Clonality Assessment in a Case of Multifocal Adamantinoma and a Review of the Literature

Abstract EN

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.