Familial B-Cell Chronic Lymphocytic Leukemia in a Population of Patients from Southern Italy

Abstract

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.

Composite mantle cell lymphoma and chronic lymphocytic leukemia/small lymphocytic lymphoma: a clinicopathologic and molecular study

“…Importantly, patients with a history of CLL/SLL have a two-fold increased risk of developing other malignancies such as skin, prostate, breast and colon cancer, as well as a 10-fold increased risk of developing other lymphomas, including Hodgkin lymphoma [22]. This risk in CLL/SLL patients could be explained by environmental and/or genetic factors [23–28], increasing the individual susceptibility for lymphomagenesis.…”

Absence of the V617F JAK2 Mutation in the Lymphoid Compartment in a Patient with Essential Thrombo- cythemia and B-Chronic Lymphocytic Leukemia and in Two Relatives with Lymphoproliferative Disorders

“…In conclusion, epidemiological studies showed familial aggregation of hematological malignancies [32,33], and further studies could lead to identification of biological markers involved in the development of hematological neoplasms and be a useful way to identifying a genetic predisposition.…”

Identification of a novel chromosome region, 13q21.33-q22.2, for susceptibility genes in familial chronic lymphocytic leukemia

“…[15][16][17] More than 80 families with aggregation of CLL have been reported. 18 Population studies have shown a 7-fold increased risk of CLL and a 2-fold increased risk for lymphoproliferative diseases among first-degree relatives of patients with CLL.…”