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

Fernanda Amary, M., Ye, H., Berisha, F., Khatri, B., Forbes, G., Lehovsky, K., Frezza, A.M., Behjati, S., Tarpey, P., Pillay, N., Campbell, P.J., Tirabosco, R., Presneau, Nadège, Strauss, S.J. and Flanagan, A.M. 2014. Fibroblastic growth factor receptor 1 amplification in osteosarcoma is associated with poor response to neo-adjuvant chemotherapy. Cancer Medicine. 3 (4), pp. 980-987. https://doi.org/10.1002/cam4.268

TitleFibroblastic growth factor receptor 1 amplification in osteosarcoma is associated with poor response to neo-adjuvant chemotherapy
TypeJournal article
AuthorsFernanda Amary, M., Ye, H., Berisha, F., Khatri, B., Forbes, G., Lehovsky, K., Frezza, A.M., Behjati, S., Tarpey, P., Pillay, N., Campbell, P.J., Tirabosco, R., Presneau, Nadège, Strauss, S.J. and Flanagan, A.M.
Abstract

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.

KeywordsAmplification, FGFR, FGFR1, FISH, genetics, osteosarcoma, polysomy
JournalCancer Medicine
Journal citation3 (4), pp. 980-987
ISSN2045-7634
Year2014
PublisherWiley
Publisher's version
File Access Level
Open (open metadata and files)
Digital Object Identifier (DOI)https://doi.org/10.1002/cam4.268
Web address (URL)http://dx.doi.org/10.1002/cam4.268
Publication dates
Published27 May 2014

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Presneau, Nadège, Duhamel, L.A., Ye, H., Tirabosco, R., Flanagan, A.M. and Eskandarpour, M. 2017. Post-translational regulation contributes to the loss of LKB1 expression through SIRT1 deacetylase in osteosarcomas. British Journal of Cancer. 117, pp. 398-408. https://doi.org/10.1038/bjc.2017.174

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus
Zeng, C., Guo, X., Long, J., Kuchenbaecker, K.B., Droit, A., Michailidou, K., Ghoussaini, M., Kar, S., Freeman, A., Hopper, J.L., Milne, R.L., Bolla, M.K., Wang, Q., Dennis, J., Agata, S., Ahmed, S., Aittomaki, K., Andrulis, I.L., Anton-Culver, H., Antonenkova, N.N., Arason, A., Arndt, V., Arun, B.K., Arver, B., Bacot, F., Barrowdale, D., Baynes, C., Beeghly-Fadiel, A., Benitez, J., Bermisheva, M., Blomqvist, C., Blot, W.J., Bogdanova, N.V., Bojesen, S.E., Bonanni, B., Borresen-Dale, A.-L., Brand, J.S., Brauch, H., Brennan, P., Brenner, H., Broeks, A., Brüning, T., Burwinkel, B., Buys, S.S., Cai, Q., Caldes, T., Campbell, I., Carpenter, J., Chang-Claude, J., Choi, J.Y., Claes, K.B.M., Clarke, C., Cox, A., Cross, S.S., Czene, K., Daly, M.B., de la Hoya, M., De Leeneer, K., Devilee, P., Diez, O., Domchek, S.M., Doody, M.M., Dorfling, C.M., Dörk, T., Dos Santos Silva, I., Dumont, M., Dwek, M., Dworniczak, B., Egan, K.M., Eilber, U., Einbeigi, Z., Ejlertsen, B., Ellis, S., Frost, D., Lalloo, F., Fasching, P.A., Figueroa, J.D., Flyger, H., Friedlander, M., Friedman, E., Gambino, G., Gao, Y.T., Garber, J., Garcia-Closas, M., Gehrig, A., Damiola, F., Lesueur, F., Mazoyer, S., Stoppa-Lyonnet, D., Giles, G.G., Godwin, A.K., Goldgar, D.E., González-Neira, A., Greene, M.H., Guenel, P., Haeberle, L., Haiman, C.A., Hallberg, E., Hamann, U., Hansen, T.V.O., Hart, S., Hartikainen, J.M., Hartman, M., Hassan, N., Healey, S., Hogervorst, F.B.L., Verhoef, S., Hendricks, C.B., Hillemanns, P., Hollestelle, A., Hulick, P.J., Hunter, D.J., Imyanitov, E.N., Isaacs, C., Ito, H., Jakubowska, A., Janavicius, R., Jaworska-Bieniek, K., Jensen, U.B., John, E.M., Beauparlant, C.J., Jones, M., Kabisch, M., Kang, D., Karlan, B.Y., Kauppila, S., Kerin, M.J., Khan, S., Khusnutdinova, E., Knight, J.A., Konstantopoulou, I., Kraft, P., Kwong, A., Laitman, Y., Lambrechts, D., Lazaro, C., Le Marchand, L., Lee, C.N., Lee, M.H., Lester, J., Li, J., Liljegren, A., Lindblom, A., Lophatananon, A., Lubinski, J., Mai, P.L., Mannermaa, A., Manoukian, S., Margolin, S., Marme, F., Matsuo, K., McGuffog, L., Meindl, A., Menegaux, F., Montagna, M., Muir, K., Mulligan, A.M., Nathanson, K.L., Neuhausen, S.L., Nevanlinna, H., Newcomb, P.A., Nord, S., Nussbaum, R.L., Offit, K., Olah, E., Olopade, O.I., Olswold, C., Osorio, A., Papi, L., Park-Simon, T.W., Paulsson-Karlsson. Y., Peeters, S., Peissel, B., Peterlongo, P., Peto, J., Pfeiler, G., Phelan, C.M., Presneau, Nadège, Presneau, N., Radice, P., Rahman, N., Ramus, S.J., Rashid, M.U., Rennert, G., Rhiem, K., Rudolph, A., Salani, R., Sangrajrang, S., Sawyer, E.J., Schmidt, M.K., Schmutzler, R.K., Schoemaker, M.J., Schürmann, P., Seynaeve, C., Shen, C.Y., Shrubsole, M.J., Shu, X.O., Sigurdson, A., Singer, C.F., Slager, S., Soucy, P., Southey, M., Steinemann, D., Swerdlow, A., Szabo, C.I., Tchatchou, S., Teixeira, M.R., Teo, S.H., Terry, M.B., Tessier, D.C., Teulé, A., Thomassen, M., Tihomirova, L., Tischkowitz, M., Toland, A.E., Tung, N., Turnbull, C., van den Ouweland, A.M., van Rensburg, E.J., Ven den Berg, D., Vijai, J., Wang-Gohrke, S., Weitzel, J.N., Whittemore, A.S., Winqvist, R., Wong, T.Y., Wu, A.H., Yannoukakos, D., Yu, J.C., Pharoah, P.D., Hall, P., Chenevix-Trench, G., Dunning, A.M., Simard, J., Couch, F.J., Antoniou, A.C., Easton, D.F., Antoniou, A.C. and Zheng, W. 2016. Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus. Breast Cancer Research. 18 (1), p. 64. https://doi.org/10.1186/s13058-016-0718-0

