一种系CEBPA变异患者多发性骨髓瘤和急性髓系白血病的罕见共存。扩大遗传性血液恶性肿瘤的范围。

IF 2.9 3区医学 Q2 GENETICS & HEREDITY

Clinical Genetics Pub Date : 2025-01-12 DOI:10.1111/cge.14693

María Noel Spangenberg, Matilde Boada, Carolina Ottati, Lucia Vázquez, Ana Catalán, Sofia Grille

引用次数: 0

摘要

一名55岁女性，有胃癌和多发性骨髓瘤家族史，诊断为急性髓系白血病和种系CEBPA变异。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Unusual Co-Occurrence of Multiple Myeloma and AML in a Patient With Germline CEBPA Variant. Expanding the Spectrum of Hereditary Hematologic Malignancies.

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.

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来源期刊

Clinical Genetics 医学-遗传学

CiteScore

6.50

自引率

0.00%

发文量

175

审稿时长

3-8 weeks

期刊介绍： Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice. Topics of particular interest are: • Linking genetic variations to disease • Genome rearrangements and disease • Epigenetics and disease • The translation of genotype to phenotype • Genetics of complex disease • Management/intervention of genetic diseases • Novel therapies for genetic diseases • Developmental biology, as it relates to clinical genetics • Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease