Evidence map›Paper›PMID 42107927›Full record

ArticleEuropean journal of haematology2026

Assessing the Frequency of VEXAS-Related Canonical UBA1 Mutations in Myelodysplastic Syndrome Patients.

Hadis Soleimanzadeh, Mohammadjafar Sharifi, Mansoureh Shokripour, Jamileh Saberzadeh, Mani Ramzi, Pardis Nematollahi, Nahid Nasiri

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Article in European journal of haematology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

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4 · The record

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5 · Who and what money

Authors and funding

7 authors.

Hadis SoleimanzadehDivision of Hematology and Blood Bank, Department of Laboratory Sciences, School of Paramedical Sciences, Shiraz University of Medical Sciences, Shiraz, Iran.ORCID https://orcid.org/0009-0003-4787-6923
Mohammadjafar SharifiDivision of Hematology and Blood Bank, Department of Laboratory Sciences, School of Paramedical Sciences, Shiraz University of Medical Sciences, Shiraz, Iran.ORCID https://orcid.org/0000-0003-0719-8294
Mansoureh ShokripourDepartment of Pathology, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
Jamileh SaberzadehDiagnostic Laboratory Sciences and Technology Research Center, School of Paramedical Sciences, Shiraz University of Medical Sciences, Shiraz, Iran.
Mani RamziHematology Research Center, Department of Hematology and Medical Oncology, Shiraz University of Medical Sciences, Shiraz, Iran.
Pardis NematollahiDepartment of Pathology, School of Medicine, Cancer Prevention Research Center, Seyyed Al-Shohada Hospital, Isfahan University of Medical Science, Isfahan, Iran.
Nahid NasiriDivision of Hematology and Blood Bank, Department of Laboratory Sciences, School of Paramedical Sciences, Shiraz University of Medical Sciences, Shiraz, Iran.

Funding

Shiraz University of Medical Sciences 28314
6 · The paper itself

Abstract

objectivesSomatic mutations in the UBA1 gene cause VEXAS syndrome, which presents with inflammatory and hematological symptoms. Case studies show a strong overlap between VEXAS and myelodysplastic syndrome (MDS). Recognizing VEXAS is important for differential diagnosis in patients with both inflammation and MDS, as accurate identification guides treatment. The study focuses on determining how often canonical UBA1 mutations linked to VEXAS occur in MDS patients.

methodsPatients diagnosed with MDS were enrolled in the study, and genomic DNA was isolated from bone marrow FFPE samples. Molecular analysis was performed using a specifically designed ARMS-PCR approach. Additionally, protein-protein interaction (PPI) studies combined with bioinformatic analyses were carried out to explore potential links between UBA1 and pyroptosis.

resultsAmong the 149 MDS patients analyzed, none exhibited high-Variant Allele Frequency (VAF) the canonical UBA1 point mutations linked to VEXAS syndrome. PPI analysis revealed a possible association between UBA1 and the NLRP3 inflammasome component.

conclusionsExpanding the sample size and using targeted NGS or ddPCR would improve mutation detection sensitivity and could reveal UBA1 canonical and non-canonical variants and more accurately estimate the frequency of VEXAS-related mutations in the MDS population.

Indexed as

MutationMyelodysplastic SyndromesUbiquitin-Activating EnzymesAdultAgedAged, 80 and overAllelesDNA Mutational AnalysisFemaleGene FrequencyGenetic Association StudiesGenetic Predisposition to DiseaseHumansMaleMiddle AgedSkin Diseases, GeneticUBA1 protein, humanUbiquitin-Activating EnzymesARMS‐PCRmyelodysplastic syndromeUBA1ubiquitinationVEXAS syndrome

Identifiers

PMID42107927
PMCPMC13542873

What Socratic holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.