Department of Dermatology, University of Turku, Turku, Finland.
Department of Dermatology, Turku University Hospital, Turku, Finland.
Int J Cancer. 2019 Dec 1;145(11):2926-2932. doi: 10.1002/ijc.32187. Epub 2019 Feb 18.
Neurofibromatosis type 1 (NF1) is a cancer predisposition syndrome with an incidence of 1:2,000. Patients with NF1 have an increased cancer risk and mortality, but there are no population-based cohort studies specifically investigating the risk of childhood malignancies. We used the Finnish NF1 cohort to analyze the incidence, risk and prognosis of malignancies in NF1 patients <20 years of age. Persons born in 1987-2011 were included, and 524 persons were followed through the files of the Finnish Cancer Registry from birth up to age 20 years. This amounted to 8,376 person years. Fifty-three patients had cancer <20 years of age, yielding a standardized incidence ratio (SIR) of 35.6. The most frequent location of pediatric cancers was the central nervous system (CNS); there were 45 cases and the SIR was 115.7. Exclusion of 22 optic pathway gliomas (OPGs) gave an SIR of 59.1 for the CNS and 21.6 for all cancers. There were nine malignant peripheral nerve sheath tumors (MPNSTs); their cumulative risk was 2.7% by age 20. No cases of leukemia were observed. NF1 patients showed considerable excess mortality with a standardized mortality ratio (SMR) of 73.1. The survival of NF1 patients with CNS tumors other than OPGs did not differ from that of non-NF1 controls (HR 0.64, 95% CI 0.23 to 1.76). In conclusion, brain tumors in childhood and MPNSTs in adolescence are malignancies of major concern in patients with NF1. The risk for myeloid malignancies may not be as high as suggested in the literature.
神经纤维瘤病 1 型（NF1）是一种癌症易感性综合征，发病率为 1:2000。NF1 患者的癌症风险和死亡率增加，但目前尚无专门针对儿童恶性肿瘤风险的基于人群的队列研究。我们使用芬兰 NF1 队列分析了 <20 岁 NF1 患者恶性肿瘤的发病率、风险和预后。纳入了 1987-2011 年出生的人群，通过芬兰癌症登记处的档案对 524 名患者进行了随访，随访时间从出生到 20 岁。共随访了 8376 人年。53 名患者在 <20 岁时患有癌症，标准化发病率比（SIR）为 35.6。儿科癌症最常见的部位是中枢神经系统（CNS）；有 45 例，SIR 为 115.7。排除 22 例视神经胶质瘤（OPG）后，CNS 的 SIR 为 59.1，所有癌症的 SIR 为 21.6。有 9 例恶性外周神经鞘肿瘤（MPNST）；到 20 岁时，其累积风险为 2.7%。未观察到白血病病例。NF1 患者的死亡率明显过高，标准化死亡率比（SMR）为 73.1。CNS 肿瘤（非 OPG）以外的 NF1 患者的生存率与非 NF1 对照组无差异（HR 0.64，95%CI 0.23 至 1.76）。总之，儿童期脑肿瘤和青春期 MPNST 是 NF1 患者主要关注的恶性肿瘤。髓系恶性肿瘤的风险可能不像文献中提示的那样高。
