Hereditary chronic lymphocytic leukemia: An extended family study and literature review

Leukemia is manifested in about 1-2% of people in Western industrialized nations. The most common form of leukemia is B-cell chronic lymphocytic leukemia (B-CLL), which accounts for approximately 30% of all cases. While CLL's etiology remains elusive, there is increasing evidence that substantially supports the role of hereditary factors in a subset of cases of this disease. Our purpose is to describe an extremely well documented CLL family wherein the disease has been verified in a father and his four sons; two of the sons are identical twins. The family history, including available medical records and pathology reports, was gathered and reviewed. Peripheral blood lymphocytes were used for cytogenetic and fluorescence in situ hybridization analyses. The family reported herein shows classic findings in support of an autosomal dominant mode of genetic transmission of CLL. Given the explosive developments in molecular genetics during the past decade, it is certain that families of this type will provide important clues to the etiology, pathogenesis, and ultimate prevention of CLL.