VEXAS without vacuoles: Linking genotype to phenotype

EJHaem Pub Date : 2024-10-05 DOI:10.1002/jha2.1016

Sara Zhukovsky, Anton Rets, Tawnie Braaten, Ami B. Patel

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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.

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无空泡的 VEXAS：将基因型与表型联系起来

导言 VEXAS 综合征是一种罕见的疾病，其特征是泛素样修饰激活酶 1（UBA1）基因的体细胞突变和一系列临床/形态学发现，包括骨髓造血细胞内出现细胞质空泡。方法和目的在本报告中，我们介绍了一例男性患者的病例，该患者被诊断为 VEXAS 相关骨髓增生异常综合征，其骨髓活检结果显示造血细胞中明显缺乏胞浆空泡化，在检测到非典型 UBA1 p.Gly477Ala 变异后，该患者被诊断为 VEXAS 相关骨髓增生异常综合征。该病例促使我们对现有文献进行全面回顾，了解空泡化在 VEXAS 和 UBA1 突变背景下的意义和病理生物学。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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EJHaem

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