多指畸形是多种癌症易感综合征 (CPS) 的一个特征，然而，多指畸形患者的癌症风险在很大程度上尚不清楚。我们利用瑞典国家登记册的数据进行了一项匹配队列研究。我们纳入了 1970 年至 2017 年间出生于瑞典的 6694 名多指症患者。多指畸形被分类为拇指多指畸形、手指多指畸形、多指畸形（额外的出生缺陷和/或智力障碍）或孤立性多指畸形。每个暴露个体都按照性别、出生年份和出生县进行了 50 次比较。通过 Cox 比例风险模型估计相关性。发现患有多指的男性（HR 4.24，95% CI 2.03-8.84）和女性（HR 3.32，95% CI 1.44-7.63）儿童患癌症的风险增加。在男性中，孤立性多指与儿童期（HR 1.87，95% CI 1.05-3.33）和青年期（HR 2.30，95% CI 1.17-4.50）癌症相关，但与女性无关。在排除两种已知的 CPS：唐氏综合症和神经纤维瘤病后，癌症风险仍然增加。肾癌和白血病的特定部位癌症风险最高。多指症患者的癌症风险增加，尤其是男性和多指症患者。我们鼓励未来关于多指症和癌症关联的研究，并强调临床表型分析的重要性。© 2024。作者。

Polydactyly is a feature of several cancer predisposition syndromes (CPS), however, cancer risk in individuals with polydactyly is largely unknown.We performed a matched cohort study using data from Swedish national registers. We included 6694 individuals with polydactyly, born in Sweden between 1970-2017. Polydactyly was categorised as thumb polydactyly, finger polydactyly, polydactyly+ (additional birth defects and/or intellectual disability) or isolated polydactyly. Each exposed individual was matched to 50 comparisons by sex, birth year and birth county. Associations were estimated through Cox proportional hazard models.An increased childhood cancer risk was found in males (HR 4.24, 95% CI 2.03-8.84) and females (HR 3.32, 95% CI 1.44-7.63) with polydactyly+. Isolated polydactyly was associated with cancer in childhood (HR 1.87, 95% CI 1.05-3.33) and young adulthood (HR 2.30, 95% CI 1.17-4.50) in males but not in females. The increased cancer risk remained after exclusion of two known CPS: Down syndrome and neurofibromatosis. The highest site-specific cancer risk was observed for kidney cancer and leukaemia.An increased cancer risk was found in individuals with polydactyly, especially in males and in individuals with polydactyly+. We encourage future research about polydactyly and cancer associations and emphasise the importance of clinical phenotyping.© 2024. The Author(s).