Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz

Logo MUG-Forschungsportal

Gewählte Publikation:

SHR Neuro Krebs Kardio Lipid

Borbas, P; Leithner, A; Sadoghi, P; Berndt, A; Liegl, B; Haas, OA.
Clonality assessment in a case of multifocal adamantinoma and a review of the literature.
Case Rep Med. 2012; 2012(1):605685-605685 [OPEN ACCESS]
PubMed PUBMED Central FullText FullText_MUG

 

Autor/innen der Med Uni Graz:
Borbas Paul
Leithner Andreas
Liegl-Atzwanger Bernadette
Sadoghi Patrick
Altmetrics:

Dimensions Citations:

Plum Analytics:
Number of Figures: 9
| | | | | | | | |
Abstract:
Adamantinoma is a low-grade, malignant biphasic bone tumour predominantly located in the tibia. In up to 50% of all cases this is combined with one or more lesions in the ipsilateral fibula. Whether these lesions represent regional metastases or arise de novo is not yet exactly known. In order to address this question, we extracted DNA from the respective fresh frozen tumour tissues in a case of a young woman with a multifocal adamantinoma of both the tibia and ipsilateral fibula. Afterwards the X inactivation pattern was studied by means of methylation-sensitive polymerase chain reaction and primers that target the polymorphic CGG trinucleotide repeat of FMR1 gene and the polymorphic CAG repeat, on exon 1 of the human androgen receptor gene (AR). The analysis of the AR was homozygous and not informative. Studying the FMR1 gene, we detected a 100% skewing of the X inactivation pattern of both locations and found that the same allele was methylated. Even if the fibula lesion arose de novo there would have been a 50 : 50 chance that the same allele was methylated. As this methylation pattern was found we cannot provide a valid explanation for the origin of the fibula lesion. Analysis of X inactivation patterns in future cases of polyfocal adamantinoma might provide further evidence for one of the two theories.

© Meduni Graz Impressum