Allelic loss of selected tumor suppressor genes in acute lymphoblastic leukemia in children

Ewa Studniak; Eliza Maloney; Tomasz Ociepa; Tomasz Urasiński; Katarzyna Skonieczka; Olga Haus; Anna Poluha; Jerzy Kowalczyk; Stanisław Zajączek

doi:10.5114/pjp.2013.36199

eISSN: 2084-9869
ISSN: 1233-9687

Polish Journal of Pathology

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2/2013
vol. 64

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abstract:

Allelic loss of selected tumor suppressor genes in acute lymphoblastic leukemia in children

Ewa Studniak

,

Eliza Maloney

,

Tomasz Ociepa

,

Tomasz Urasiński

,

Katarzyna Skonieczka

,

Olga Haus

,

Anna Poluha

,

Jerzy Kowalczyk

,

Stanisław Zajączek

Pol J Pathol 2013; 2: 121-128

DOI: https://doi.org/10.5114/pjp.2013.36199

Online publish date: 2013/07/15

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Defect in function of tumor suppressor genes may lead to initiation/progression of leukemias. RB1, CDKN2A and TP53 gene alterations are found in acute lymphoblastic leukemia (ALL) in children. Data showing a contribution of these alterations to the pathomechanism of leukemias are contradictory and their impact on a disease course still remains undefined. The main aim of the study was to identify and the characterize of RB1, CDKN2A and TP53 allele loss in ALL children patients at diagnosis. 46 children with de novo ALL were examined. Fluorescent in situ hybridization was performed on bone marrow smear preparations. We demonstrated that at least one of three investigated deletions occurred statistically more frequently in T-lineage leukemia patients (p = 0.044); this was the most frequent in respect to RB1 gene (p = 0.054). Additionally, at least one of the examined deletions was observed statistically more frequently in patients with WBC above 20 000/µl (p = 0.043), this was the most frequent for CDKN2A gene (p = 0.066). Presented results seem to give an evidence that deletions of RB1 and CDKN2A genes may contribute to the development of hyperleukocytic type of T-lineage ALL in children, nevertheless this observation needs further investigations.

keywords:

Allelic loss of selected tumor suppressor genes in acute lymphoblastic leukemia in children

Ewa Studniak , Eliza Maloney , Tomasz Ociepa , Tomasz Urasiński , Katarzyna Skonieczka , Olga Haus , Anna Poluha , Jerzy Kowalczyk , Stanisław Zajączek

RB1, CDKN2A, TP53, ALL, FISH, mono- and bi-allelic loss

Ewa Studniak

,

Eliza Maloney

,

Tomasz Ociepa

,

Tomasz Urasiński

,

Katarzyna Skonieczka

,

Olga Haus

,

Anna Poluha

,

Jerzy Kowalczyk

,

Stanisław Zajączek