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Low-grade central fibroblastic osteosarcoma may be differentiated from its mimicker desmoplastic fibroma by genetic analysis

Song, W., van den Berg, E., Kwee, T. C., Jutte, P. C., Cleton-Jansen, A-M., Bovée, J. V. M. G. & Suurmeijer, A. J., 23-Aug-2018, In : Clinical sarcoma research. 8, 16, 8 p., 16.

Research output: Contribution to journalArticleAcademicpeer-review

Background: We studied two cases of rare fibrous bone tumors, namely desmoplastic fibroma (DF) and low-grade central osteosarcoma (LGCOS) resembling desmoplastic fibroma (DF-like LGCOS). As the clinical presentation, imaging features and histopathology of DF and DF-like LGOS show much overlap, the objective of this study was to investigate the value of cytogenetic analysis, molecular pathology and immunohistochemistry in discrimination of these two mimickers.

Case presentation: A mutation in CTNNB (S45F) and nuclear beta-catenin immunostaining were observed in DF. DF-LGCOS had amplification of CDK4 and showed strong nuclear expression of CDK4 by IHC. Moreover, the karyotype of DF-LGCOS showed an interstitial heterozygous deletion of the long arm of chromosome 13 (q12q32), associated with loss of the RB1 tumor suppressor gene.

Conclusions: Karyotyping and molecular genetic analysis may contribute to a conclusive diagnosis.

Original languageEnglish
Article number16
Number of pages8
JournalClinical sarcoma research
Volume8
Issue number16
Publication statusPublished - 23-Aug-2018

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