Université de Sousse, UR Biologie moléculaire des leucémies et lymphomes, Faculté de médecine de Sousse, Sousse, Tunisia; Departement of Biology, College of Science, University of Hail, Hail, Saudi Arabia.
Departement of Biology, College of Science, University of Hail, Hail, Saudi Arabia.
Bull Cancer. 2021 Jul-Aug;108(7-8):718-724. doi: 10.1016/j.bulcan.2021.03.013. Epub 2021 May 26.
Genetic predisposition has been always noted in the context of familial hematological malignancies. Epidemiological studies have provided evidence consisting of an increased risk to develop blood cancer in relatives diagnosed with the same pathology and characterized by early age at diagnosis and higher severity compared to sporadic forms. With the emergence of new genomic testing approaches, the prevalence of familial aggregations of hematological malignancies seems to be under estimated. The heterogeneity of clinical features explains the wide number of genes' mutations reported to date and the variable penetrance of variants. Nevertheless, the genetic basis of familial hematological malignancies is still not well understood. Identifying the genetic background in familial aggregations provides a valuable tool for prognostic evaluation, personalized treatment and better genetic counseling in high-risk families. Herein, we provide an overview of genes reported in the last few years in association to hematological malignancies including familial form of Hodgkin Lymphoma, Non-Hodgkin Lymphoma, Chronic Lymphocytic Leukemia, acute Myeloid Leukemia and acute Lymphoblastic Leukemia.
遗传易感性在家族性血液恶性肿瘤的背景下一直受到关注。流行病学研究提供了证据,表明与散发性疾病相比,同一家系中被诊断出患有相同病理且发病年龄较早、严重程度较高的患者,发生血液癌的风险增加。随着新的基因组检测方法的出现,家族性血液恶性肿瘤的聚集似乎被低估了。临床特征的异质性解释了迄今为止报告的基因突变数量众多和变异的可变外显率。然而,家族性血液恶性肿瘤的遗传基础仍未得到很好的理解。确定家族聚集中的遗传背景为预后评估、个体化治疗和高危家庭的遗传咨询提供了有价值的工具。在此,我们综述了近年来与血液恶性肿瘤相关的基因,包括霍奇金淋巴瘤、非霍奇金淋巴瘤、慢性淋巴细胞白血病、急性髓系白血病和急性淋巴细胞白血病的家族形式。