Capalbo Silvana, Callea Vincenzo, Musolino Caterina, Guglielmo Patrizia, D'Arena Giovanni, Fragasso Alberto, Battista Cosima, Giustolisi Rosario, Brugiatelli Maura, Liso Vincenzo
Hematology, University of Bari, Policlinico, Bari, Italy.
Int J Hematol. 2004 May;79(4):354-7. doi: 10.1532/ijh97.e0304.
We investigated the prevalence of chronic lymphocytic leukemia (CLL) in 9650 relatives of 510 CLL patients from 5 different regions (Apulia, Basilicata, Campania, Calabria, and Sicily) of Southern Italy. Data collection included a family history questionnaire. In our series of 510 CLL patients, 53 families with 2 or more individuals who had chronic lymphoproliferative disease (CLD) or other hematological malignancies were identified. In these families, 27 cases of CLL, 10 of indolent non-Hodgkin's lymphoma, and 7 of multiple myeloma were identified in relatives of CLL probands. Twenty-two relatives developed hematological malignancies other than CLD (19, acute leukemia; 3, chronic myeloid leukemia). In this study the prevalence of CLD in relatives of 510 CLL patients was 8.6% (44/510), and the prevalence of CLL in the same series was 5.2% (27/ 510). Considering the presence of clusters of individuals with hematological malignancies, overall our series contained 4 families showing a cluster with more than 2 cases. The most frequent pattern of affected family members was represented by 39 families (39/53 [73%]) with affected siblings or cousins only. Twenty siblings had CLL. The other families showed a multigenerational pattern with an affected parent-offspring relationship in only 11 (21%) of the cases and with a combination of the first 2 categories in 3 (6%) of the families. In 8 families belonging to both the last 2 mentioned groups, the affected offspring had an earlier disease onset than their parents, suggesting anticipation. We estimated the size and examined the pattern of familial aggregation of hematological malignancies, in particular CLL/CLD, in a specific geographical area. CLL was the most frequent disease in relatives, mainly siblings, of our CLL patients. Our results may be a contribution to the characterization of the epidemiological distribution pattern of CLL.
我们调查了来自意大利南部5个不同地区（普利亚、巴西利卡塔、坎帕尼亚、卡拉布里亚和西西里）的510例慢性淋巴细胞白血病（CLL）患者的9650名亲属中CLL的患病率。数据收集包括一份家族病史问卷。在我们这组510例CLL患者中，识别出53个家庭，这些家庭中有2名或更多个体患有慢性淋巴细胞增殖性疾病（CLD）或其他血液系统恶性肿瘤。在这些家庭中，在CLL先证者的亲属中识别出27例CLL、10例惰性非霍奇金淋巴瘤和7例多发性骨髓瘤。22名亲属发生了除CLD以外的血液系统恶性肿瘤（19例急性白血病；3例慢性髓性白血病）。在本研究中，510例CLL患者亲属中CLD的患病率为8.6%（44/510），同组中CLL的患病率为5.2%（27/510）。考虑到存在血液系统恶性肿瘤患者聚集的情况，总体而言我们的系列包含4个显示有超过2例聚集的家庭。受影响家庭成员最常见的模式是39个家庭（39 / 53 [73%]），仅兄弟姐妹或表亲受影响。20名兄弟姐妹患有CLL。其他家庭呈现多代模式，仅11例（21%）有受影响的父母 - 子女关系，3例（6%）家庭同时具备前两类情况。在属于最后提到的两组的8个家庭中，受影响的后代发病比其父母更早，提示遗传早现。我们估计了特定地理区域内血液系统恶性肿瘤，特别是CLL / CLD的家族聚集规模并检查了其模式。CLL是我们CLL患者亲属中最常见的疾病，主要是兄弟姐妹。我们的结果可能有助于描述CLL的流行病学分布模式。
