Balkan Journal of Medical Genetics

CREBBP IS A MAJOR PROGNOSTIC BIOMARKER FOR RELAPSE IN CHILDHOOD B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA: A NATIONAL STUDY OF UNSELECTED COHORT
Krstevska Bozhinovikj E1, Matevska-Geshkovska N1, Staninova Stojovska M1, Gjorgievska E1, Jovanovska A2, Kocheva S2*, Dimovski A1,3*
*Corresponding Author: *Corresponding Authors: Prof. Aleksandar Dimovski MD PhD. Center for Biomolecular Pharmaceutical Analyses, Faculty of Pharmacy, University Ss. Cyril and Methodius in Skopje, Mother Theresa 47, 1000 Skopje, N. Macedonia adimovski@ff.ukim.edu.mk; phone number: +38923119694 ext109; Research Center for Genetic Engineering and Biotechnology “Georgi D. Efremov”, Macedonian Academy of Sciences and Arts, Bul. Krste Misirkov 2, 1000, Skopje, N. Macedonia, a.dimovski@manu.edu.mk; phone number: +38923235411
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Abstract

Although the identification of disease subtypes con- veying prognostic significance along with minimal resid- ual disease (MRD) assessment represent cornerstones for stratification in childhood acute lymphoblastic leukemia (ALL), approximately half of the relapses occur in patients from standard-risk groups. Identification of the drivers of treatment failure is crucial for detection of high-risk clones at diagnosis. We evaluated clinical variables and the most common genetic alterations in an unselected cohort of 55 patients with B-ALL treated according to the ALL- IC-BFM 2002 protocol, with a median follow-up of 46 months. Matched diagnosis-relapse samples underwent screening for additional alterations using whole-exome sequencing. Mutations in the CREBBP gene were found in 80% (4/5) of the patients with relapse, either present from the disease onset or acquired at relapse, while none of the examined patients in remission presented alterations in this gene. Deletions in TP53 and EBF1 (present in 2/5 and 1/5 of the patients with relapse, respectively) were infrequent or absent in the patients in remission, respectively. Screen- ing for alterations in the CREBBP gene at diagnosis and/ or at multiple time-points during chemotherapy could be incorporated into treatment protocols, as it may contribute to the identification of significant number of patients with predefined or acquired chemoresistant clones.

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