Division of Molecular Genetic Epidemiology, German Cancer Research Center, Heidelberg, Germany.
Finnish Cancer Registry, Institute for Statistical and Epidemiological Cancer Research, Helsinki, Finland; School of Health Sciences, University of Tampere, Tampere, Finland.
Eur J Cancer. 2014 Apr;50(6):1176-83. doi: 10.1016/j.ejca.2013.12.023. Epub 2014 Jan 21.
We aimed to estimate lifetime cumulative risk of melanoma (CRM) in relatives of patients with melanoma by histology and age at diagnosis in patients and relatives.
A population-based cohort of 238724 first-degree relatives of 46091 melanoma patients diagnosed in 1955-2010 in Nordic countries was followed for cancer incidence.
The CRM (0-79 years) in first-degree relatives of a patient with superficial spreading (SSM), nodular (NM), or lentigo maligna melanoma was quite similar, ranging from 2.5% to about 3%, which represents about 2-fold increase over the general population risk. When one melanoma patient in the family was diagnosed before age 30, the CRM was about 3%. When there were > or =2 melanoma patients diagnosed before age 30 in a family, CRM for relatives was about 14%, 6% for diagnoses at age 30-59, and 5% for diagnoses at age 60 or older. Depending on age at diagnosis of same-sex twins (not known whether monozygotic/dizygotic), their CRM was about 7-21%. Although no familial case of concordant histological types of acral lentiginous/desmoplastic/compound nevus/spindle cell melanomas or malignant blue nevus was found, familial risks of discordant histological types of melanoma were interchangeably high for most of the types, e.g. higher risk of SSM when a first-degree relative had NM [standardized incidence ratios (SIR)=2.6, 95% confidence interval (CI)=2.1-3.3, n=72] or acral lentiginous (4.0, 95% CI=1.5-8.8, n=6) and vice versa. There was a tendency toward concordant age at diagnosis of melanoma among relatives of melanoma patients.
Findings of this study may help clinicians to find subjects at high melanoma risk for the genetic counseling. The risk was highest when melanoma occurred in a same-sex twin, one first-degree relative diagnosed at young age (<30), or > or =2 first-degree relatives. Histological type of melanoma does not seem to play an important role in familial melanoma.
This work was supported by the Nordic Cancer Union, Swedish Council for Working Life and Social Research, and German Cancer Aid.
本研究旨在通过患者和亲属的组织学和发病年龄,估计黑色素瘤(CRM)患者亲属的终生累积发病风险。
本研究基于北欧国家的一个队列,共纳入 238724 名 46091 名黑色素瘤患者的一级亲属,随访其癌症发病情况。
在患有浅表扩散型(SSM)、结节型(NM)或恶性雀斑样痣型黑色素瘤的患者的一级亲属中,CRM(0-79 岁)相当相似,范围在 2.5%至 3%左右,这比一般人群的风险增加了约 2 倍。如果家族中一名黑色素瘤患者在 30 岁之前被诊断出患有黑色素瘤,那么亲属的 CRM 约为 3%。如果家族中有≥2 名黑色素瘤患者在 30 岁之前被诊断,那么亲属的 CRM 为 14%,30-59 岁诊断的为 6%,60 岁或以上诊断的为 5%。根据同性别双胞胎的发病年龄(不知道是同卵双生还是异卵双生),他们的 CRM 约为 7-21%。尽管未发现肢端雀斑样痣/促结缔组织增生型/复合痣/梭形细胞黑色素瘤或恶性蓝痣的家族性一致性组织学类型病例,但大多数类型的黑色素瘤家族性风险是可以互换的,例如,一级亲属患有 NM 时,SSM 的风险较高[标准化发病比(SIR)=2.6,95%置信区间(CI)=2.1-3.3,n=72]或肢端黑色素瘤(4.0,95%CI=1.5-8.8,n=6),反之亦然。黑色素瘤患者亲属的发病年龄有趋同倾向。
本研究结果有助于临床医生为有遗传咨询需求的对象发现高黑色素瘤风险人群。当黑色素瘤发生在同性别双胞胎、一个一级亲属在年轻时(<30 岁)被诊断出、或≥2 个一级亲属被诊断出时,风险最高。黑色素瘤的组织学类型似乎在家族性黑色素瘤中不起重要作用。
本项工作得到了北欧癌症联盟、瑞典工作生活和社会研究理事会以及德国癌症援助的支持。