Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up.
Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up.
复制标题
经过十五年的随访，国家癌症研究所的癌症继承了骨髓衰竭综合征队列。
DOI：
10.3324/haematol.2017.178111
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发表时间：
2018-01
期刊：
影响因子：
10.1
通讯作者：
Rosenberg PS
中科院分区：
文献类型：
--
作者：
Alter BP;Giri N;Savage SA;Rosenberg PS
国家癌症研究所遗传性骨髓衰竭综合征队列招募了患有Fanconi贫血、先天性角化不良、钻石-Blackfan贫血和Shwachman-Diamond综合征这四种主要综合征的患者，并遵循共同的综合方案。目前的分析包括自我们2010年发表第一份报告以来患者数量和人年数的两倍多。患有Fanconi贫血和先天性角化不良的患者发生头颈部和肛门生殖器鳞状细胞癌的比率比普通人群高数百倍。在竞争性风险分析中，到60岁时，导致干细胞移植或死亡的严重骨髓衰竭的累积发生率超过70%。钻石-布莱克凡贫血患者患肺癌、结肠癌和宫颈癌的几率高于普通人群。到60岁时，钻石-布莱克凡贫血患者严重骨髓衰竭的累积发生率为50%。较小的一组患有Shwachman-Diamond综合征，到目前为止还没有发展出大量的实体瘤，但40%的人在50岁时出现了骨髓衰竭。在Fanconi贫血和先天性角化不良患者中，干细胞移植后实体瘤的风险显著高于未移植患者。在任何一种综合征中，都没有明确的基因与癌症的关联。癌症在Fanconi贫血中最常见，其次是先天性角化不良；钻石-Blackfan贫血和Shwachman-Diamond综合征不太容易患癌症，但所有患者都面临更高的骨髓衰竭和特定癌症的风险。ClinicalTrials.gov标识：00027274
The National Cancer Institute Inherited Bone Marrow Failure Syndromes Cohort enrolls patients with the four major syndromes: Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome, and follows them with a common comprehensive protocol. The current analysis includes more than double the numbers of patients and person-years since our first report, published in 2010. Patients with Fanconi anemia and dyskeratosis congenita developed head and neck and anogenital squamous cell carcinomas at rates that were hundreds-fold greater than those of the general population. In competing risk analyses the cumulative incidence of severe bone marrow failure, leading to stem cell transplantation or death, was more than 70% by age 60. Patients with Diamond-Blackfan anemia developed lung, colon, and cervical cancer at rates greater than those of the general population. The cumulative incidence of severe bone marrow failure in those with Diamond-Blackfan anemia was 50% by age 60. The smaller group, with Shwachman-Diamond syndrome, have not as yet developed a significant number of solid tumors, but 40% developed bone marrow failure by age 50. The risk of solid tumors following stem cell transplantation in Fanconi anemia and in dyskeratosis congenita was significantly higher than in non-transplanted patients. There was no clear association of genotype with cancer in any of the syndromes. Cancer was most common in Fanconi anemia, followed by dyskeratosis congenita; Diamond-Blackfan anemia and Shwachman-Diamond syndrome are less cancer-prone, but nonetheless all patients are at increased risks of bone marrow failure and specific cancers. clinicaltrials.gov Identifier: 00027274