Search Results - "Amary, Fernanda M"

Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone by Behjati, Sam, Tarpey, Patrick S, Presneau, Nadège, Scheipl, Susanne, Pillay, Nischalan, Van Loo, Peter, Wedge, David C, Cooke, Susanna L, Gundem, Gunes, Davies, Helen, Nik-Zainal, Serena, Martin, Sancha, McLaren, Stuart, Goody, Victoria, Robinson, Ben, Butler, Adam, Teague, Jon W, Halai, Dina, Khatri, Bhavisha, Myklebost, Ola, Baumhoer, Daniel, Jundt, Gernot, Hamoudi, Rifat, Tirabosco, Roberto, Amary, M Fernanda, Futreal, P Andrew, Stratton, Michael R, Campbell, Peter J, Flanagan, Adrienne M

“…Adrienne Flanagan and colleagues identify distinct driver mutations in H3F3A and H3F3B in chondroblastoma and giant cell tumor of bone. The mutations occur in…”
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Meta-analysis of IDH-mutant cancers identifies EBF1 as an interaction partner for TET2 by Guilhamon, Paul, Eskandarpour, Malihe, Halai, Dina, Wilson, Gareth A., Feber, Andrew, Teschendorff, Andrew E., Gomez, Valenti, Hergovich, Alexander, Tirabosco, Roberto, Fernanda Amary, M., Baumhoer, Daniel, Jundt, Gernot, Ross, Mark T., Flanagan, Adrienne M., Beck, Stephan

“…Isocitrate dehydrogenase ( IDH ) genes 1 and 2 are frequently mutated in acute myeloid leukaemia (AML), low-grade glioma, cholangiocarcinoma (CC) and…”
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Undifferentiated Sarcomas Develop through Distinct Evolutionary Pathways by Steele, Christopher D., Tarabichi, Maxime, Oukrif, Dahmane, Webster, Amy P., Ye, Hongtao, Fittall, Matthew, Lombard, Patrick, Martincorena, Iñigo, Tarpey, Patrick S., Collord, Grace, Haase, Kerstin, Strauss, Sandra J., Berisha, Fitim, Vaikkinen, Heli, Dhami, Pawan, Jansen, Marnix, Behjati, Sam, Amary, M. Fernanda, Tirabosco, Roberto, Feber, Andrew, Campbell, Peter J., Alexandrov, Ludmil B., Van Loo, Peter, Flanagan, Adrienne M., Pillay, Nischalan

“…Undifferentiated sarcomas (USARCs) of adults are diverse, rare, and aggressive soft tissue cancers. Recent sequencing efforts have confirmed that USARCs…”
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The H3F3 K36M mutant antibody is a sensitive and specific marker for the diagnosis of chondroblastoma by Amary, M Fernanda, Berisha, Fitim, Mozela, Rafael, Gibbons, Rebecca, Guttridge, Alice, O'Donnell, Paul, Baumhoer, Daniel, Tirabosco, Roberto, Flanagan, Adrienne M

“…Aims We recently reported that 95% of chondroblastomas harbour a p.K36M mutation in either H3F3A (chromosome 1) or H3F3B (chromosome 17), with the majority…”
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Detection of USP6 gene rearrangement in nodular fasciitis: an important diagnostic tool by Amary, M. Fernanda, Ye, Hongtao, Berisha, Fitim, Tirabosco, Roberto, Presneau, Nadege, Flanagan, Adrienne M.

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Next-generation sequencing is highly sensitive for the detection of beta-catenin mutations in desmoid-type fibromatoses by Aitken, Sarah J., Presneau, Nadège, Kalimuthu, Sangeetha, Dileo, Palma, Berisha, Fitim, Tirabosco, Roberto, Amary, M. Fernanda, Flanagan, Adrienne M.

“…Desmoid-type fibromatoses are locally aggressive and frequently recurrent tumours, and an accurate diagnosis is essential for patient management. The majority…”
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Fibroblastic growth factor receptor 1 amplification in osteosarcoma is associated with poor response to neo‐adjuvant chemotherapy by Fernanda Amary, M., Ye, Hongtao, Berisha, Fitim, Khatri, Bhavisha, Forbes, Georgina, Lehovsky, Katie, Frezza, Anna M., Behjati, Sam, Tarpey, Patrick, Pillay, Nischalan, Campbell, Peter J., Tirabosco, Roberto, Presneau, Nadège, Strauss, Sandra J., Flanagan, Adrienne M.

