Acute leukemias in childhood

Ciljevi istraživanja: Utvrditi ukupan broj djece dobi do 18 godina oboljelih od akutne leukemije, koji su dijagnosticirani i liječeni u Kliničkom bolničkom centru Split, u razdoblju od 1.1.2014. do 31.12.2020. godine. Utvrditi njihovu spolnu i dobnu raspodjelu, analizirati citomorfološke, citokemijske, imunofenotipizacijske i citogenetske karakteristike te ishod bolesti. Ispitanici i metode: Retrospektivno istraživanje provedeno je na Kliničkom zavodu za patologiju, sudsku medicinu i citologiju KBC-a Split. U istraživanje su uključena djeca dobi do 18 godina kojima je akutna leukemija dijagnosticirana temeljem citomorfološkog i citokemijskog nalaza aspiracijske punkcije koštane srži. Uvidom u medicinsku dokumentaciju bolničkog informacijskog sustava i arhive Kliničkog zavoda za patologiju, sudsku medicinu i citologiju KBC-a Split prikupljeni su potrebni podatci. Rezultati: U razdoblju od 01.01.2014. do 31.12.2020. godine dijagnosticirano je i liječeno 28 bolesnika dječje dobi: 61% djevojčica i 39% dječaka. Medijan životne dobi bio je 3 godine (min-max, 3 mjeseca - 17 godina i 7 mjeseci). Najveći broj liječene djece je u dobnoj skupini od 1 do 3 godine (46%). U 86% ispitanika dijagnosticirana je akutna limfoblastična leukemija, dok je u 11% ispitanika dijagnosticirana akutna mijeloična leukemija. U jedne ispitanice postavljena je dijagnoza promijelocitne leukemije. Među dijagnosticiranim limfoblastičnim leukemijama dominira akutna limfoblastična leukemija B imunofenotipa u 96% ispitanika i to common-B ALL u 91% ispitanika. U 9% ispitanika dijagnosticirana je pre-B ALL. Prosječan broj blasta po uzorku koštane srži je 64% (min-max, 24-98). PAS pozitivni blasti prisutni su u 50% uzoraka bojenih PAS metodom, dok je fokalna pozitivnost uočena u 4% uzoraka. Mijeloperoksidaza (POX) pozitivni blasti prisutni su u 4% uzoraka bojenih POX metodom, dok su POX negativni blasti dijagnosticirani u 65% uzoraka. Samo fokalno pozitivno bojenje na ANAE prisutno je u jednog ispitanika u kojih je primijenjeno ANAE citokemijsko bojenje. Negativni ANAE blasti prisutni su u 31% uzoraka. Citogenetskom analizom uredan kariogram prisutan je u 23% ispitanika dok su u 31% ispitanika nađene istovremeno i strukturne i numeričke promjene. U 89% pacijenata nakon primijenjenog liječenja na Pedijatrijskom odjelu KBC Split postignuta je remisija.Zaključak: U ispitivanom razdoblju akutna leukemija dijagnosticirana je u 28 pacijenata dječje dobi uz predominaciju limfoblastične leukemije B imunofenotipa. Tijekom liječenja u Kliničkom bolničkom centru Split postignuta je remisija u većine bolesnika. Citomorfološka analiza koštane srži i razmaza periferne krvi nadopunjena citokemijom još uvijek je temeljna dijagnostička pretraga na osnovu koje se postavlja dijagnoza akutne leukemije i indicira daljnja obrada.Objectives: The purpose of this study was to determine the total number of children under 18 years with acute leukemia, diagnosed and treated at the University Hospital of Split between 1.1.2014 and 31.12.2020., in relation to age and gender as well as to analyze cytomorphological, cytochemical, immunophenotyping and cytogenetic characteristics and disease outcomes. Subjects and methods: A retrospective study was conducted at the Clinical Department of Pathology, Forensic Medicine and Cytology of the University Hospital of Split. Study included patients up to 18 years of age who were diagnosed with acute leukemia based on cytomorphological and cytochemical findings on bone marrow aspirates. The medical records were retreved from data base and archives of the Clinical Department of Pathology, Forensic Medicine and Cytology, University Hospital of Split. Results: Between 01.01.2014 and 31.12.2020, 28 children were diagnosed and treated for acute leukemia: 61% were girls and 39% were boys. Median age was 3 years (ranged 3 months-17 years and 7 months). The majority of children were in the 1-3 years age group (46%). In 86% of children acute lymphoblastic leukemia was diagnosed, whereas acute myeloid leukemia was diagnosed in 11% of cases. One child was diagnosed as promyelocytic leukemia. Among the diagnosed lymphoblastic leukemias, B immunophenotype dominated in 96% cases and 91% of them were common-B ALL. Pre-B ALL immunophenotype was diagnosed in 9% of cases. The average number of blasts per bone marrow aspirate were 64% (min-max, 24-98). PAS positive blasts are present in 50% of samples analyzed by PAS method, while focal positivity is noted in 4% of samples. Myeloperoxidase (POX) positive blasts are present in 4% of aspirates analyzed by POX method, while POX negative blasts were diagnosed in 65% of aspirates. Focal ANAE positivity was present in one case. Negative ANAE blasts were present in 31% of samples. Cytogenetic analysis showed no chromosomal abnormalities in 23% of children, while both structural and numerical abnormalities were found in 31% of children. During therapy administered at the Pediatric Department, University Hospital of Split, remission was achieved in 89% of children. Conclusion: In the study period, acute leukemia were diagnosed in 28 children, most of which are acute lymphoblastic leukemia of B immunophenotype. During therapy remission was achieved in most patients. Cytomorphologic analysis of bone marrow aspirates and periferal blood smears, supplemented by cytochemistry is still the basic method for acute leukemia diagnosis and the method by which additional analysis are indicated