Donadieu Jean, Beaupain Blandine, Fenneteau Odile, Bellanné-Chantelot Christine
Service d'Hémato Oncologie Pédiatrique, Registre des neutropénies congénitales, AP-HP Hopital Trousseau, Paris, France.
Laboratoire d'Hématologie, AP-HP Hôpital S Robert Debré, Paris, France.
Br J Haematol. 2017 Nov;179(4):557-574. doi: 10.1111/bjh.14887. Epub 2017 Sep 6.
This review focuses on the classification, diagnosis and natural history of congenital neutropenia (CN). CN encompasses a number of genetic disorders with chronic neutropenia and, for some, affecting other organ systems, such as the pancreas, central nervous system, heart, bone and skin. To date, 24 distinct genes have been associated with CN. The number of genes involved makes gene screening difficult. This can be solved by next-generation sequencing (NGS) of targeted gene panels. One of the major complications of CN is spontaneous leukaemia, which is preceded by clonal somatic evolution, and can be screened by a targeted NGS panel focused on somatic events.
本综述聚焦于先天性中性粒细胞减少症（CN）的分类、诊断及自然病史。CN涵盖多种伴有慢性中性粒细胞减少症的遗传性疾病，部分疾病还会影响其他器官系统，如胰腺、中枢神经系统、心脏、骨骼和皮肤。迄今为止，已有24种不同基因与CN相关联。所涉及基因数量众多，使得基因筛查困难重重。这一问题可通过靶向基因panel的二代测序（NGS）来解决。CN的主要并发症之一是自发性白血病，其发生之前会有克隆性体细胞进化，可通过聚焦于体细胞事件的靶向NGS panel进行筛查。
