Abstract:
BACKGROUND AND OBJECTIVES:Familial aggregation has been recognized in patients with several lymphoid neoplasms, but the genetic basis for this familial clustering is not known. Germ-line mutations in the ataxia-telangiectasia mutated (ATM) and CHK2 genes have been detected in patients with mantle cell lymphoma (MCL), suggesting a potential role of these genes in genetic predisposition to these tumors. However, no familial association has been previously recognized in MCL. DESIGN AND METHODS:To determine the possible existence of familial lymphoid neoplasms in MCL, we searched clinical records of MCL patients and identified three families in which a MCL, an acute B-cell lymphoblastic leukemia, and a lymphoplasmacytic lymphoma occurred in a first-degree relative of a MCL patient. RESULTS:The neoplasms in two daughters appeared at an earlier age and were more aggressive than that in the respective parent, suggesting that the phenomenon of anticipation may characterize familial lymphomas associated with MCL. No mutations were detected in the ATM, CHK2, CHK1, and p53 genes. INTERPRETATION AND CONCLUSIONS:Our findings suggest that inactivation of the investigated DNA damage response genes do not account for familial disease aggregation in MCL patients, although such aggregation may occur and seems to be associated with the phenomenon of anticipation.
journal_name
Haematologicajournal_title
Haematologicaauthors
Tort F,Camacho E,Bosch F,Harris NL,Montserrat E,Campo Ekeywords:
subject
Has Abstractpub_date
2004-03-01 00:00:00pages
314-9issue
3eissn
0390-6078issn
1592-8721journal_volume
89pub_type
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