Deletion mapping on the long arm of chromosome 7 in splenic lymphoma with villous lymphocytes

Genes Chromosomes and Cancer - Tập 36 Số 1 - Trang 57-69 - 2003
Alicja Gruszka1, Rifat Hamoudi1, Lucy R. Osborne2, Estella Matutes1, Daniel Catovsky1
1Academic Department of Haematology and Cytogenetics, Institute of Cancer Research/Royal Marsden NHS Trust, London, United Kingdom.
2Department of Medicine, University of Toronto, Toronto, Canada

Tóm tắt

AbstractSplenic lymphoma with villous lymphocytes (SLVL) is a low‐grade lymphoproliferative disorder characterized by splenomegaly and circulating villous lymphocytes in the peripheral blood. It is considered to be the leukemic form of splenic marginal zone lymphoma (SMZL). The genetic basis of this lymphoma type remains unknown. Conventional cytogenetic studies have identified frequent structural abnormalities of chromosome 7, in the form of translocations, mainly unbalanced, and 7q deletions. In this current study, we undertook deletion mapping of the long arm of chromosome 7 in a series of cases with SLVL. Metaphase fluorescence in situ hybridization (FISH) was used in the first instance, followed by a study of loss of heterozygosity (LOH). The common area of deletion identified by FISH spanned from the YAC clone HSC7E1289 (mapping to 7q32.1) to in between YACs HSC7E195 and HSC7E648 (7q32–3). By application of 50 microsatellite markers mapping to the FISH‐CDR and to areas of deletion reported in other studies, four distinct hotspot loci were identified, with abnormalities present in 29–55% cases. In three of them, both LOH and biallelic deletions were found. The LOH in the majority of patients was noncontiguous. The presence of a high incidence of abnormalities in the established hotspot areas and in particular the finding of biallelic deletions is indicative of the existence of genes important for the pathogenesis of SLVL in these areas. © 2002 Wiley‐Liss, Inc.

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Genes Chromosomes and Cancer

Tập 36 Số 1

57-69

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