“…Osteosarcoma, the most common primary bone sarcoma, is a genetically complex disease with no widely accepted biomarker to allow stratification of patients for…”
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Pseudomyogenic (epithelioid sarcoma-like) hemangioendothelioma: characterization of five cases by Amary, M. Fernanda, O’Donnell, Paul, Berisha, Fitim, Tirabosco, Roberto, Briggs, Tim, Pollock, Rob, Flanagan, Adrienne M.

“…Objective To describe the imaging and histopathology of pseudomyogenic hemangioendothelioma. Materials and methods Five cases of pseudomyogenic…”
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IDH1 and IDH2 mutations are frequent events in central chondrosarcoma and central and periosteal chondromas but not in other mesenchymal tumours by Amary, M Fernanda, Bacsi, Krisztian, Maggiani, Francesca, Damato, Stephen, Halai, Dina, Berisha, Fitim, Pollock, Robin, O'Donnell, Paul, Grigoriadis, Anita, Diss, Tim, Eskandarpour, Malihe, Presneau, Nadège, Hogendoorn, Pancras CW, Futreal, Andrew, Tirabosco, Roberto, Flanagan, Adrienne M

“…Somatic mutations in isocitrate dehydrogenase 1 (IDH1) and IDH2 occur in gliomas and acute myeloid leukaemia (AML). Since patients with multiple enchondromas…”
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Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma by Behjati, Sam, Tarpey, Patrick S., Haase, Kerstin, Ye, Hongtao, Young, Matthew D., Alexandrov, Ludmil B., Farndon, Sarah J., Collord, Grace, Wedge, David C., Martincorena, Inigo, Cooke, Susanna L., Davies, Helen, Mifsud, William, Lidgren, Mathias, Martin, Sancha, Latimer, Calli, Maddison, Mark, Butler, Adam P., Teague, Jon W., Pillay, Nischalan, Shlien, Adam, McDermott, Ultan, Futreal, P. Andrew, Baumhoer, Daniel, Zaikova, Olga, Bjerkehagen, Bodil, Myklebost, Ola, Amary, M. Fernanda, Tirabosco, Roberto, Van Loo, Peter, Stratton, Michael R., Flanagan, Adrienne M., Campbell, Peter J.

“…Osteosarcoma is a primary malignancy of bone that affects children and adults. Here, we present the largest sequencing study of osteosarcoma to date,…”
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Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2 by Amary, M Fernanda, Damato, Stephen, Halai, Dina, Eskandarpour, Malihe, Berisha, Fitim, Bonar, Fiona, McCarthy, Stan, Fantin, Valeria R, Straley, Kimberly S, Lobo, Samira, Aston, Will, Green, Claire L, Gale, Rosemary E, Tirabosco, Roberto, Futreal, Andrew, Campbell, Peter, Presneau, Nadège, Flanagan, Adrienne M

“…Adrienne Flanagan and colleagues report the identification of somatic mosaic mutations in the IDH1 and IDH2 genes in tumors from individuals with Ollier…”
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The driver landscape of sporadic chordoma by Tarpey, Patrick S., Behjati, Sam, Young, Matthew D., Martincorena, Inigo, Alexandrov, Ludmil B., Farndon, Sarah J., Guzzo, Charlotte, Hardy, Claire, Latimer, Calli, Butler, Adam P., Teague, Jon W., Shlien, Adam, Futreal, P. Andrew, Shah, Sohrab, Bashashati, Ali, Jamshidi, Farzad, Nielsen, Torsten O., Huntsman, David, Baumhoer, Daniel, Brandner, Sebastian, Wunder, Jay, Dickson, Brendan, Cogswell, Patricia, Sommer, Josh, Phillips, Joanna J., Amary, M. Fernanda, Tirabosco, Roberto, Pillay, Nischalan, Yip, Stephen, Stratton, Michael R., Flanagan, Adrienne M., Campbell, Peter J.

