Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2020 Jun 26:13:25.
doi: 10.1186/s13039-020-00491-5. eCollection 2020.

Identifying novel genetic alterations in pediatric acute lymphoblastic leukemia based on copy number analysis

Jéssica Almeida Batista-Gomes  1 , Fernando Augusto Rodrigues Mello Jr  1 , Edivaldo Herculano Corrêa de Oliveira  2 , Michel Platini Caldas de Souza  2 , Alayde Vieira Wanderley  3 , Laudreisa da Costa Pantoja  3 , Ney Pereira Carneiro Dos Santos  1 , Bruna Cláudia Meireles Khayat  1 , André Salim Khayat  1
Affiliations

Identifying novel genetic alterations in pediatric acute lymphoblastic leukemia based on copy number analysis

Jéssica Almeida Batista-Gomes et al. Mol Cytogenet. .

Abstract

Copy number variations (CNVs) analysis may reveal molecular biomarkers and provide information on the pathogenesis of acute lymphoblastic leukemia (ALL). We investigated the gene copy number in childhood ALL by microarray and select three new recurrent CNVs to evaluate by real-time PCR assay: DMBT1, KIAA0125 and PRDM16 were selected due to high frequency of CNVs in ALL samples and based on their potential biological functions in carcinogenesis described in the literature. DBMT1 deletion was associated with patients with chromosomal translocations and is a potential tumor suppressor; KIAA0125 and PRDM16 may act as an oncogene despite having a paradoxical behavior in carcinogenesis. This study reinforces that microarrays/aCGH is it is a powerful tool for detection of genomic aberrations, which may be used in the risk stratification.

Keywords: ALL (acute lymphoblastic leukemia) childhood leukemia; Copy number variations; DMBT1; KIAA0125; PRDM16.

PubMed Disclaimer

Conflict of interest statement

Competing interestsThe authors declared that they have no conflict of interest.

Figures

Fig. 1
Fig. 1
Frequency of copy number variation of PRDM16, KIAA0125 and DMBT1 identified by aCGH and qPCR. aCGH for 16 samples; qPCR for 48 samples. AMP: amplification; DEL: deletion
Fig. 2
Fig. 2
Copy number of PRDM16, KIAA0125 and DMBT1 in ALL samples identified by qPCR
See this image and copyright information in PMC

Similar articles

See all similar articles

References

    1. Scheurer ME, Bondy ML, Gourney JG. Epidemiology of childhood cancer. In: Pizzo PA, Poplack DG, editors. Principles and practice of pediatric oncology. Pennsylvania: Williams and Wilkins; 2011. pp. 2–16.
    1. INCA - Instituto Nacional do Câncer. Estimativa 2020 - Incidência de câncer no Brasil. http://www.inca.gov.br. Acessed 17 fev 2020.
    1. Bacher U, Kohlmann A, Haferlach T. Gene expression profiling for diagnosis and therapy in acute leukaemia and other haematologic malignancies. Cancer Treat Rev. 2010. 10.1016/j.ctrv.2010.05.002. - PubMed
    1. Forero-Castro M, Robledo C, Benito R, Abáigar M, África Martín A, Arefi M, et al. Genome-wide DNA copy number analysis of acute lymphoblastic leukemia identifies new genetic markers associated with clinical outcome. PLoS One. 2016. 10.1371/journal.pone.0148972. - PMC - PubMed
    1. Hamadeh L, Enshaei A, Schwab C, Alonso CN, Attarbaschi A, Barbany G, et al. Validation of the United Kingdom copy-number alteration classifier in 3239 children with B-cell precursor ALL. Blood Adv. 2019. 10.1182/bloodadvances.2018025718. - PMC - PubMed

LinkOut - more resources