Primjena fluorescencijske hibridizacije in situ u dijagnostici kronične limfocitne leukemije

master's thesis

• Title (english): Application of fluorescence hybridization in situ in diagnosis of chronic lymphocytic leukemia
• Author: Stanka Sudar
• Mentor: Inga Marijanović (mentor)
• Mentor: Sanja Davidović-Mrsić (mentor)
• Committee member: Inga Marijanović (predsjednik povjerenstva)
• Committee member: Sanja Davidović-Mrsić (član povjerenstva)
• Committee member: Željka Vidaković-Cifrek (član povjerenstva)
• Granter: University of Zagreb; Faculty of Science; (Department of Biology); Zagreb
• Defense date and country: 2012-02-23, Croatia
• Scientific / art field, discipline and subdiscipline: NATURAL SCIENCES; Biology

Abstract

Kronična limfocitna leukemija je maligno oboljenje hematopoetskog tkiva koje nastaje nakupljanjem limfocita B u koštanoj srži, perifernoj krvi, limfnim čvorovima i drugim organima. Javlja se češće u muškaraca nego u žena te u osoba starije životne dobi. Molekularna citogenetička metoda, fluorescencijska hibridizacija in situ (FISH) omogućila je detekciju numeričkih i strukturnih promjena pomoću pet sondi obilježenih određenim fluoroforom. Analizirano je 100 ispitanika, od kojih 54 pripadnika muške populacije i 46 ženske populacije. Kod 68% pacijenata je detektirana prisutnost kromosomskih aberacija, a 32% pacijenata je imalo normalan kariotip za ispitivane kromosomske aberacije. Najučestalija kromosomska aberacija je delecija dugog kraka kromosoma 13 (57%), delecija gena p53 (24%), trisomija kromosoma 12 (22%) i naposljetku delecija 11q22.3 (10%). Metoda FISH omogućuje detekciju poremećaja u više od 80% pacijenata KLL-a i može pomoći u dijagnozi bolesti, prognozi i odabiru terapije.

Abstract (english)

Chronic lymphocytic leukemia is a malignant disease of hematopoietic tissue which caused accumulation of B-lymphocytes in the bone marrow, peripheral blood, lymph nodes and others organ. It occurs more often in males than females and tends to affect older patients. The molecular cytogenetic method, fluorescence hybridization in situ (FISH), makes it possible to identify numerical and structural aberrations by using five probes labeled with specific fluorescent dyes. One hundred CLL patients were studied, 54 males and 46 females. In 68% of patients are detected chromosomal abnormalities and 32% had normal karyotypes for specific chromosomal aberrations. The most frequent aberrations are in the long arm of chromosome 13 (57%), deletions of gene p53 (24%), trisomy of chromosome 12 (22%) and finally deletions of 11q22.3 (10%). Using FISH analysis, more than 80% CLL patients show one or more cytogenetic defect and FISH is helpful in diagnosis, prognosis and evaluation of therapy for CLL.

• Keywords: KLL; genomske aberacije; gen ATM; gen p53
• Keywords (english): CLL; genomic aberrations; gene ATM; gene p53
• Language: croatian
• URN:NBN: urn:nbn:hr:217:677506
• Study programme: Title: Molecular Biology; Study programme type: university; Study level: graduate; Academic / professional title: magistar/magistra molekularne biologije (magistar/magistra molekularne biologije)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Access restricted to students and staff of home institution
• Created on: 2017-05-02 11:35:30