一名携带胚系CEBPA变异的患者同时发生多发性骨髓瘤和急性髓系白血病。拓展遗传性血液系统恶性肿瘤的谱带。
Unusual Co-Occurrence of Multiple Myeloma and AML in a Patient With Germline CEBPA Variant. Expanding the Spectrum of Hereditary Hematologic Malignancies.
作者信息
Spangenberg María Noel, Boada Matilde, Ottati Carolina, Vázquez Lucia, Catalán Ana, Grille Sofia
机构信息
Laboratorio de Citometría y Biología Molecular, Hospital de Clínicas, Universidad de la República, Montevideo, Uruguay.
Unidad Académica de Hematología, Hospital de Clínicas, Universidad de la Republica, Montevideo, Uruguay.
出版信息
Clin Genet. 2025 May;107(5):576-578. doi: 10.1111/cge.14693. Epub 2025 Jan 12.
PMID:39800668
Abstract
Timeline and genetic analysis of a 55-year-old female with a family history of gastric cancer and multiple myeloma, who was diagnosed with AML and a germline CEBPA variant.
摘要
一名有胃癌和多发性骨髓瘤家族史的55岁女性的时间线及基因分析，该女性被诊断为急性髓系白血病且存在种系CEBPA变异。
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