Acute lymphoblastic leukemia (ALL) in infants is characterized by a high frequency of MLL gene rearrangements. By contrast, the t(12;21) ETV6-RUNX1 fusion gene is typically detected in children older than 2 years. In a series of Brazilian infant leukemia cases, however, four younger cases harbored ETV6-RUNX1, at ages 2, 3, 5, and 7 months. This finding could represent a unique model for delineating the additional genomic hits required to accelerate the emergence of a frank leukemia in these t(12;21)-positive cases. We applied a whole-genome copy number analysis with single-nucleotide polymorphism (SNP) arrays, comparing t(12;21) infants with older pediatric age groups. Recurrent deletions, including 9p21.3 (CDKN2A, CKDN2B, and MTAP), 11p13 (CD44), 12p13.2 (ETV6), and patient-specific abnormalities were identified. Although infant cases with t(12;21) did not display specific genetic abnormalities explaining the short latency to overt leukemia, the frequency of copy number abnormalities increased proportionally with age. This novel SNP array analysis in an extremely rare series of cases opens new ideas about the etiology of ETV6-RUNX1-positive ALL.

Emerenciano, M., Bungaro, S., Cazzaniga, G., Dorea, M., Coser, V., Magalhães, I., et al. (2009). ETV6-RUNX1 fusion gene and additional genetic changes in infant leukemia: a genome-wide analysis. CANCER GENETICS AND CYTOGENETICS, 193(2), 86-92 [10.1016/j.cancergencyto.2009.04.021].

ETV6-RUNX1 fusion gene and additional genetic changes in infant leukemia: a genome-wide analysis

Cazzaniga, Giovanni;Biondi, Andrea;
2009

Abstract

Acute lymphoblastic leukemia (ALL) in infants is characterized by a high frequency of MLL gene rearrangements. By contrast, the t(12;21) ETV6-RUNX1 fusion gene is typically detected in children older than 2 years. In a series of Brazilian infant leukemia cases, however, four younger cases harbored ETV6-RUNX1, at ages 2, 3, 5, and 7 months. This finding could represent a unique model for delineating the additional genomic hits required to accelerate the emergence of a frank leukemia in these t(12;21)-positive cases. We applied a whole-genome copy number analysis with single-nucleotide polymorphism (SNP) arrays, comparing t(12;21) infants with older pediatric age groups. Recurrent deletions, including 9p21.3 (CDKN2A, CKDN2B, and MTAP), 11p13 (CD44), 12p13.2 (ETV6), and patient-specific abnormalities were identified. Although infant cases with t(12;21) did not display specific genetic abnormalities explaining the short latency to overt leukemia, the frequency of copy number abnormalities increased proportionally with age. This novel SNP array analysis in an extremely rare series of cases opens new ideas about the etiology of ETV6-RUNX1-positive ALL.
Articolo in rivista - Articolo scientifico
Child; Child, Preschool; Core Binding Factor Alpha 2 Subunit; Female; Humans; In Situ Hybridization, Fluorescence; Infant; Male; Oncogene Proteins, Fusion; Polymorphism, Single Nucleotide; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Gene Fusion; Genome-Wide Association Study;
English
2009
193
2
86
92
none
Emerenciano, M., Bungaro, S., Cazzaniga, G., Dorea, M., Coser, V., Magalhães, I., et al. (2009). ETV6-RUNX1 fusion gene and additional genetic changes in infant leukemia: a genome-wide analysis. CANCER GENETICS AND CYTOGENETICS, 193(2), 86-92 [10.1016/j.cancergencyto.2009.04.021].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/299725
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