Haematologica · 2004
Familial lymphoid neoplasms in patients with mantle cell lymphoma.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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Tort Frederic, Camacho Emma, Bosch Francesc, Harris Nancy Lee, Montserrat Emili, Campo Elias
Аннотация
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.
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.
Предметные рубрики MeSH
AdultAgedAtaxia Telangiectasia Mutated ProteinsCell Cycle ProteinsCheckpoint Kinase 1Checkpoint Kinase 2DNA DamageDNA-Binding ProteinsFamily HealthFemaleGenes, p53Genetic Predisposition to DiseaseHumansLymphomaLymphoma, Mantle-CellMaleMiddle AgedMutationPedigreeProtein KinasesProtein Serine-Threonine KinasesTumor Suppressor Proteins