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Impact of CHEK2 germline variants on haematological malignancy risk and outcomes of allogeneic HSCT.

作者信息

Lahtinen Atte K, Karu Maarja, Koski Jessica R, Ritari Jarmo, Hyvärinen Kati, Koskela Satu, Nihtilä Julia, Partanen Jukka, Vettenranta Kim, Koskenvuo Minna, Niittyvuopio Riitta, Salmenniemi Urpu, Itälä-Remes Maija, Jahnukainen Kirsi, Kilpivaara Outi, Wartiovaara-Kautto Ulla

机构信息

Applied Tumor Genomics Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.

Department of Medical and Clinical Genetics, Medicum, Faculty of Medicine, University of Helsinki, Helsinki, Finland.

出版信息

Br J Haematol. 2025 Jun 12;207(2):636-41. doi: 10.1111/bjh.20196.

DOI:10.1111/bjh.20196
PMID:40506802
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12378959/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51b6/12378959/915ece932492/BJH-207-636-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51b6/12378959/915ece932492/BJH-207-636-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51b6/12378959/915ece932492/BJH-207-636-g001.jpg

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Impact of CHEK2 germline variants on haematological malignancy risk and outcomes of allogeneic HSCT.CHEK2基因种系变异对血液系统恶性肿瘤风险及异基因造血干细胞移植结局的影响。
Br J Haematol. 2025 Jun 12;207(2):636-41. doi: 10.1111/bjh.20196.
2
Bone marrow versus peripheral blood allogeneic haematopoietic stem cell transplantation for haematological malignancies in adults.成人血液系统恶性肿瘤的骨髓与外周血异基因造血干细胞移植。
Cochrane Database Syst Rev. 2024 Nov 7;11(11):CD010189. doi: 10.1002/14651858.CD010189.pub3.
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Bone marrow versus peripheral blood allogeneic haematopoietic stem cell transplantation for haematological malignancies in adults.成人血液系统恶性肿瘤的骨髓与外周血异基因造血干细胞移植
Cochrane Database Syst Rev. 2014 Apr 20;2014(4):CD010189. doi: 10.1002/14651858.CD010189.pub2.
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Restrictive versus liberal red blood cell transfusion strategies for people with haematological malignancies treated with intensive chemotherapy or radiotherapy, or both, with or without haematopoietic stem cell support.对于接受强化化疗或放疗、或两者联合治疗且伴有或不伴有造血干细胞支持的血液恶性肿瘤患者，采用限制性与宽松性红细胞输注策略。
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Restrictive versus liberal red blood cell transfusion strategies for people with haematological malignancies treated with intensive chemotherapy or radiotherapy, or both, with or without haematopoietic stem cell support.对于接受强化化疗或放疗或两者联合治疗、有或没有造血干细胞支持的血液系统恶性肿瘤患者，采用限制性与宽松性红细胞输血策略的比较。
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Polyclonal anti-thymocyte globulins for the prophylaxis of graft-versus-host disease after allogeneic stem cell or bone marrow transplantation in adults.多克隆抗胸腺细胞球蛋白用于预防成人异基因干细胞或骨髓移植后的移植物抗宿主病。
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Oral decitabine and cedazuridine maintenance after haematopoietic stem-cell transplantation in very high-risk acute myeloid leukaemia or myelodysplastic syndrome (GFM-DACORAL-DLI): a multicentre, single-arm, phase 2 trial.口服地西他滨联合西扎苷在极高危急性髓系白血病或骨髓增生异常综合征造血干细胞移植后的维持治疗（GFM-DACORAL-DLI）：一项多中心、单臂、2期试验
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Donor-Derived Malignancy and Transplantation Morbidity: Risks of Patient and Donor Genetics in Allogeneic Hematopoietic Stem Cell Transplantation.供体来源的恶性肿瘤与移植相关并发症：异基因造血干细胞移植中患者及供体遗传学风险
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本文引用的文献

1
Outcomes of hematopoietic stem cell transplantation in 813 pediatric patients with Fanconi anemia.813 例范可尼贫血患儿造血干细胞移植的结果。
Blood. 2024 Sep 19;144(12):1329-1342. doi: 10.1182/blood.2023022751.
2
Cancer risks for other sites in addition to breast in CHEK2 c.1100delC families.除了 CHEK2 c.1100delC 家族的乳腺癌之外，其他部位的癌症风险。
Genet Med. 2024 Sep;26(9):101171. doi: 10.1016/j.gim.2024.101171. Epub 2024 May 31.
3
Germline Predisposition in Hematologic Malignancies: Testing, Management, and Implications.
血液系统恶性肿瘤的胚系易感性：检测、管理及影响。
Am Soc Clin Oncol Educ Book. 2024 Jun;44(3):e432218. doi: 10.1200/EDBK_432218.
4
Germline CHEK2 mutations in patients with myeloid neoplasms.骨髓肿瘤患者的种系CHEK2突变
Leukemia. 2024 Apr;38(4):908-911. doi: 10.1038/s41375-024-02179-w. Epub 2024 Feb 20.
5
A genomic mutational constraint map using variation in 76,156 human genomes.基于 76156 个人类基因组的变异，绘制出基因组突变约束图谱。
Nature. 2024 Jan;625(7993):92-100. doi: 10.1038/s41586-023-06045-0. Epub 2023 Dec 6.
6
Donor-Derived Malignancy and Transplantation Morbidity: Risks of Patient and Donor Genetics in Allogeneic Hematopoietic Stem Cell Transplantation.供体来源的恶性肿瘤与移植相关并发症：异基因造血干细胞移植中患者及供体遗传学风险
Transplant Cell Ther. 2024 Mar;30(3):255-267. doi: 10.1016/j.jtct.2023.10.018. Epub 2023 Oct 31.
7
Management of patients with germline predisposition to haematological malignancies considered for allogeneic blood and marrow transplantation: Best practice consensus guidelines from the UK Cancer Genetics Group (UKCGG), CanGene-CanVar, NHS England Genomic Laboratory Hub (GLH) Haematological Malignancies Working Group and the British Society of Blood and Marrow Transplantation and cellular therapy (BSBMTCT).考虑接受异基因血液和骨髓移植的血液系统恶性肿瘤种系易感性患者的管理：英国癌症遗传学小组（UKCGG）、加拿大基因-加拿大变异（CanGene-CanVar）、英国国家医疗服务体系（NHS）英格兰基因组实验室中心（GLH）血液系统恶性肿瘤工作组以及英国血液和骨髓移植与细胞治疗学会（BSBMTCT）的最佳实践共识指南
Br J Haematol. 2023 Apr;201(1):35-44. doi: 10.1111/bjh.18682. Epub 2023 Feb 14.
8
Clinically relevant germline variants in allogeneic hematopoietic stem cell transplant recipients.同种异体造血干细胞移植受者中具有临床意义的种系变异。
Bone Marrow Transplant. 2023 Jan;58(1):39-45. doi: 10.1038/s41409-022-01828-x. Epub 2022 Oct 4.
9
Differences in Cancer Phenotypes Among Frequent CHEK2 Variants and Implications for Clinical Care-Checking CHEK2.常见 CHEK2 变异体的癌症表型差异及其对临床护理的影响——CHEK2 检测。
JAMA Oncol. 2022 Nov 1;8(11):1598-1606. doi: 10.1001/jamaoncol.2022.4071.
10
Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies.异基因造血干细胞移植治疗成人遗传性髓系恶性肿瘤的结果。
Blood Adv. 2023 Feb 28;7(4):549-554. doi: 10.1182/bloodadvances.2022008172.