المؤلفون: Antonino Belfiore, Adele Busico, Fabio Bozzi, Silvia Brich, Elena Dallera, Elena Conca, Iolanda Capone, Annunziata Gloghini, Chiara C. Volpi, Antonello D. Cabras, Silvana Pilotti, Dario Baratti, Marcello Guaglio, Marcello Deraco, Shigeki Kusamura, Federica Perrone

المصدر: International Journal of Molecular Sciences, Vol 20, Iss 22, p 5817 (2019)

مصطلحات موضوعية: diffuse malignant peritoneal mesothelioma, mtor/pik3, met, axl, egfr family, Biology (General), QH301-705.5, Chemistry, QD1-999

الوصف: Background—There are currently no effective therapies for diffuse malignant peritoneal mesothelioma (DMPM) patients with disease recurrence. In this study, we investigated the biology of DMPM by analyzing the EGFR family, Axl, and MET, in order to assess the presence of cross-talk between these receptors, suggesting the effectiveness of combined targeted treatments in DMPM. Method—We analyzed a series of 22 naïve epithelioid DMPM samples from a single institute, two of which showed higher-grade malignancy (“progressed”). EGFR, HER2, HER3, Axl, and MET activation and expression were investigated by biochemical analysis, real-time PCR immunofluorescence, immunohistochemistry, next-generation sequencing, miRNA, and mRNA in situ hybridization. Results—In most DMPMs, a strong EGFR activation was associated with HER2, HER3, Axl, and MET co-activation, mediated mainly by receptor heterodimerization and autocrine-paracrine loops induced by the expression of their cognate ligands. Axl expression was downregulated by miRNA34a. Mutations in MET Sema domain were exclusively found in two “progressed” DMPMs, and the combined Axl and MET inhibition reduced cellular motility in a DMPM cell line obtained from a “progressed” DMPM. Conclusion—The results indicate that the coordinated activity of multiple cross-talks between RTKs is directly involved in the biology of DMPM, suggesting the combined inhibition of PIK3 and mTOR as an effective strategy that may be easily implemented in clinical practice, and indicating that the combined inhibition of EGFR/HER2 and HER3 and of Axl and MET deserves further investigation.

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1422-0067/20/22/5817Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/94604b5ad51c48e78ee5cc105b1a4b2eTest

المؤلفون: Yuan, Y, Ju, YS, Kim, Y, Li, J, Wang, Y, Yoon, CJ, Yang, Y, Martincorena, I, Creighton, CJ, Weinstein, JN, Xu, Y, Han, L, Kim, HL, Nakagawa, H, Park, K, Campbell, PJ, Liang, H, Aaltonen, LA, Abascal, F, Abeshouse, A, Aburatani, H, Adams, DJ, Agrawal, N, Ahn, KS, Ahn, SM, Aikata, H, Akbani, R, Akdemir, KC, Al-Ahmadie, H, Al-Sedairy, ST, Al-Shahrour, F, Alawi, M, Albert, M, Aldape, K, Alexandrov, LB, Ally, A, Alsop, K, Alvarez, EG, Amary, F, Amin, SB, Aminou, B, Ammerpohl, O, Anderson, MJ, Ang, Y, Antonello, D, Anur, P, Aparicio, S, Appelbaum, EL, Arai, Y, Aretz, A, Arihiro, K, Ariizumi, SI, Armenia, J, Arnould, L, Asa, S, Assenov, Y, Atwal, G, Aukema, S, Auman, JT, Aure, MRR, Awadalla, P, Aymerich, M, Bader, GD, Baez-Ortega, A, Bailey, MH, Bailey, PJ, Balasundaram, M, Balu, S, Bandopadhayay, P, Banks, RE, Barbi, S, Barbour, AP, Barenboim, J, Barnholtz-Sloan, J, Barr, H, Barrera, E, Bartlett, J, Bartolome, J, Bassi, C, Bathe, OF, Baumhoer, D, Bavi, P, Baylin, SB, Bazant, W, Beardsmore, D, Beck, TA, Behjati, S, Behren, A, Niu, B, Bell, C, Beltran, S, Benz, C, Berchuck, A, Bergmann, AK, Bergstrom, EN, Berman, BP, Berney, DM, Bernhart, SH, Beroukhim, R, Berrios, M

