Ishibe N, Sgambati M T, Fontaine L, Goldin L R, Jain N, Weissman N, Marti G E, Caporaso N E
Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, 6120 Executive Blvd., MSC 7236, Rockville, MD 20852, USA.
Leuk Lymphoma. 2001 Jun;42(1-2):99-108. doi: 10.3109/10428190109097681.
In an ongoing study, families with two or more living cases of B-CLL in first-degree relatives have been recruited through physician and self-referral. Since 1967, 28 kindreds with 73 cases of B-CLL have been enrolled within the National Cancer Institute (NCI) Familial B-CLL Registry. Medical, clinical, and demographic information have been obtained from private physicians, patient interview, hospital records, and death certificates. We used SEER Registry data to compare characteristics of sporadic B-CLL to familial B-CLL. The mean age at diagnosis was approximately 10 years younger among familial cases (57.9 +/- 12.1) than that observed in sporadic cases (70.1 +/- 11.9). A higher percentage of second primary tumors among familial CLL cases compared to reports in sporadic was also observed (16% vs. 8.8%). However, the transformation rate to non-Hodgkin's lymphoma does not appear to be different from that reported for sporadic cases. In conclusion, we observed some differences between familial and sporadic cases; whether any of these characteristics affect survival time or severity of disease is unknown. The study of families with multiple B-CLL cases will aid in delineating the genes and environmental factors that may play a role in the development of both forms of B-CLL.
在一项正在进行的研究中，通过医生推荐和自我推荐招募了一级亲属中有两例或更多例B细胞慢性淋巴细胞白血病（B-CLL）存活病例的家庭。自1967年以来，国家癌症研究所（NCI）家族性B-CLL登记处已登记了28个家族的73例B-CLL病例。已从私人医生、患者访谈、医院记录和死亡证明中获取了医疗、临床和人口统计学信息。我们使用监测、流行病学和最终结果（SEER）登记处的数据来比较散发性B-CLL和家族性B-CLL的特征。家族性病例的诊断时平均年龄（57.9±12.1岁）比散发性病例（70.1±11.9岁）小约10岁。与散发性病例报告相比，家族性CLL病例中第二原发性肿瘤的比例也更高（16%对8.8%）。然而，向非霍奇金淋巴瘤的转化率似乎与散发性病例报告的转化率没有差异。总之，我们观察到家族性病例和散发性病例之间存在一些差异；这些特征是否会影响生存时间或疾病严重程度尚不清楚。对有多例B-CLL病例的家庭进行研究将有助于确定可能在两种形式的B-CLL发生中起作用的基因和环境因素。
