When Inflammation Mimics Malignancy: Recognizing VEXAS Syndrome in Oncology Practice.

Area of Science:

• Hematology
• Oncology
• Immunology

Background:

• VEXAS syndrome is a clonal hematoinflammatory disorder linked to somatic UBA1 gene mutations.
• It presents with cytopenias and systemic inflammation, overlapping with MDS and other hematologic conditions.
• Delayed diagnosis is common due to overlapping symptoms with malignancy and treatment toxicity.

Purpose of the Study:

• To synthesize current knowledge on VEXAS syndrome pathogenesis, clinical features, and diagnosis.
• To highlight findings relevant to hematology and oncology practice.
• To emphasize the importance of UBA1 testing for early diagnosis.

Main Methods:

• Narrative synthesis of published clinical studies.
• Review of cohort analyses and molecular investigations.
• Focus on VEXAS syndrome pathogenesis, hematologic, and diagnostic features.

Main Results:

• VEXAS syndrome affects men >50 years, characterized by UBA1 mutations causing myeloid inflammation and bone marrow dysfunction.
• Hematologic findings include macrocytic anemia, thrombocytopenia, and cytopenias, often with MDS or plasma cell dyscrasias.
• Systemic inflammation involves skin, lungs, joints, vasculature; fever and VTE are common.

Conclusions:

• VEXAS syndrome is a clonal hematoinflammatory disorder at the nexus of hematology, oncology, and immunology.
• Unexplained cytopenias with systemic inflammation warrant UBA1 testing.
• Early diagnosis and multidisciplinary management are essential for affected individuals.