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Cancer Med. 2014 Aug;3(4):980-7. doi: 10.1002/cam4.268. Epub 2014 May 27.

Fibroblastic growth factor receptor 1 amplification in osteosarcoma is associated with poor response to neo-adjuvant chemotherapy.

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Histopathology, London Sarcoma Service, Royal National Orthopaedic Hospital NHS Trust, Stanmore, Middlesex, HA7 4LP, U.K; UCL Cancer Institute, Huntley Street, London, WC1E 6BT, U.K.


Osteosarcoma, the most common primary bone sarcoma, is a genetically complex disease with no widely accepted biomarker to allow stratification of patients for treatment. After a recent report of one osteosarcoma cell line and one tumor exhibiting fibroblastic growth factor receptor 1 (FGFR1) gene amplification, the aim of this work was to assess the frequency of FGFR1 amplification in a larger cohort of osteosarcoma and to determine if this biomarker could be used for stratification of patients for treatment. About 352 osteosarcoma samples from 288 patients were analyzed for FGFR1 amplification by interphase fluorescence in situ hybridization. FGFR1 amplification was detected in 18.5% of patients whose tumors revealed a poor response to chemotherapy, and no patients whose tumors responded well to therapy harbored this genetic alteration. FGFR1 amplification is present disproportionately in the rarer histological variants of osteosarcoma. This study provides a rationale for inclusion of patients with osteosarcoma in clinical trials using FGFR kinase inhibitors.


Amplification; FGFR; FGFR1; FISH; genetics; osteosarcoma; polysomy

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