| Abstract | Proliferacija normalnih stanica ovisi o ravnoteži između kontrolnog djelovanja
protoonkogena i tumorsupresorskih gena. Zloćudna transformacija je povezana s
poremećajem funkcije tih gena. Podjela SZO: AML, ALL, MDS, MDS/MPB i kronične
mijeloproliferativne bolesti (CML, PRV i ET).
U vremensko razdoblju od 2007. - 2011. godine anlizirano je ukupno 657 uzoraka
koštane srži 614 bolesnika, 54 bolesnika praćeno je kroz to vrijeme. Željeli smo prikazati
najučestalije kromosomske promjene ispitanika s leukemijama (akutnim i kroničnim,
limfatičnim ili mijeloičnim), čiji su uzorci koštane srži upućeni na citogenetsko ispitivanje u
Laboratorij za humanu genetiku, Odsjeka za medicinsku genetiku, Kliničkog odjela za dječju
hematologiju, onkologiju, imunologiju i medicinsku genetiku, Klinike za dječje bolesti, KBC
Split. Citogenetsko praćenje bolesnika je važno u postavljanja dijagnoze, nakon uvodne
terapije, u vrijeme relapsa te praćenja minimalne ostatne bolesti.
Naše istraživanje je pokazalo da je najviše oboljelih u skupini odraslih bolesnika te oni
najviše oboljevaju od MDS/MPB (40,7 %), u djece je to ALL (45 %). Veći je udio muškaraca
(56,5 %) u odnosu na žene (43,5%). Analiza kariograma je važna za postavljanje dijagnoze,
praćenje tijeka bolesti i predviđanja ishoda. Prema najnovijim saznanjima katiotipizacija je
najvažnija za postavljanje točne dijagnoze, s liječenjem sene započinje bez prethodne potvrde
vrste kariograma iz koštane srži. |
| Abstract (english) | Proliferation of normal cells depends on the balance between the control and oncogene
activity with gene. Malignant transformation is associated with dysfunction of these genes.
The WHO classification of diseases is as follows: AML, ALL, MDS, MDS/MPD, and chronic
myeloproliferative diseases (CML, PRV and ET).
From 2007. – 2011. year we cytogeneticaly analyzed 657 samples of bone marrow,
from 614 patients, 54 patients have been followed. We wanted to show the most common
chromosomal changes in patients with leukemia (acute and chronic, lymphoid or myeloid),
whose bone marrow samples sent for cytogenetic testing in the Laboratory for Human
Genetics, Department of Medical Genetics, Clinical Department of Pediatric Hematology,
Oncology, Immunology and Medical Genetics, Department of Pediatrics, University Hospital
Center Split. Cytogenetic monitoring of patients is important in the process of diagnosis, after
preliminary treatment at the time of relapse, and monitoring the minimal residual disease.
Our research shows that there is a large number of patients in the group of adults with
hematologycal disordesrs and expecialy those with MDS /MPD (40,7 %), in the group of
children, ALL is most common (45 %). There is a difference between number of men and
women. Kariotyping of bone marrow is important for the diagnosis, monitoring and
predicting the outcome. The chromosomal abberations in the bone marrow is the most
important for establishing an accurate the diagnosis and clinicians are not starting treatment
without confirmation of the karyotype from bone marrow. |
