Τίτλος:
High resolution Chromosomal Microarray Analysis (CMA) enhances the genetic profile of pediatric B-cell Acute Lymphoblastic Leukemia patients
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Acute Lymphoblastic Leukemia (ALL) is a malignancy of the immature lymphoid cells mainly associated with numerical and structural chromosomal aberrations. The current standard for profiling the diverse genetic background comprises a combination of conventional karyotype and FISH analysis for the most common translocations, albeit with many limitations. Chromosomal Microarray Analysis (CMA) is a high throughput whole genome method that is gradually implemented in routine clinical practice, but not many studies have compared the two methods. Here we aim to investigate the added benefits of utilizing the high resolution 2 x 400 K G3 CGH + SNP CMA platform in routine diagnostics of pediatric ALL. From the 29 bone marrow samples that were analyzed, CMA identified clinically relevant findings in 83%, while detecting chromosomal aberrations in 75% of the patients with normal conventional karyotype. The most common finding was hyperdiploidy (20%), and the most common submicroscopic aberration involved CDKN2A/B genes. The smallest aberration detected was a 9 kb partial NF1 gene duplication. The prognosis of the patients when combining conventional cytogenetics and CMA was either changed or enhanced in 66% of the cases. A rare duplication possibly indicative of a cryptic ABL1-NUP214 fusion gene was found in one patient. We conclude that CMA, when combined with conventional cytogenetic analysis, can significantly enhance the genetic profiling of patients with pediatric ALL in a routine clinical setting. © 2019 Elsevier Ltd
Συγγραφείς:
Mitrakos, A.
Kattamis, A.
Katsibardi, K.
Papadhimitriou, S.
Kitsiou-Tzeli, S.
Kanavakis, E.
Tzetis, M.
Περιοδικό:
Leukemia Research
Εκδότης:
Elsevier Ireland Ltd
Λέξεις-κλειδιά:
ABL1 gene; acute lymphoblastic leukemia; adolescent; Article; bone marrow; cancer prognosis; CDKN2A gene; CDKN2B gene; child; chromosomal microarray analysis; chromosome aberration; clinical article; clinical feature; cytogenetics; female; fusion gene; gene; gene replication; genetic association; human; karyotype; male; microarray analysis; NF1 gene; NUP214 gene; preschool child; priority journal; school child; acute lymphoblastic leukemia; blood; clinical trial; DNA microarray; genetics; infant; ploidy, tumor protein, Adolescent; Child; Child, Preschool; Female; Humans; Infant; Male; Neoplasm Proteins; Oligonucleotide Array Sequence Analysis; Ploidies; Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
DOI:
10.1016/j.leukres.2019.106177
