4. Hrvatski kongres kliniËke citologije 4th Croatian Congress ... - Penta

4. Hrvatski kongres kliniËke citologije / 1. Hrvatski simpozij analitiËke citologije / 2. Hrvatski simpozij citotehnologije
were similar between JAK2-mutant and wild-type leukemias and included alterations of
RUNX1, WT1 and TP53. Loss of the JAK2 mutation by mitotic recombination, gene conversion
or deletion was excluded in all wild-type AMLs. In some patients, mutations in
TP53, CBL or TET2 were present in JAK2 wild-type leukemic blasts, but absent from the
JAK2-mutant MPN, demonstrating that in some patients TET2 mutations are present
in a clone distinct from that harboring a JAK2 mutation. By contrast in a chronic phase
patient, different clones harboring mutations in JAK2 or MPL represented the progeny of
a shared TET2-mutant ancestral clone. These data uncover further clonal heterogeneity
in the MPN.
rkusec@irb.hr
CYTOGENETIC RESULTS IN 24 CASES OF MULTIPLE MYELOMA: SHORT REPORT
Lasan Trčić R1 , Kardum Skelin I2 , Šušterčić D2 , Planinc-Peraica A2 , Ajduković R3 ,
Hariš V3 , Kušec R3 , Begović D1 1Cytogenetic Laboratory, Department of Pediatrics, University Hospital Zagreb, Zagreb,
Croatia
2 Department of Internal Medicine, Merkur University Hospital, Zagreb, Croatia
3Clinical Institute of Laboratory Diagnostics, Dubrava University Hospital, Zagreb,
Croatia
Great studies of multiple myeloma (MM) strongly suggested that specific chromosomal
changes are of prognostic significance in patients with MM1. We have performed cytogenetic
analysis and recently fluorescent in situ hybridization (FISH) on 43 cases of
MM. Clonal chromosomal changes were present in 24 (56%) cases. Hyperdiploid karyotype
was found in 12 (50%) cases, hypodiploid in 8 (33%) cases, and 4 (17%) cases
had a pseudodiploid karyotype. The most common numerical abnormalities were gains
of whole chromosomes 15, 11, 3 and 6. Whole chromosome losses were also frequent
involving chromosomes X, 13, 14, and 8. Most cases showed also structural rearrangments
(n=17, 71%): del(1p), dup(1q), del(5q), del(13q), del(17p) and t(11;14)(q13;q32) (n=4,
17%). Chromosome -13/13q deletion was found in 42% (n=10) cases; complete loss of 13
was observed in 67% (n=7) cases, whereas 33% (n=3) had interstitial deletions. In the
majority of the cases there was a mixture of abnormal and normal metaphases.
lasan.ruzica@hotmail.com
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Analitička citologija - Plenarna i pozvana predavanja