Matsumura Risa, Mochizuki Shinji, Morishita Yusuke, Hayakawa Hiroko, Karakawa Shuhei, Kawaguchi Hiroshi, Okada Satoshi, Hyakuna Nobuyuki, Kobayashi Masao
Department of Pediatrics, Hiroshima University Hospital, Hiroshima 734-8551, Japan.
Department of Pediatrics, Kochi University, Kochi 783-8505, Japan.
Hematol Rep. 2024 Feb 26;16(1):98-105. doi: 10.3390/hematolrep16010010.
Severe congenital neutropenia (SCN) is characterized by chronic neutropenia with recurrent infections from early infancy and a predisposition to myelodysplastic syndrome/acute myeloid leukemia (AML). Allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative treatment for patients with SCN who develop myelodysplastic syndrome/AML. We report an 8-year-old girl with SCN carrying an mutation that had been refractory to granulocyte colony-stimulating factor. The patient experienced recurrent infections and then developed AML. The counts of leukemic blasts that harbored both and mutations spontaneously decreased with antimicrobial therapy, leading to partial remission. After AML recurrence, HSCT was successfully performed using modified chemotherapy and a conditioning regimen. Serial donor lymphocyte infusions against mixed chimerism induced complete donor chimerism over 4 years without any infections or AML relapse. This case suggests the importance of carefully managing neutropenia-related infections, leukemia progression, and HSCT in patients with SCN developing AML.
严重先天性中性粒细胞减少症（SCN）的特征是慢性中性粒细胞减少，自婴儿早期起就反复感染，且易患骨髓增生异常综合征/急性髓系白血病（AML）。异基因造血干细胞移植（HSCT）是患有骨髓增生异常综合征/AML的SCN患者的唯一治愈性治疗方法。我们报告了一名8岁患有SCN的女孩，其携带一种对粒细胞集落刺激因子难治的突变。该患者经历了反复感染，随后发展为AML。同时携带两种突变的白血病母细胞计数在抗菌治疗后自发下降，导致部分缓解。AML复发后，使用改良化疗和预处理方案成功进行了HSCT。针对混合嵌合体的系列供体淋巴细胞输注在4年内诱导出完全供体嵌合体，且无任何感染或AML复发。该病例表明，在患有AML的SCN患者中，谨慎管理与中性粒细胞减少相关的感染、白血病进展和HSCT非常重要。
