3例伴有种系CBL变异的JMML兄弟姐妹的临床处理

IF 1.4 4区医学 Q4 GENETICS & HEREDITY

Cancer Genetics Pub Date : 2025-02-19 DOI:10.1016/j.cancergen.2025.02.007

Nihat Bugra Agaoglu , Koray Yalcın , Busra Unal , Gizem Onder , Safiye Suna Celen , Suleimen Zhumatayev , Ugur Ozbek , Ozden Hatirnaz Ng

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引用次数: 0

摘要

在15%的青少年髓细胞白血病（JMML）病例中发现CBL的种系致病变异（pv）。在这里，我们报告了三位患有CBL的兄弟姐妹（NM_005188）： C . 1111t >；C变异，表现出不同的JMML临床和结果。指示病例在7岁时被诊断，而弟弟是10个月大，最小的是1个月大。造血干细胞移植成功，最小的弟弟无事件生存，但老二表现出严重的移植物抗宿主病。这项研究显示了JMML的异质性，以及即使在家庭内部，结果也可能不同。

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Clinical management of three JMML siblings with germline CBL variation

Germline pathogenic variants (PVs) in CBL are found in 15 % of juvenile myelomonocytic leukemia (JMML) cases. Here we report three siblings with CBL(NM_005188):c.1111T>C variation presenting a heterogenous JMML clinic and outcome. The index case was diagnosed at the age of seven, whereas the younger brother was 10 months old and the youngest was one month old. The hematopoietic stem cell transplantation was successful for the index and the youngest brother with event-free survival, but the middle brother showed severe graft versus host disease. This study shows the heterogeneity of JMML and how the outcome might differ even within the family.

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来源期刊

Cancer Genetics ONCOLOGY-GENETICS & HEREDITY

CiteScore

3.20

自引率

5.30%

发文量

167

审稿时长

27 days

期刊介绍： The aim of Cancer Genetics is to publish high quality scientific papers on the cellular, genetic and molecular aspects of cancer, including cancer predisposition and clinical diagnostic applications. Specific areas of interest include descriptions of new chromosomal, molecular or epigenetic alterations in benign and malignant diseases; novel laboratory approaches for identification and characterization of chromosomal rearrangements or genomic alterations in cancer cells; correlation of genetic changes with pathology and clinical presentation; and the molecular genetics of cancer predisposition. To reach a basic science and clinical multidisciplinary audience, we welcome original full-length articles, reviews, meeting summaries, brief reports, and letters to the editor.