Molecular Cytogenetic Analysis of Chromosomal Aberrations in Cells of Low Grade Gliomas and Its Contribution for Tumour Classification

Česká verzia

Authors: H. Lhotská ¹; Z. Zemanová ¹; F. Kramář ²; L. Lizcová ¹; K. Svobodová ¹; Š. Ransdorfová ³; D. Bystřická ¹; Z. Krejčík ³; P. Hrabal ²; A. Dohnalová ⁴; M. Kaiser ⁵; K. Michalová ¹
Authors place of work: Centrum nádorové cytogenetiky, Ústav lékařské biochemie a laboratorní diagnostiky 1. LF UK a VFN v Praze ¹; Oddělení neurochirurgie, 1. LF UK a ÚVN Praha ²; Oddělení cytogenetiky, Ústav hematologie a krevní transfuze, Praha ³; Fyziologický ústav, 1. LF UK v Praze ⁴; Neurochirurgie, Krajská nemocnice Liberec ⁵
Published in the journal: Klin Onkol 2014; 27(3): 183-191
Category: Original Articles

Summary

Background:
Low-grade gliomas represent a heterogeneous group of primary brain malignancies. The current diagnostics of these tumors rely strongly on histological classification. With the development of molecular cytogenetic methods several genetic markers were described, conributing to a better distinction of glial subtypes. The aim of this study was to assess the frequency of acquired chromosomal aberrations in low‑ grade gliomas and to search for new genomic changes associated with higher risk of tumor progression.

Patients and Methods:
We analysed biopsy specimens from 41 patients with histological diagnosis of low-grade glioma using interphase fluorescence in situ hybridization (I‑ FISH) and single nucleotide polymorphism (SNP) array techniques (19 females and 22 males, medium age 42 years).

Results:
Besides notorious and most frequent finding of combined deletion of 1p/ 19q (81.25% patients) several other recurrent aberrations were described in patients with oligodendrogliomas: deletions of p and q arms of chromosome 4 (25% patients), deletions of the short arms of chromosome 9 (18.75% patients), deletions of the long arms of chromosome 13 and monosomy of chromosome 18 (18.75% patients). In biopsy specimens from patients with astrocytomas, we often observed deletion of 1p (24% patients), amplification of the long arms of chromosome 7 (16% patients), deletion of the long arm of chromosome 13 (20% patients), segmental uniparental disomy (UPD) of the short arms of chromosome 17 (60% patients) and deletion of the long arms of chromosome 19 (28% patients). In one patient we detected a shuttered chromosome 10 resulting from chromothripsis.

Conclusion:
Using a combination of I‑ FISH and SNP array, we detected not only known chromosomal changes but also new or less frequent recurrent aberrations. Their role in cancer‑ cell progression and their impact on low‑ grade gliomas classification remains to be elucidated in a larger cohort of patients.

Key words:
oligodendroglioma – astrocytoma – SNP array – interphase FISH – glioma

This work was supported by grants of Internal Grant Agency of the Czech Ministry of Health No. NT/13212-4, PRVOUK-P27/LF1/1 a RVO-VFN64165.

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial Board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers.

Submitted:
5. 11. 2013

Accepted:
29. 1. 2014

Zdroje

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