Faculty of Medicine
Library of the School of Health Sciences

2020-07-03

2020

Mitrakos Anastasios

Καναβάκης Εμμανουήλ, Ομότιμος Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Παναγιωτίδης Παναγιώτης, Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Τσολιά Μαρία, Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Συνοδινού Ιωάννα - Ραχήλ, Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Καττάμης Αντώνης, Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Τζέτη Μαρία, Αναπληρώτρια Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ, Επιβλέπουσα
Τσιριγώτης Παναγιώτης, Αναπληρωτής Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ

Μελέτη υπομικροσκοπικών γονιδιωματικών αλλοιώσεων σε ασθενείς με παιδιατρικές αιματολογικές κακοήθειες με τη μέθοδο του συγκριτικού γενωμικού υβριδισμού σε μικροσυστοιχίες (aCGH)

Greek

Identification and interpretation of submicroscopic genomic aberrations in pediatric patients with hematological malignancies through the use of array Comparative Genomic Hybridization (aCGH)

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.

Health Sciences

array Comparative Genomic Hybridization, aCGH, Hematological malignancies, Copy Number Variants, CNVs, Chromosomal Microarray Analysis, CMA

No

0

Yes

107

143

File access is restricted only to the intranet of UoA.

https://pergamos.lib.uoa.gr/uoa/dl/object/2918087