两代原发性纵隔大 B 细胞淋巴瘤家族表现的遗传因素

IF 3.5 4区 医学 Q3 CELL BIOLOGY Pathobiology Pub Date : 2023-01-01 Epub Date: 2023-07-25 DOI:10.1159/000532053
Darius Juskevicius, Pontus Lundberg, Alexandar Tzankov, Stefan Dirnhofer, Frank Stenner
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引用次数: 0

摘要

简介原发性纵隔大B细胞淋巴瘤(PMBL)是一种罕见的淋巴恶性肿瘤,通常发生在青壮年身上,表现为前纵隔肿块。基因表达谱分析和体细胞基因分析表明,它与典型的霍奇金淋巴瘤密切相关,而在形态上,它往往与弥漫大 B 细胞淋巴瘤相似。PMBL 的家族聚集性非常罕见,迄今只发表过两篇报告。尽管人们普遍认为阳性家族史与淋巴瘤发病风险的增加有关,但可能导致PMBL的遗传风险因素在很大程度上还不为人所知:我们通过全外显子组测序和阵列-CGH对一个家族进行了种系和肿瘤基因分析,在这个家族中,父亲和儿子都患上了PMBL。对两个患者及其两个未受影响的家庭成员进行的种系调查未能发现与淋巴瘤易感性相关的单一风险因素。此外,在所有接受调查的家庭成员中,以前被认为与 PMBL 风险增加有关的基因,即 MLL (KMT2A) 和 TIRAP,均未被发现。体细胞遗传学调查在患病者的肿瘤中发现了已知和新的基因畸变:我们的结论是,PMBL 易感性可能是通过低度或中度风险因素的组合而遗传的,并提供了一份最有可能被选中的候选者名单,可用于未来的研究。
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Genetic Factors in Familial Manifestation of Primary Mediastinal Large B-Cell Lymphoma over Two Generations.

Introduction: Primary mediastinal large B-cell lymphoma (PMBL) is a rarely occurring lymphoid malignancy which typically affects young adults and presents itself as an anterior mediastinal mass. Gene expression profiling as well as somatic genetic analysis revealed that it is closely related to classical Hodgkin lymphoma, whereas morphologically, it tends to resemble diffuse large B-cell lymphoma. Familial clustering of PMBL is rare - only two reports have been published to date. While it is generally accepted that positive family history is associated with increased risk of developing a lymphoma, genetic risk factors which might predispose to PMBL are largely unknown.

Case presentation: We performed germline and tumor genetic analyses by whole-exome sequencing and array-CGH of a family, in which the father and the son both developed a PMBL. Germline investigations of both affected patients and of their two unaffected family members have not been able to provide a single risk factor associated with lymphoma predisposition. In addition, genes that were previously implicated in increased risk for PMBL, namely MLL (KMT2A) and TIRAP, were found to be intact in all investigated family members. Somatic genetic investigations identified known as well as novel genetic aberrations in tumors of the affected subjects.

Conclusion: We conclude that predisposition to a PMBL might be inherited through a combination of low- or moderate-risk factors and provide a shortlist of the most likely selected candidates, which can be used in future studies.

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来源期刊
Pathobiology
Pathobiology 医学-病理学
CiteScore
8.50
自引率
0.00%
发文量
47
审稿时长
>12 weeks
期刊介绍: ''Pathobiology'' offers a valuable platform for the publication of high-quality original research into the mechanisms underlying human disease. Aiming to serve as a bridge between basic biomedical research and clinical medicine, the journal welcomes articles from scientific areas such as pathology, oncology, anatomy, virology, internal medicine, surgery, cell and molecular biology, and immunology. Published bimonthly, ''Pathobiology'' features original research papers and reviews on translational research. The journal offers the possibility to publish proceedings of meetings dedicated to one particular topic.
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