Chronic lymphocytic leukaemia: clinical-aetiological findings in 66 patients and their families

Little is known about the aetiology of chronic lymphocytic leukaemia (CLL). The family medical history is a "genomic tool" capturing interactions of genetic susceptibility, shared environment and common behaviours. A cohort of 66 consecutives patients with CLL (probands) was studied in a medical oncology practice (W.W.) from 1981 until 2005. A German version of the NCI medical history questionnaire for cancer aetiology was used. Familial clustering analysis was done by comparing the proportion of specific tumours in the first degree relatives of the CLL practice cohort with corresponding proportions of population-based cancer registry data. 18 (41%) male and 5 (23%) female CLL probands had multiple malignancies, e.g. 2 meningiomas, 7 and 19 years after diagnosis of CLL. 46 (12%) first degree relatives had malignancies with an excess of CLL. Other conspicuous familial associations are CLL with malignancies of the upper GI tract (oesophagus, stomach) and of the nervous system. 1. Chronic lymphocytic leukaemia clusters in some families like any other disease. Predisposition genes should be searched. 2. Cancer prevention and early detection should be continued in CLL patients because of their longevity and high risk for multiple malignancies. 3. The overrepresentation of upper GI malignancies in first degree relatives of CLL patients calls for targeted oesophago-gastroscopy screening studies.