Chromosomal analysis of anaplastic ependymoma and diffuse astrocytoma presenting as synchronous primary brain tumors in a child (case report)
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| Year of publication | 2011 |
| Type | Conference abstract |
| MU Faculty or unit | |
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| Description | The simultaneous occurrence of multiple primary brain tumors with different cell types in children is extremely rare. The authors describe the case of 7-year old boy who presented with a short history of intracranial hypertension. MR imaging showed two brain masses with different MR characteristics. Pathological examination revealed the posterior fossa tumor and temporal tumor to be anaplastic ependymoma and diffuse astrocytoma, respectively. Chromosome analysis of anaplastic ependymoma revealed clone with 47,XY,+der(1)t(1;19), der(6)t(1;6) karyotype. Oligonucleotide array-CGH with Human Genome CGH Microarray 44K (Agilent Technologies) confirmed duplications of long arm of chromosome 1 and short arm of chromosome 19 as well as the deletion of (6)(q12qter) region. Fluorescence in situ hybridization (FISH) with whole chromosome painting probes for chromosomes 1 and 19 disclosed translocation between these two chromosomes. Molecular genetic analysis of RB1 gene, TP53 gene and NF2 genes at the level of nucleic acids based on direct sequencing and MLPA did not revealed any changes in comparison with health control. Cytogenetic analysis of diffuse astrocytoma was not possible because the lesion in the right temporal lobe was only stored in paraffin. There also was not enough material for successful DNA extraction from paraffin-embedded tissue. FISH was the only examination performed to paraffin-embedded tissue using standard procedures. Diffuse astrocytoma was negative for all chromosomal abnormalities found in anaplastic ependymoma (no trisomy of 1q, or 19p chromosome arm, no deletion of 6q region). It was also negative for trisomy of chromosome 7 which is one of the most frequent chromosomal abnormalities found in diffuse astrocytomas. The child was subsequently treated by conformal iradiation on the ependymoma, no specific adjuvant treatment for the diffuse astrocytoma was initiated. The boy is now on follow-up with the continuing remission. This case documents a rare situation when disclosure of two intracranial tissues does not naturally mean dissemination of the primary tumor and that i tis necessary to extrakt also the other tissues in the native form as a subject of the molecular analysis. |
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