“…Chordoma is a malignant, often incurable bone tumour showing notochordal differentiation. Here, we defined the somatic driver landscape of 104 cases of…”
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A common single-nucleotide variant in T is strongly associated with chordoma by Pillay, Nischalan, Plagnol, Vincent, Tarpey, Patrick S, Lobo, Samira B, Presneau, Nadège, Szuhai, Karoly, Halai, Dina, Berisha, Fitim, Cannon, Stephen R, Mead, Simon, Kasperaviciute, Dalia, Palmen, Jutta, Talmud, Philippa J, Kindblom, Lars-Gunnar, Amary, M Fernanda, Tirabosco, Roberto, Flanagan, Adrienne M

“…Adrienne Flanagan and colleagues identify a common variant in the T gene associated with strong risk of chordoma, a rare malignant bone tumor. The risk variant…”
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GNAS mutations are not detected in parosteal and low-grade central osteosarcomas by Salinas-Souza, Carolina, De Andrea, Carlos, Bihl, Michel, Kovac, Michal, Pillay, Nischalan, Forshew, Tim, Gutteridge, Alice, Ye, Hongtao, Amary, M Fernanda, Tirabosco, Roberto, Toledo, Silvia Regina Caminada, Baumhoer, Daniel, Flanagan, Adrienne M

“…Parosteal osteosarcoma, low-grade central osteosarcoma, and fibrous dysplasia share similar histological features that may pose a diagnostic challenge. The…”
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Role of the transcription factor T (brachyury) in the pathogenesis of sporadic chordoma: a genetic and functional-based study by Presneau, Nadège, Shalaby, Asem, Ye, Hongtao, Pillay, Nischalan, Halai, Dina, Idowu, Bernadine, Tirabosco, Roberto, Whitwell, Duncan, Jacques, Thomas S, Kindblom, Lars-Gunnar, Brüderlein, Silke, Möller, Peter, Leithner, Andreas, Liegl, Bernadette, Amary, Fernanda M, Athanasou, Nicholas N, Hogendoorn, Pancras CW, Mertens, Fredrik, Szuhai, Karoly, Flanagan, Adrienne M

“…A variety of analyses, including fluorescence in situ hybridization (FISH), quantitative PCR (qPCR) and array CGH (aCGH), have been performed on a series of…”
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Diagnostic value of H3F3A mutations in giant cell tumour of bone compared to osteoclast‐rich mimics by Presneau, Nadège, Baumhoer, Daniel, Behjati, Sam, Pillay, Nischalan, Tarpey, Patrick, Campbell, Peter J, Jundt, Gernot, Hamoudi, Rifat, Wedge, David C, Loo, Peter Van, Hassan, A Bassim, Khatri, Bhavisha, Ye, Hongtao, Tirabosco, Roberto, Amary, M Fernanda, Flanagan, Adrienne M

“…Driver mutations in the two histone 3.3 (H3.3) genes, H3F3A and H3F3B, were recently identified by whole genome sequencing in 95% of chondroblastoma (CB) and…”
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Isocitrate dehydrogenase 1 mutations (IDH1) and p16/CDKN2A copy number change in conventional chondrosarcomas by Amary, M. Fernanda, Ye, Hongtao, Forbes, Georgina, Damato, Stephen, Maggiani, Francesca, Pollock, Robin, Tirabosco, Roberto, Flanagan, Adrienne M.

“…To determine whether IDH1 mutations are present in primary and relapsed (local and distal) conventional central chondrosarcomas; and secondly, to assess if…”
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IDH1 mutations are not found in cartilaginous tumours other than central and periosteal chondrosarcomas and enchondromas by Damato, Stephen, Alorjani, Mohammed, Bonar, Fiona, McCarthy, Stanley W, Cannon, Stephen R, O'Donnell, Paul, Tirabosco, Roberto, Amary, M Fernanda, Flanagan, Adrienne M

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Assessment of MUC4 expression in primary bone tumours by Tirabosco, Roberto, Berisha, Fitim, Ye, Hongtao, Halai, Dina, Amary, M Fernanda, Flanagan, Adrienne M

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P63 does not regulate brachyury expression in human chordomas and osteosarcomas by Pillay, Nischalan, Amary, Fernanda M, Berisha, Fitim, Tirabosco, Roberto, Flanagan, Adrienne M

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