Pediatric Hematology and Oncology Unit, Department of Mother and Child, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.
Pediatric Hematology and Oncology Unit, Department of Mother and Child, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.
J Pediatr. 2020 Apr;219:196-201.e1. doi: 10.1016/j.jpeds.2019.12.041. Epub 2020 Feb 6.
To describe the hematologic outcome and long-term survival of patients enrolled in the Shwachman-Diamond syndrome Italian Registry.
A retrospective and prospective study of patients recorded in the Shwachman-Diamond syndrome Italian Registry.
The study population included 121 patients, 69 males and 52 females, diagnosed between 1999 and 2018. All patients had the clinical diagnosis confirmed by mutational analysis on the SBDS gene. During the study period, the incidence of SDS was 1 in 153 000 births. The median age of patients with SDS at diagnosis was 1.3 years (range, 0-35.6 years). At the first hematologic assessment, severe neutropenia was present in 25.8%, thrombocytopenia in 25.5%, and anemia in 4.6% of patients. A normal karyotype was found in 40 of 79 patients, assessed whereas the most frequent cytogenetic abnormalities were isochromosome 7 and interstitial deletion of the long arm of chromosome 20. The cumulative incidence of severe neutropenia, thrombocytopenia, and anemia at 30 years of age were 59.9%, 66.8%, and 20.2%, respectively. The 20-year cumulative incidence of myelodysplastic syndrome/leukemia and of bone marrow failure/severe cytopenia was 9.8% and 9.9%, respectively. Fifteen of 121 patients (12.4%) underwent allogeneic stem cell transplantation. Fifteen patients (12.4%) died; the probability of overall survival at 10 and 20 years was 95.7% and 87.4%, respectively.
Despite an improvement in survival, hematologic complications still cause death in patients with SDS. Further studies are needed to optimize type and modality of hematopoietic stem cell transplantation and to assess the long-term outcome in nontransplanted patients.
描述入组 Shwachman-Diamond 综合征意大利注册研究的患者的血液学结果和长期生存情况。
对 Shwachman-Diamond 综合征意大利注册研究中记录的患者进行回顾性和前瞻性研究。
研究人群包括 121 例患者，其中男 69 例，女 52 例，诊断时间为 1999 年至 2018 年。所有患者均通过 SBDS 基因突变分析确认临床诊断。研究期间，SDS 的发病率为每 153000 例出生 1 例。SDS 患者诊断时的中位年龄为 1.3 岁（范围，0-35.6 岁）。首次血液学评估时，25.8%的患者存在严重中性粒细胞减少症，25.5%的患者存在血小板减少症，4.6%的患者存在贫血。在 79 例可评估患者中，40 例患者核型正常，最常见的细胞遗传学异常为 7 号染色体等臂和 20 号染色体长臂的染色体间缺失。30 岁时严重中性粒细胞减少症、血小板减少症和贫血的累积发生率分别为 59.9%、66.8%和 20.2%。20 年时骨髓增生异常综合征/白血病和骨髓衰竭/严重细胞减少症的累积发生率分别为 9.8%和 9.9%。121 例患者中有 15 例（12.4%）接受了异基因造血干细胞移植。15 例患者（12.4%）死亡；10 年和 20 年的总生存率分别为 95.7%和 87.4%。
尽管生存情况有所改善，但血液学并发症仍导致 SDS 患者死亡。需要进一步研究以优化造血干细胞移植的类型和方式，并评估未移植患者的长期结果。
