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施瓦茨曼-戴蒙德综合征患者的淋巴系统恶性肿瘤

Lymphoid malignancies in patients with Shwachman-Diamond syndrome.

作者信息

Reed Helen D, Do Hyunwoo, Weller Edie, Harris Marian H, Reilly Christopher R, Tsai Harrison K, Farrar Jason E, Lau Bonnie W, Pommert Lauren, Gamper Christopher, Atkinson Ian, Coyne Katherine, Joos Margret, Loveless Sara, Steltz Sarah, Cheng Leah, Malsch Maggie, Myers Kasiani, Shimamura Akiko

机构信息

Dana-Farber and Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, Boston, MA.

Biostatistics and Research Design Center, Boston Children's Hospital, Boston, MA.

出版信息

Blood. 2025 May 22;145(21):2528-2532. doi: 10.1182/blood.2024026507.

DOI:10.1182/blood.2024026507
PMID:40090004
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12163733/
Abstract

This study identified an increased risk of lymphoid malignancy in Shwachman-Diamond syndrome (SDS) with an observed risk 38-fold higher than expected based on population data. Increased toxicity was observed with standard therapies in patients with SDS.

摘要

本研究发现,施瓦茨曼-戴蒙德综合征(SDS)患者发生淋巴系统恶性肿瘤的风险增加,根据人群数据观察到的风险比预期高38倍。在SDS患者中,标准疗法观察到毒性增加。

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Lymphoid malignancies in patients with Shwachman-Diamond syndrome.施瓦茨曼-戴蒙德综合征患者的淋巴系统恶性肿瘤
Blood. 2025 May 22;145(21):2528-2532. doi: 10.1182/blood.2024026507.
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本文引用的文献

1
A case of co-occurring acute myeloid leukemia and relapsed diffuse large B-cell lymphoma in a young adult with Shwachman-Diamond syndrome.一名患有施瓦茨曼-戴蒙德综合征的年轻成人同时发生急性髓系白血病和复发性弥漫性大B细胞淋巴瘤的病例。
Pediatr Blood Cancer. 2024 Aug;71(8):e31137. doi: 10.1002/pbc.31137. Epub 2024 Jun 4.
2
Convergent somatic evolution commences in utero in a germline ribosomopathy.在生殖系核糖体病中,合子体细胞进化始于宫内。
Nat Commun. 2023 Aug 22;14(1):5092. doi: 10.1038/s41467-023-40896-5.
3
Shwachman-Diamond syndromes: clinical, genetic, and biochemical insights from the rare variants.
Shwachman-Diamond 综合征:罕见变异的临床、遗传和生化见解。
Haematologica. 2023 Oct 1;108(10):2594-2605. doi: 10.3324/haematol.2023.282949.
4
Predisposition to myeloid malignancies in Shwachman-Diamond syndrome: biological insights and clinical advances.Shwachman-Diamond 综合征中骨髓恶性肿瘤的易感性:生物学见解和临床进展。
Blood. 2023 Mar 30;141(13):1513-1523. doi: 10.1182/blood.2022017739.
5
Hematologic complications with age in Shwachman-Diamond syndrome.Shwachman-Diamond 综合征患者的血液学并发症与年龄相关。
Blood Adv. 2022 Jan 11;6(1):297-306. doi: 10.1182/bloodadvances.2021005539.
6
Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome.不同的遗传途径定义了 Shwachman-Diamond 综合征中恶性前与代偿性克隆性造血。
Nat Commun. 2021 Feb 26;12(1):1334. doi: 10.1038/s41467-021-21588-4.
7
A Prospective Study of Hematologic Complications and Long-Term Survival of Italian Patients Affected by Shwachman-Diamond Syndrome.一项意大利 Shwachman-Diamond 综合征患者血液学并发症和长期生存的前瞻性研究。
J Pediatr. 2020 Apr;219:196-201.e1. doi: 10.1016/j.jpeds.2019.12.041. Epub 2020 Feb 6.
8
Clinical features and outcomes of patients with Shwachman-Diamond syndrome and myelodysplastic syndrome or acute myeloid leukaemia: a multicentre, retrospective, cohort study.施瓦茨曼-戴蒙德综合征合并骨髓增生异常综合征或急性髓系白血病患者的临床特征及预后:一项多中心、回顾性队列研究
Lancet Haematol. 2020 Mar;7(3):e238-e246. doi: 10.1016/S2352-3026(19)30206-6. Epub 2019 Dec 23.
9
Shwachman-Diamond Syndrome: Molecular Mechanisms and Current Perspectives.Shwachman-Diamond 综合征:分子机制与研究现状。
Mol Diagn Ther. 2019 Apr;23(2):281-290. doi: 10.1007/s40291-018-0368-2.
10
Diagnosis, Treatment, and Molecular Pathology of Shwachman-Diamond Syndrome.施瓦赫曼-戴蒙德综合征的诊断、治疗及分子病理学
Hematol Oncol Clin North Am. 2018 Aug;32(4):687-700. doi: 10.1016/j.hoc.2018.04.006. Epub 2018 Jun 5.