Chromosomal analysis of anaplastic ependymoma and diffuse
astrocytoma presenting as synchronous primary brain tumors in a
child (case report)

a 2011

Chromosomal analysis of anaplastic ependymoma and diffuse astrocytoma presenting as synchronous primary brain tumors in a child (case report)

FILKOVÁ, Hana, Zdeněk PAVELKA, Vladimíra VRANOVÁ, Lenka TOMÁŠIKOVÁ, Iveta VALÁŠKOVÁ et. al.

Základní údaje

Originální název

Chromosomal analysis of anaplastic ependymoma and diffuse astrocytoma presenting as synchronous primary brain tumors in a child (case report)

Název anglicky

Chromosomal analysis of anaplastic ependymoma and diffuse astrocytoma presenting as synchronous primary brain tumors in a child (case report)

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Vydání

8th European cytogenetic conference, 2011

Další údaje

Typ výsledku

Konferenční abstrakt

Utajení

není předmětem státního či obchodního tajemství

Impakt faktor

Impact factor: 3.087

Organizační jednotka

Lékařská fakulta

ISSN

Klíčová slova česky

astrocytom, ependymom

Klíčová slova anglicky

asrocytoma, ependymoma

Změněno: 14. 9. 2011 11:40, Mgr. Hana Filková

Anotace

V originále

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.

Návaznosti

MSM0021622415, záměr

Název: Molekulární podstata buněčných a tkáňových regulací

Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, Molekulární podstata buněčných a tkáňových regulací

Citovat

FILKOVÁ, Hana, Zdeněk PAVELKA, Vladimíra VRANOVÁ, Lenka TOMÁŠIKOVÁ, Iveta VALÁŠKOVÁ, Jiří VENTRUBA, Leoš KŘEN, Jarmila SKOTÁKOVÁ, Klára DRÁBOVÁ, Karel ZITTERBART a Jaroslav ŠTĚRBA. Chromosomal analysis of anaplastic ependymoma and diffuse astrocytoma presenting as synchronous primary brain tumors in a child (case report). In 8th European cytogenetic conference. 2011. ISSN 0967-3849.

@proceedings{950063,
   author = {Filková, Hana and Pavelka, Zdeněk and Vranová, Vladimíra and Tomášiková, Lenka and Valášková, Iveta and Ventruba, Jiří and Křen, Leoš and Skotáková, Jarmila and Drábová, Klára and Zitterbart, Karel and Štěrba, Jaroslav},
   booktitle = {8th European cytogenetic conference},
   keywords = {asrocytoma, ependymoma},
   title = {Chromosomal analysis of anaplastic ependymoma and diffuse astrocytoma presenting as synchronous primary brain tumors in a child (case report)},
   year = {2011}
}

TY  - CONF
ID  - 950063
AU  - Filková, Hana - Pavelka, Zdeněk - Vranová, Vladimíra - Tomášiková, Lenka - Valášková, Iveta - Ventruba, Jiří - Křen, Leoš - Skotáková, Jarmila - Drábová, Klára - Zitterbart, Karel - Štěrba, Jaroslav
PY  - 2011
TI  - Chromosomal analysis of anaplastic ependymoma and diffuse astrocytoma presenting as synchronous primary brain tumors in a child (case report)
KW  - asrocytoma, ependymoma
N2  - 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.
ER  -

FILKOVÁ, Hana, Zdeněk PAVELKA, Vladimíra VRANOVÁ, Lenka TOMÁŠIKOVÁ, Iveta VALÁŠKOVÁ, Jiří VENTRUBA, Leoš KŘEN, Jarmila SKOTÁKOVÁ, Klára DRÁBOVÁ, Karel ZITTERBART a Jaroslav ŠTĚRBA. Chromosomal analysis of anaplastic ependymoma and diffuse astrocytoma presenting as synchronous primary brain tumors in a child (case report). In \textit{8th European cytogenetic conference}. 2011. ISSN~0967-3849.

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