Desmoplastic infantile astrocytoma and ganglioglioma: a search for genomic characteristics

Abstract

In the present study the clinical data, histology, proliferation rate, DNA ploidy status and the results of TP53 mutation analysis and comparative genomic hybridization (CGH) of three typical cases of desmoplastic infantile astrocytoma and ganglioglioma are presented. Postoperative disease-free intervals of 11, 8 and 3 years were recorded and in none of the cases were radiological signs of tumor recurrence. No TP53 mutations (exons 5-8) were found. CGH analysis revealed loss of 8p22-pter in one case, while in another case gain of 13q21 was detected. In the case with the follow-up of 11 years an aneuploid DNA-flow cytogram along with slightly increased MIB-1 labeling index (LI) was found. The results demonstrate little genetic instability in these low-grade lesions. DNA-aneuploidy seems not to be indicative of tumor progression. It is concluded that the genetic aberrations found in desmoplastic infantile ganglioglioma differ from those encountered in common astrocytomas.

Desmoplastic infantile ganglioglioma. Morphological, immunohistochemical and genetic features

“…Cytogenetic analysis has been carried out in only four cases 12–15 . All demonstrated a normal karyotype and/or non‐clonal aberrations affecting chromosomes 5q, 9p, 11q, 14q, 17p and 22q.…”

Genome-Wide DNA Copy Number Analysis of Desmoplastic Infantile Astrocytomas and Desmoplastic Infantile Gangliogliomas

“…Classic cytogenetic studies have been performed in a limited number of cases. The only 3 cases studied with comparative genomic hybridization did not show consistent gains or losses (3,16). Molecular studies of DIA revealed no loss of heterozygosity on chromosome 10 or 17 (3,13).…”

Desmoplastic infantile ganglioglioma with calcification

“…However, the MIB‐1 (mind bomb homolog‐1 (drosophila)) labeling index in the undifferentiated areas has been found to be low (0.5–1.5%) 17 . A few studies on the molecular genetics of DIGs have shown breakpoints on several chromosomes, 18 losses on 8p, and gains on 13q by comparative genomic hybridization techniques 19 …”