Next-generation sequencing is highly sensitive for the detection of beta-catenin mutations in desmoid-type fibromatoses
Aitken, S.J., Presneau, Nadège, Dileo, P., Berisha, F., Tirabosco, R., Amary, M.F., Flanagan, A.M. and Kalimuthu Sangeetha 2015. Next-generation sequencing is highly sensitive for the detection of beta-catenin mutations in desmoid-type fibromatoses. Virchows Archiv. 467 (2), pp. 203-210. https://doi.org/10.1007/s00428-015-1765-0

Diagnostic value of H3F3A mutations in giant cell tumour of bone compared to osteoclast-rich mimics
Presneau, Nadège, Baumhoer Daniel, Behjati Sam, Pillay Nischalan, Tarpey Patrick Campbell Peter, J., Jundt Gernot, Hamoudi Rifat Wedge David, C., Van Loo Peter Hassan A Bassim, Khatri, B., Ye Hongtao, Tirabosco, R., Flanagan, A.M., Campbell Peter J., Wedge David C., Hassan A. Bassim and Amary, M.F. 2015. Diagnostic value of H3F3A mutations in giant cell tumour of bone compared to osteoclast-rich mimics. The Journal of Pathology: Clinical Research. 1 (2), pp. 113-123. https://doi.org/10.1002/cjp2.13

Mutations in IDH1 and IDH2 are not present in sporadic ovarian sex cord-stromal tumours
Aitken, S.J., Presneau, Nadège, Khatri, B., Flanagan, A.M., Clarke, B. and McCluggage, W.G. 2015. Mutations in IDH1 and IDH2 are not present in sporadic ovarian sex cord-stromal tumours. Histopathology. 66 (6), pp. 897-898. https://doi.org/10.1111/his.12489

An NRAS mutation in a case of Erdheim-Chester disease
Aitken, S.J., Presneau, Nadège, Amary, M.F., O'Donnell, P., Flanagan, A.M. and Tirabosco, R. 2015. An NRAS mutation in a case of Erdheim-Chester disease. Histopathology . 66 (2), pp. 316-319. https://doi.org/10.1111/his.12443

Assessment of patient-derived tumour xenografts (PDXs) as a discovery tool for cancer epigenomics
Guilhamon, P., Butcher, L.M., Presneau, Nadège, Wilson, G.A., Feber, A., Paul, D.S., Schütte, M., Haybaeck, J., Keilholz, U., Hoffman, J., Ross, M.T., Flanagan, A.M. and Beck, S. 2014. Assessment of patient-derived tumour xenografts (PDXs) as a discovery tool for cancer epigenomics. Genome Medicine. 6 (12), pp. 116-126. https://doi.org/10.1186/s13073-014-0116-0

Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone
Behjati Sam, Tarpey Patrick Campbell Peter, J., Presneau, Nadège, Pillay Nischalan, Van Loo Peter Hassan A Bassim, Wedge David C., Cooke, S.L., Gundem, G., Davies, H., Nik-Zainal, S., Martin, S., McLaren, S., Goody, V., Robinson, B., Butler, A., Teague, J.W., Halai, D., Khatri, B., Myklebost, O., Baumhoer Daniel, Jundt Gernot, Hamoudi Rifat Wedge David, C., Tirabosco, R., Amary, M.F., Futreal, P.A., Stratton, M.R., Campbell Peter J., Flanagan, A.M., Scheipl Susanne and Goodie Victoria 2013. Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone. Nature Genetics. 45 (12), pp. 1479-1482. https://doi.org/10.1038/ng.2814

A molecular map of mesenchymal tumors
Henderson, S.R., Guiliano, D.B., Presneau, N., McLean, S., Frow, R., Vujovic, S., Anderson, J., Sebire, N., Whelan, J., Athanasou, N., Flanagan, A.M. and Boshoff, C. 2005. A molecular map of mesenchymal tumors. Genome Biology. 6 R76. https://doi.org/10.1186/gb-2005-6-9-r76

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