Abstract：
The number of predisposing genes is continuously growing with the widespread availability of DNA sequencing, increasing the prevalence of hematologic malignancies with germline predisposition. Cytogenetic analyses provide an effective approach for the recognition of these malignancies with germline predisposition, which is critical for proper diagnosis, optimal treatment and genetic counseling. Based on the World Health Organization and the international consensus classifications as well as the European LeukemiaNet recommendations, this review first presents an advanced classification of neoplasms with germline predisposition focused on the acquired cytogenetic alterations during leukemogenesis. The various genetic rescue mechanisms and the progression to transformation are then explained. The review also outlines the specific constitutional and somatic cytogenetic aberrations indicative of germline predisposition disorders in B-acute lymphoblastic leukemia (ALL), T-ALL, bone marrow failure syndrome and myeloid neoplasms. An emphasis is made on monosomy 7 in the predisposition field, its frequency and diagnosis impact as well as its various circumstances of occurrence. Lastly, we propose cytogenetic technical recommendations and guidelines for clinical reporting of these specific aberrations.
摘要：
随着DNA测序的普及，易感基因的数量不断增加，增加血液系统恶性肿瘤与种系易感性的患病率。细胞遗传学分析为识别这些具有种系易感性的恶性肿瘤提供了有效的方法，这对正确诊断至关重要，最佳治疗和遗传咨询。根据世界卫生组织和国际共识分类以及欧洲白血病网的建议，这篇综述首先介绍了具有种系易感性的肿瘤的高级分类，重点是白血病发生过程中的获得性细胞遗传学改变。然后解释了各种遗传挽救机制和转化的进展。该综述还概述了B急性淋巴细胞白血病（ALL）中指示种系易感性疾病的特定体质和体细胞遗传学畸变，T-ALL,骨髓衰竭综合征和髓样肿瘤。在易感性领域强调了7号单体，它的频率和诊断影响以及它发生的各种情况。最后,我们为这些特异性畸变的临床报告提出了细胞遗传学技术建议和指南.
