无空泡的 VEXAS:将基因型与表型联系起来

EJHaem Pub Date : 2024-10-05 DOI:10.1002/jha2.1016
Sara Zhukovsky, Anton Rets, Tawnie Braaten, Ami B. Patel
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引用次数: 0

摘要

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。

VEXAS without vacuoles: Linking genotype to phenotype

VEXAS without vacuoles: Linking genotype to phenotype

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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