SULM – Schweizerische Union für Labormedizin | Union Suisse de Médecine de Laboratoire | Swiss Union of Laboratory Medicine

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F Wenzel1 , S Jenni1 , A Buser2 , S Meyer-Monard2 , A Tichelli2 , P Miny1

1Universitätskinderspital beider Basel (UKBB), Abt. Medizinische Genetik, Römergasse 8, CH-4058 Basel, Schweiz, 2Universitätsspital Basel, Abt. Hämatologie, Petersgraben 4, CH-4031 Basel, Schweiz

Cytogenetic diagnosis of chronic lymphocytic leukemia (CLL) has been hampered by technical problems for many years till the development of interphase FISH allowed more precise access to genetic diagnosis. Basing on the work of Döhner (2000) we set up a similar interphase FISH screening for the main CLL-related chromosome aberrations. Using bone marrow or peripheral blood probes of 145 CLL patients we apply commercially available DNA-probes (ABBOTT/VYSIS and Q-BIOgene) on the basis of standard interphase FISH technique.
About 73% of the analysed patients showed at least one chromosomal aberration by interphase FISH. The most frequent aberration (53%) was deletion 13q14 with different sizes. Further chromosome aberrations are deletion 11q22 (ATM2, 12%), trisomy 12 (13%), deletion 17p13 (p53, 7%), deletion 6q21 (3%), amplification 8q24 (c-myc, 5%) and trisomy 3 (7%). Translocations involving the IGH-locus on 14q32 have been found only in few cases. Nearly 25% of the patients showed multiple chromosome aberrations with up to four different anomalies. Comparison of interphase and metaphase FISH often revealed different clonal growth.
In conclusion interphase FISH has been established as a powerful tool in genetic CLL-diagnosis when looking at well defined chromosome aberrations. However it always has to be considered that conventional cytogenetics allows detection of unexpected or complex rearrangements which not might be catched by interphase FISH.

Döhner H, Stilgenbauer S, Benner A, et al. New Engl J Med 2000; 343: 1910–6

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