Prognostički značaj citogenetike u mijelodisplastičnom sindromu

master's thesis

• Title (english): Prognostic value of cytogenetics in myelodysplastic syndrome
• Author: Dražen Perica
• Mentor: Slobodanka Ostojić-Kolonić (mentor)
• Committee member: Slavko Gašparov (predsjednik povjerenstva)
• Committee member: Marko Jakopović (član povjerenstva)
• Committee member: Slobodanka Ostojić-Kolonić (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Internal Medicine); Zagreb
• Defense date and country: 2017-07-14, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Internal Medicine

Abstract

Uvod: Mijelodisplastični sindrom (MDS) je skupina klonalnih hematopoetskih poremećaja koji se očituju jednom ili više citopenija te sklonošću za transformaciju u akutnu mijeloičnu leukemiju. Kariogram pri dijagnozi ima veliku ulogu u stratificiranju ovih bolesnika u različite rizične skupine s obzirom na ishod te bolesti. ----- Ciljevi istraživanja: Cilj ovog istraživanja je bilo odrediti prognostički značaj MDS-a u retrospektivnoj skupini bolesnika liječenih u periodu 1.11.2014. do 1.4.2017. godine u jednoj ustanovi. ----- Metode: Retrospektivno smo analizirali sve povijesti bolesti bolesnika s novo dijagnosticiranim MDSom u Kliničkoj bolnici Merkur. Glavni uključni kriterij je bio postojanje kariograma. ----- Rezultati: U istraživanje je uključen ukupno 30 bolesnika medijana starosti 68.4 godine. Medijan preživljenja ovih bolesnika je bio 13 mjeseci s dvogodišnjim preživljenjem od 24%. U analizi povezanosti bolesnika s kariogramom prema IPSS i IPSS-R prognostičkim indeksima nije bilo statistički značajne povezanosti, vjerojatno zbog malenog broja ispitanika u ovoj skupini. Kao sekundarne ciljeve postavili smo povezanost dijagnoze podtipa prema klasifikaciji SZO i broja blasta u aspiratu koštane srži. U bolesnika s MDS-om RAEB I i II postajala je statička tendencija lošijem preživljenju (p= 0.066) s jasnom separacijom krivulja. Što se tiče broja blasta u koštanoj srži, oni bolesni s manje od 2% blasta su imali bolje ishode s tendencijom prema statističkoj značajnosti (p=0.06). ----- Zaključak: U ovom istraživanju, najvjerojatnije zbog malenog broja bolesnika, nije pokazana povezanost ukupnog preživljenja s nalazom kariograma, no time se ne odbija značaj ove pretrage u MDSu jer su originalne i validacijske studije rađene na puno većem broju ispitanika. Nadalje, medijan preživljenja u našoj skupini je nešto niži od drugih studija što se može obrazložiti nedostupnosti pojedinih lijekova za ovu populaciju. Najvažniji nalaz ovog istraživanja da je uključeno tek 30 bolesnika što ukazuje da u svakodnevnoj praksi ova bolest ostaje dijagnostički zanemarena.

Abstract (english)

Introduction: Myelodysplastic Syndrome (MDS) is a group of clonal haematopoietic disorders that are manifested by one or more cytopenia and have a tendency to transform into acute myeloid leukaemia. Cytogenetic analysis has a significant role in stratifying these patients in different risk groups regarding the outcome of the disease. ----- Research goals: The aim of this study was to determine the prognostic significance of MDS in a retrospective group of patients treated in the period from 1.11. 2014 to 1.4. 2017 in one institution. ----- Methods: The history of illness of the patients with newly diagnosed MDS in the Merkur University Hospital in Zagreb was retrospectively analysed. The main inclusion criteria was the existence of a cytogenetic analysis. ----- Results: The study included a total of 30 patients, the median of age was 68.4 years. The median survival rate of these patients was 13 months with two-year survival rate of 24%. There was no statistically significant correlation between the survival rate and cytogenetic analysis based on the IPSS and the IPSS-R prognostic index, probably due to the small number of subjects in this group. As a secondary objective, the relationship between subtype diagnosis according to the World Health Organization classification and the number of blasts in the aspiration of the bone marrow was analysed. In patients with MDS RAEB I and RAEB II, a static tendency for poorer survival rate (p = 0.066) with a clear separation of curves became apparent. As for the patients with the blasts in their bone marrow, those which had less than 2% of blasts had better outcomes with a tendency towards statistical significance (p = 0.06). ----- Conclusion: In this study, most likely due to the small number of patients, no correlation of total survival rate with the finding of the cytogenetic analysis has been demonstrated, but this does not negate the significance of this diagnostic method for MDS since the original and validation studies were conducted on a much larger number of subjects. Furthermore, median survival rate in our group is somewhat lower than other studies, which may be explained by the unavailability of certain drugs for this population. The most important finding of this study is that only 30 patients are involved in it, which indicates that in daily practice this disease remains diagnostically neglected.

• Keywords: MDS; citogenetika; prognoza
• Keywords (english): MDS; cytogenetics; prognosis
• Language: croatian
• URN:NBN: urn:nbn:hr:105:350536
• Study programme: Title: Medicine; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2018-01-11 13:25:14