المصدر: Nature Genetics , 55 , Article 1078. (2023)

مصطلحات موضوعية: PCAWG Consortium

الوصف: Correction to: Nature Genetics, published online 05 February 2020. In the published version of this paper, the members of the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium were listed in the Supplementary Information; however, these members should have been included in the main paper. The original Article has been corrected to include the members and affiliations of the PCAWG Consortium in the main paper; the corrections have been made to the HTML version of the Article but not the PDF version. Additional corrections to affiliations have been made to the PDF and HTML versions of the original Article for consistency of information between the PCAWG list and the main paper.

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10176424/1/Author%20Correction%20Comprehensive%20molecular%20characterization%20of%20mitochondrial%20genomes%20in%20human%20cancers.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10176424Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10176424/1/Author%20Correction%20Comprehensive%20molecular%20characterization%20of%20mitochondrial%20genomes%20in%20human%20cancers.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10176424Test/

المؤلفون: Zapatka, M, Borozan, I, Brewer, DS, Iskar, M, Grundhoff, A, Alawi, M, Desai, N, Sültmann, H, Moch, H, Cooper, CS, Eils, R, Ferretti, V, Kleinheinz, K, Lichter, P, Nakagawa, H, Ojesina, AI, Pedamallu, CS, Schlesner, M, Su, X, Aaltonen, LA, Abascal, F, Abeshouse, A, Aburatani, H, Adams, DJ, Agrawal, N, Ahn, KS, Ahn, SM, Aikata, H, Akbani, R, Akdemir, KC, Al-Ahmadie, H, Al-Sedairy, ST, Al-Shahrour, F, Albert, M, Aldape, K, Alexandrov, LB, Ally, A, Alsop, K, Alvarez, EG, Amary, F, Amin, SB, Aminou, B, Ammerpohl, O, Anderson, MJ, Ang, Y, Antonello, D, Anur, P, Aparicio, S, Appelbaum, EL, Arai, Y, Aretz, A, Arihiro, K, Ariizumi, SI, Armenia, J, Arnould, L, Asa, S, Assenov, Y, Atwal, G, Aukema, S, Auman, JT, Aure, MRR, Awadalla, P, Aymerich, M, Bader, GD, Baez-Ortega, A, Bailey, MH, Bailey, PJ, Balasundaram, M, Balu, S, Bandopadhayay, P, Banks, RE, Barbi, S, Barbour, AP, Barenboim, J, Barnholtz-Sloan, J, Barr, H, Barrera, E, Bartlett, J, Bartolome, J, Bassi, C, Bathe, OF, Baumhoer, D, Bavi, P, Baylin, SB, Bazant, W, Beardsmore, D, Beck, TA, Behjati, S

المصدر: Nature Genetics , 55 (6) , Article 1077. (2023)

مصطلحات موضوعية: PCAWG Pathogens, PCAWG Consortium

الوصف: Correction to: Nature Genetics https://doi.org/10.1038/s41588-019-0558-9Test, published online 05 February 2020.

