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

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.

Adamantinoma Arising in the Distal End of the Fibula

“…Borbas et al reported a case was in good outcome from both oncological and functional point of views after wide resection without surgical reconstraction. 10 Mohler et al reported a patient who got good functional outcomes after marginal resection without surgical reconstruction, but tumor metastasized to the lung. 11 The patient reported by Papagelopoulos et al .…”

Adamantinoma de tibia: manejo quirúrgico con aloinjerto intercalar. A propósito de un caso

“…En el 10% restante, existe una combinación de una o más lesiones en el peroné ipsilateral de manera sincrónica 2,8 . Otros casos han reportado esta patología en el cúbito, y además en localizaciones más raras como en el húmero, fémur, costillas, vértebras y huesos cortos de los pies 2 .…”

“…La relación que existe entre la osteofibrodisplasia y el adamantinoma se basa en que ambas entidades presentan copias extras de los cromosomas 7, 8, 12, 19 y 21, con excepción del cromosoma 19 para la osteofibrodisplasia 2,8 .…”

Lymph node metastasis of osteosarcomas

“…(2011), обычны метастазы в лимфатических узлах для дедиффе-ренцированной хондросаркомы [20]. Частыми и типичны-ми являются метастазы в лимфатических узлах при адаман-тиноме [21,22]. Отмечены метастазы при светлоклеточной хондросаркоме [23], склерозирующей эпителиоидной фи-бросаркоме кости [24], лейомиосаркоме кости [25], карци-носаркоме кости [26], ангиосаркоме кости [27].…”