Division of Hematology-Oncology, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO.
Division of Oncology, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO.
Hematology Am Soc Hematol Educ Program. 2021 Dec 10;2021(1):514-520. doi: 10.1182/hematology.2021000286.
A common feature of both congenital and acquired forms of bone marrow failure is an increased risk of developing acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS). Indeed, the development of MDS or AML is now the major cause of mortality in patients with congenital neutropenia. Thus, there is a pressing clinical need to develop better strategies to prevent, diagnose early, and treat MDS/AML in patients with congenital neutropenia and other bone marrow failure syndromes. Here, we discuss recent data characterizing clonal hematopoiesis and progression to myeloid malignancy in congenital neutropenia, focusing on severe congenital neutropenia (SCN) and Shwachman-Diamond syndrome. We summarize recent studies showing excellent outcomes after allogenic hematopoietic stem cell transplantation for many (but not all) patients with congenital neutropenia, including patients with SCN with active myeloid malignancy who underwent transplantation. Finally, we discuss how these new data inform the current clinical management of patients with congenital neutropenia.
先天性和获得性骨髓衰竭的一个共同特征是急性髓系白血病 (AML) 或骨髓增生异常综合征 (MDS) 的发病风险增加。事实上，MDS 或 AML 的发展现在是导致先天性中性粒细胞减少症患者死亡的主要原因。因此，迫切需要制定更好的策略来预防、早期诊断和治疗先天性中性粒细胞减少症和其他骨髓衰竭综合征患者的 MDS/AML。在这里，我们讨论了最近描述先天性中性粒细胞减少症中克隆性造血和向髓系恶性肿瘤进展的数据，重点关注严重先天性中性粒细胞减少症 (SCN) 和 Shwachman-Diamond 综合征。我们总结了最近的研究，这些研究显示，对于许多（但不是全部）先天性中性粒细胞减少症患者，包括接受过有活性髓系恶性肿瘤移植的 SCN 患者，同种异体造血干细胞移植后的结果非常出色。最后，我们讨论了这些新数据如何为先天性中性粒细胞减少症患者的当前临床管理提供信息。
