IgV(H) gene mutation status and genomic imbalances in chronic lymphocytic leukaemia with increased prolymphocytes (CLL/PL).

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IgV(H) gene mutation status and genomic imbalances in chronic lymphocytic

leukaemia with increased prolymphocytes (CLL/PL).

Zsofia Balogh, Lilla Reiniger, Deak, Csaba Bodor, Judit Csomor, Agota

Szepesi, Eva Gagyi, Laszlo Kopper, and Andras Matolcsy

Hematol Oncol, April 4, 2007; .

1st Department of Pathology and Experimental Cancer Research, Faculty of

Medicine, Semmelweis University, Budapest, Hungary.

Chronic lymphocytic leukaemia (CLL) with increased prolymphocytes (CLL/PL) has

been defined by the World Health Organization (WHO) classification and

considered as a progressive and clinically aggressive variant of CLL. To further

characterize the biological features of this disease, we performed IgV(H) gene

mutational status, FISH and high-resolution comparative genomic hybridization

(HR-CGH) analysis in 17 cases of CLL/PL. All CLL/PL utilized members of V(H)1,

V(H)3 and V(H)4 families, with the highest prevalence of the V(H)1-69 gene. In

all but one cases analyzed, the V(H) genes were unmutated. The FISH and HR-CGH

analyses showed frequent occurrence of trisomy 12, del(11)(q23), del(17)(p13)

and genetic imbalances, but recurrent genetic lesion characteristic for CLL/PL

was not found. The follow-up HR-CGH analysis of two cases showed that increase

of prolymphocytes in the course of CLL or CLL/PL are associated with clonal

evolution and selection of the tumour clone. In conclusion, this study suggests

that CLL/PL is a relatively homogeneous disease regarding V(H) gene mutation,

but heterogeneous regarding genetic lesions. The heterogeneity and high number

of genomic imbalances found in CLL/PL suggest that a genome-wide instability of

the neoplastic cells may play a role in the development of the disease.

Copyright © 2007 Wiley & Sons, Ltd.

PMID: 17410523