Gene expression profile and genomic changes in disease progression of early-stage chronic lymphocytic leukemia

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Haematologica, Vol 93, Issue 1, 132-136 doi: 10.3324/haematol.11694

Gene expression profile and genomic changes in disease progression of

early-stage chronic lymphocytic leukemia

Verònica Fernàndez1, Pedro Jares2, Itziar Salaverria1, Eva Giné3, Sílvia Beà1,

Marta Aymerich1, Dolors Colomer1, Neus Villamor1, Francesc Bosch3, Emili

Montserrat3, Elias Campo1,

1 Hematopathology Section, Department of Pathology

2 Genomics Unit and

3 Department of Hematology, Hospital Clínic, Institut d'Investigacions

Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, Barcelona,

Spain

Correspondence: Elias Campo, Hematopathology Unit, Hospital Clínic, Villarroel

170, 08036 Barcelona, Spain. E-mail: ecampo@...

The biologic mechanisms involved in the clinical progression from early stages

of patients with chronic lymphocytic leukemia (CLL) are not well known. We

investigated sequential samples from 16 untreated CLL patients obtained at

diagnosis in early stage and after progression before treatment. One patient had

a p16 INK4a homozygous deletion at diagnosis and progression, and 3 patients

acquired a p53 mutation, gains of 5q21-q23 and 11pter-p14, and a gain of

chromosome 12 respectively, during the progression of the disease. Gene

expression profile analysis showed a significant modulation of 58 genes with a

particular downregulation of genes that are inhibitors of cell adhesion and

motility.