report of a patient with VEXAS syndrome

Tsourveloudis,

Georgiadi,

Vatalis

et al. 2023

Medicine

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Rationale: Hematological malignancies have always been a challenge for scientists because there is a constant need to better define these entities. Myelodysplastic syndromes (MDS) are clonal hematopoietic disorders characterized by ineffective hematopoiesis. Cytogenetics and molecular findings are a prerequisite for these syndromes as they confirm the clonal nature of the disease. However, MDS is often linked to autoimmunity and inflammation as part of its pathogenesis. Recently, VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) linked these two in a single mutation, suggesting that the heterogeneity among hematological malignancies often demands a more personalized medicine by tailoring medical treatment to the individual characteristics of each patient. Patient concerns: We present a case of VEXAS syndrome regarding a 63-year-old male patient who initially presented with episodes of low fever, polyarthritis of the knees and ankles, polymyalgia, and fatigue. His laboratory examinations revealed increased levels of serum inflammatory markers. Diagnoses: Diagnosis was based on high clinical suspicion, laboratory findings, and vacuolization of the erythroid and myeloid precursors in the bone marrow evaluation. Mutational status of ubiquitin-like modifier activating enzyme 1 gene was positive with a 68.8% allelomorph frequency (rs782416867). Interventions: Therapy was based on controlling inflammation with the use of glucocorticoids and treating MDS-related anemia with the use of erythropoietin. Outcomes: Currently, the patient visits our department regularly. He is still receiving the aforementioned treatment. He did not mention any new incidents for the time being. Lessons: VEXAS syndrome as a newly identified entity might be often underestimated since its clinical presentation is notably diverse.

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“…Autoimmune and inflammatory conditions have been reported in up to 30% of patients with myelodysplastic syndromes (MDS) (6) where multi-organ consequences may not be recognised as readily as in the MPNs. Sensitive and reproducible assessment of organ impairment is central to optimal stratification, prognostication and treatment selection in these patient groups.…”

Section: Introductionmentioning

confidence: 99%

Multiparametric MRI detects multi-organ impairment in patients with chronic myeloid neoplasms with normal serum biomarkers

Reed,

Diamond,

Mahmood

et al. 2023

Preprint

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Assessment of organ impairment in patients with chronic myeloid neoplasms is pivotal in selecting treatments and for accurate prognostication of patient outcomes. In order to determine the multi-organ health of patients with chronic myeloid neoplasms, we conducted a prospective, observational study utilising a novel MRI technology which quantitatively assesses the health of multiple organs in one scan. Organ impairment was significantly higher in the patient cohort compared to healthy controls, most notably with increased rates of kidney fibroinflammation 28% vs 0% (p-value = 0.002). MRI-defined kidney impairment was prevalent in patients with normal serum biomarkers of kidney disease, demonstrating the added value of MRI as a tool to identify occult organ impairment. This has wider implications for enhancing the assessment of organ health in patients with a variety of blood cancers at diagnosis and throughout treatment, guiding more personalised strategies and improving patient outcomes.

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Myelodysplastic syndrome and autoimmune disorders: two sides of the same coin?

Cited by 20 publications

References 71 publications

The Management of Low-Risk Myelodysplastic Syndromes—Current Standards and Recent Advances

The Management of Low-Risk Myelodysplastic Syndromes—Current Standards and Recent Advances

Case report of a patient with VEXAS syndrome

Multiparametric MRI detects multi-organ impairment in patients with chronic myeloid neoplasms with normal serum biomarkers

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