PP57. COMPLEX CHROMOSOMAL ABNORMALITIES IDENTIFIED IN CHRONIC MYELOID LEUKEMIA AT DIAGNOSIS
A. LUNGEANU1, A. Arghir1, N. Berbec1,2, S. Chirieac1, G. Mocanu3, S. Angelescu2 1. Victor Babes National Institute, Bucharest, Romania 2. Carol Davila University of Medicine and Pharmacy, Bucharest, Romania 3. Coltea Clinical Hospital, Bucharest, Romania e-mail: agripina_lungeanu@yahoo.com
*Corresponding Author:
page: 73

Abstract

Structural abnormalities other then Philadelphia chromosome represent a rare event in chronic myeloid leukemia (CML) at diagnosis. We present a 58 year-old patient diagnosed with chronic phase CML to whom the cytogenetic investigation revealed t(9;22) and a complex rearrangement of chromosome 8. The patient presented with leucocytosis (WBC 41 x 109/L), thrombocytosis (PLT 900 x 109/L) and hepatosplenomegaly. Classical cytogenetic studies as well as standard FISH techniques were performed. All bone marrow cells, exhibited besides Ph chromosome an acrocentric marker which seemed to be chromosome 8 pericentric inversion, by GTG banding. Using FISH with centromeric and telomeric probes for chromosome 8 allowed us to understand the complex nature of additional rearrangements. Thus, instead of a simple inversion, a translocation involving chromosome 8 and a D group chromosome was revealed. Chromosome 8 aberrations are frequently reported as additional anomalies in CML. The impact of these additional chromosomal abnormalities in CML evolution and treatment outcome remains to be elucidated. Acknowledgements: National Program for Research of Excellence CEEX MIII, Project no. 15/2006, National Program CNCSIS.




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