A clinical, histopathological, and molecular study of two cases of VEXAS syndrome without a definitive myeloid neoplasm.
Peng LiShobi VenkatachalamDaniela Ospina CardonaLorena WilsonTibor J KovacsovicsKaren A MoserRodney R MilesDavid B BeckTracy I GeorgeSrinivas K TantravahiPublished in: Blood advances (2021)
VEXAS (vacuoles, E1 enzyme, X- linked, autoinflammatory, somatic) syndrome is caused by somatic mutations in UBA1 and is identified using a genotype-driven method. This condition connects unrelated men with adult-onset inflammatory syndromes in association with hematologic manifestations of peripheral cytopenia and bone marrow myeloid dysplasia. While bone marrow vacuolization restricted to myeloid and erythroid precursors has been identified in VEXAS patients, the detailed clinical and histopathological features of peripheral blood and bone marrows remain unclear. The current case report describes the characteristic hematologic findings in patients with VEXAS, including macrocytic anemia, thrombocytopenia, marked hypercellular marrow with granulocytic hyperplasia, megaloblastic changes in erythroid precursors, and the absence of hematogones in addition to prominent vacuoles in myeloid and erythroid precursor cells. Characterizing the clinical and hematologic features helps to raise awareness and improve diagnosis of this novel, rare, but potentially under-recognized disease. Prompt diagnosis expands the general knowledgeable and understanding of this disease, and optimal management might prevent patients from developing complications related to this refractory inflammatory syndrome and improve the overall clinical outcome.
Keyphrases
- bone marrow
- end stage renal disease
- case report
- chronic kidney disease
- dendritic cells
- ejection fraction
- acute myeloid leukemia
- newly diagnosed
- mesenchymal stem cells
- peripheral blood
- oxidative stress
- peritoneal dialysis
- gene expression
- prognostic factors
- immune response
- induced apoptosis
- squamous cell carcinoma
- body composition
- single molecule
- cell proliferation
- high grade
- postmenopausal women
- cell cycle arrest