挪威卑尔根大学Dagrun Slettebø Daltveit团队研究了有重大出生缺陷个体的患癌风险。2020年12月2日，该研究发表在《英国医学杂志》上。

为了探讨出生缺陷与成年后癌症风险之间的相关性，研究组在丹麦、芬兰、挪威和瑞典进行了一项基于人口的嵌套病例对照研究。研究组招募了62295例1967-2014年出生的癌症患者（0-46岁），以及724542例相匹配的对照组。主要观察指标为与重大先天缺陷有关的癌症相对风险。

病例组中共有3.5％的患者患有严重的先天缺陷，对照组中有2.2％。与没有出生缺陷的人相比，有严重先天性缺陷的人患癌的优势比为1.74。没有染色体出生缺陷的人群患癌症的优势比为1.54；染色体异常的人群患癌优势比为5.53。许多结构性出生缺陷与后期在同一器官系统或解剖位置的癌症有关，例如眼睛、神经系统和泌尿器官的缺陷。

对于非染色体异常和染色体异常，患癌症的优势比均随着缺陷数量的增加而增加，并且随着年龄的增长而降低。患有任何非染色体出生缺陷的成年人（≥20岁）患癌的优势比为1.21，显著低于青少年（15-19岁，1.58）和儿童（0-14岁，2.03）。染色体异常的成年人相对总体患癌风险显著降低，从儿童的11.3降低到1.50。在成年人中，骨骼发育不良、神经系统缺陷、染色体异常、生殖器官缺陷和先天性心脏缺陷与总体癌症风险相关。

研究结果表明，对于非染色体异常和染色体异常、具有先天缺陷的个体患癌风险增加，且一直持续到成年。

附：英文原文

Title: Cancer risk in individuals with major birth defects: large Nordic population based case-control study among children, adolescents, and adults

Author: Dagrun Sletteb Daltveit, Kari Klungsyr, Anders Engeland, Anders Ekbom, Mika Gissler, Ingrid Glimelius, Tom Grotmol, Laura Madanat-Harjuoja, Anne Gulbech Ording, Solbjrg Makalani Myrtveit Sther, Henrik Toft Srensen, Rebecca Troisi, Tone Bjrge

Issue&Volume: 2020/12/02

Abstract:

Objective To examine associations between birth defects and cancer from birth into adulthood.

Design Population based nested case-control study.

Setting Nationwide health registries in Denmark, Finland, Norway, and Sweden.

Participants 62295 cancer cases (0-46 years) and 724542 frequency matched controls (matched on country and birth year), born between 1967 and 2014.

Main outcome measures Relative risk of cancer in relation to major birth defects, estimated as odds ratios with 99% confidence intervals from logistic regression models.

Results Altogether, 3.5% (2160/62295) of cases and 2.2% (15826/724542) of controls were born with major birth defects. The odds ratio of cancer for people with major birth defects compared with those without was 1.74 (99% confidence interval 1.63 to 1.84). For individuals with non-chromosomal birth defects, the odds ratio of cancer was 1.54 (1.44 to 1.64); for those with chromosomal anomalies, the odds ratio was 5.53 (4.67 to 6.54). Many structural birth defects were associated with later cancer in the same organ system or anatomical location, such as defects of the eye, nervous system, and urinary organs. The odds ratio of cancer increased with number of defects and decreased with age, for both non-chromosomal and chromosomal anomalies. The odds ratio of cancer in people with any non-chromosomal birth defect was lower in adults (≥20 years: 1.21, 1.09 to 1.33) than in adolescents (15-19 years: 1.58, 1.31 to 1.90) and children (0-14 years: 2.03, 1.85 to 2.23). The relative overall cancer risk among adults with chromosomal anomalies was markedly reduced from 11.3 (9.35 to 13.8) in children to 1.50 (1.01 to 2.24). Among adults, skeletal dysplasia (odds ratio 3.54, 1.54 to 8.15), nervous system defects (1.76, 1.16 to 2.65), chromosomal anomalies (1.50, 1.01 to 2.24), genital organs defects (1.43, 1.14 to 1.78), and congenital heart defects (1.28, 1.02 to 1.59) were associated with overall cancer risk.

Conclusions The increased risk of cancer in individuals with birth defects persisted into adulthood, both for non-chromosomal and chromosomal anomalies. Further studies on the molecular mechanisms involved are warranted.

DOI: 10.1136/bmj.m4060

Source: https://www.bmj.com/content/371/bmj.m4060