Year: 2024
Type: article
Abstract: Introduction VEXAS syndrome is a rare condition characterized by somatic mutations in the ubiquitin‐like modifier activating enzyme 1 (UBA1) gene and a constellation of clinical/morphologic findings, including the presence of cytoplasmic vacuoles within bone marrow hematopoietic cells. Methods and objectives In this report, we present a case of a male patient diagnosed with VEXAS‐associated myelodysplastic syndrome following the detection of a non‐canonical UBA1 p.Gly477Ala variant whose bone marrow biopsy revealed a conspicuous absence of cytoplasmic vacuolization in hematopoietic cells. This case prompts a comprehensive review of the existing literature on the significance and pathobiology of vacuolization in the context of VEXAS and UBA1 mutations.
Source: eJHaem
DOI: 10.1002/jha2.1016
Institutions: University of Utah, Huntsman Cancer Institute
Language: English
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $2,600
Award: G5068792975
OpenAlex ID: W4403146591