结构性出生缺陷和患有唐氏综合征的儿童的白血病风险
Ching-Ju Hsu1,2,3, Jeremy M Schraw1,3,4, Sonja A Rasmussen5
1Division of Hematology-Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
Scientific reports
|December 11, 2025
概括
与没有缺陷的儿童相比,患有唐氏综合征 (DS) 和先天缺陷的儿童具有类似的白血病风险. 特定的疾病,如眼/微眼和法洛的四重症,分别与急性淋巴细胞白血病和急性髓性白血病有关.
科学领域:
- 儿科瘤学 儿科瘤学
- 临床遗传学 临床遗传学
- 癌症流行病学 癌症流行病学
背景情况:
- 出生缺陷通常会增加儿童患癌症的风险.
- 唐氏综合征 (DS) 的儿童出生缺陷和白血病风险之间的关系尚不清楚.
研究的目的:
- 调查重大出生缺陷对患有唐氏综合征的儿童急性淋巴细胞白血病 (ALL) 和急性髓性白血病 (AML) 风险的影响.
主要方法:
- 利用了26660名DS儿童的基因重叠异常与儿童癌症注册链接研究的数据.
- 在有或没有同时出现重大出生缺陷的儿童中,评估了ALL和AML的累积发病率.
- 根据出生缺陷的存在和类型计算出白血病风险的调整风险比率 (aHR).
主要成果:
- 71.9%的儿童至少有一个重大出生缺陷,主要是心脏,肌肉骨或胃肠道.
- 患有和没有同时出现重大先天性缺陷的儿童的整体白血病发病率是可比的 (ALL的aHR:1.12,AML的aHR:1.09).
- 无眼膜症/微眼膜症与ALL风险增加有关 (aHR:2.83),而法洛特四重症与AML风险增加有关 (aHR:2.40).
结论:
- 严重的出生缺陷不会显著地提高唐氏综合征儿童的整体白血病风险.
- 某些特定的出生缺陷,眼/微眼和Fallote的四重症,与这一群体中特定的白血病类型有关.
- 与一般儿科患者不同,患有DS的儿童的出生缺陷似乎不是白血病风险的强有力的决定因素.
相关概念视频
Meiosis vs. Mitosis
69.2K
Cell division is necessary for growth and reproduction in organisms. Mitosis aids cell growth and development by dividing somatic cells. In contrast, meiosis causes the division of germ cells and plays an essential role in sexual reproduction. Due to their unique functional requirements, mitosis and meiosis differ from each other in multiple aspects.
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...
69.2K
Meiosis I
217.4K
Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by...
217.4K
Disorders of Leukocytes
1.8K
Leukocyte disorders can lead to either leukopenia, characterized by an abnormally low leukocyte count, or leukocytosis, marked by a very high leukocyte number.
Leukopenia may result from bone marrow disorders, autoimmune diseases, and infectious diseases. For example, conditions such as multiple myeloma and aplastic anemia can impair the bone marrow's ability to produce adequate leukocytes. Similarly, autoimmune diseases like lupus and viral infections such as HIV can prompt the immune...
Leukopenia may result from bone marrow disorders, autoimmune diseases, and infectious diseases. For example, conditions such as multiple myeloma and aplastic anemia can impair the bone marrow's ability to produce adequate leukocytes. Similarly, autoimmune diseases like lupus and viral infections such as HIV can prompt the immune...
1.8K
Bone Marrow Sampling and Transplants
816
Bone marrow transplant is a potential cure for several diseases, including cancer and specific genetic disorders. Notably, this procedure is applicable for patients suffering from aplastic anemia, certain types of leukemia, severe combined immunodeficiency disease (SCID), Hodgkin's disease, non-Hodgkin's lymphoma, multiple myeloma, thalassemia, sickle-cell disease, and certain cancers.
The transplant begins with high doses of chemotherapy and radiation treatment, which aim to destroy...
The transplant begins with high doses of chemotherapy and radiation treatment, which aim to destroy...
816
Teratogenicity
3.9K
The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
3.9K
Karyotyping
68.0K
Overview
68.0K