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10176422/1/Author%20Correction%20The%20landscape%20of%20viral%20associations%20in%20human%20cancers.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10176422Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10176422/1/Author%20Correction%20The%20landscape%20of%20viral%20associations%20in%20human%20cancers.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10176422Test/

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Bustamante, CD, Siebert, R, Nakagawa, H, Easton, DF, Ossowski, S, Tubio, JMC, De La Vega, FM, Estivill, X, Yuen, D, Mihaiescu, GL, Omberg, L, Ferretti, V, Sabarinathan, R, Pich, O, Gonzalez-Perez, A, Weiner, AT, Fittall, MW, Demeulemeester, J, Tarabichi, M, Roberts, ND, Van Loo, P, Cortes-Ciriano, I, Urban, L, Park, P, in Zhu, Pitkaenen, E, Li, Y, Saini, N, Klimczak, LJ, Weischenfeldt, J, Sidiropoulos, N, Alexandrov, LB, Rabionet, R, Escaramis, G, Bosio, M, Holik, AZ, Susak, H, Prasad, A, Erkek, S, Calabrese, C, Raeder, B, Harrington, E, Mayes, S, Turner, D, Juul, S, Roberts, SA, Song, L, Koster, R, Mirabello, L, Hua, X, Tanskanen, TJ, Tojo, M, Chen, J, Aaltonen, LA, Ratsch, G, Schwarz, RF, Butte, AJ, Brazma, A, Chanock, SJ, Chatterjee, N, Stegle, O, Harismendy, O, Bova, GS, Gordenin, DA, Haan, D, Sieverling, L, Feuerbach, L, Chalmers, D, Joly, Y, Knoppers, B, Molnar-Gabor, F, Phillips, M, Thorogood, A, Townend, D, Goldman, M, Fonseca, NA, Xiang, Q, Craft, B, Pineiro-Yanez, E, Munoz, A, Petryszak, R, Fullgrabe, A, Al-Shahrour, F, Keays, M, Haussler, D, Weinstein, J, Huber, W, Valencia, A, Papatheodorou, I, Zhu, J, Fan, Y, Torrents, D, Bieg, M, Chen, K, Chong, Z, Cibulskis, K, Eils, R, Fulton, RS, Gelpi, JL, Gonzalez, S, Gut, IG, Hach, F, Heinold, M, Hu, T, Huang, V, Hutter, B, Jaeger, N, Jung, J, Kumar, Y, Lalansingh, C, Leshchiner, I, Livitz, D, Ma, EZ, Maruvka, YE, Milovanovic, A, Nielsen, MM, Paramasivam, N, Pedersen, JS, Puiggros, M, Sahinalp, SC, Sarrafi, I, Stewart, C, Stobbe, MD, Wala, JA, Wang, J, Wendl, M, Werner, J, Wu, Z, Xue, H, Yamaguchi, TN, Yellapantula, V, Davis-Dusenbery, BN, Grossman, RL, Kim, Y, Heinold, MC, Hinton, J, Jones, DR, Menzies, A, Stebbings, L, Hess, JM, Rosenberg, M, Dunford, AJ, Gupta, M, Imielinski, M, Meyerson, M, Beroukhim, R, Reimand, J, Dhingra, P, Favero, F, Dentro, S, Wintersinger, J, Rudneva, V, Park, JW, Hong, EP, Heo, SG, Kahles, A, jong-Van Lehmann, Soulette, CM, Shiraishi, Y, Liu, F, He, Y, Demircioglu, D, Davidson, NR, Greger, L, Li, S, Liu, D, Stark, SG, Zhang, F, Amin, SB, Bailey, P, Chateigner, A, Frenkel-Morgenstern, M, Hou, Y, Huska, MR, Kilpinen, H, Lamaze, FC, Li, C, Li, X, Liu, X, Marin, MG, Markowski, J, Nandi, T, Ojesina, A, Pan-Hammarstrom, Q, Park, PJ, Pedamallu, CS, Su, H, Tan, P, Teh, B, Xiong, H, Ye, C, Yung, C, Zhang, XQ, Zheng, LT, Zhu, S, Awadalla, P, Creighton, CJ, Wu, K, Yang, HM, Goke, J, Zhang, Z, Brooks, AN, Martincorena, I, Rubio-Perez, C, Juul, M, Schumacher, S, Shapira, O, Tamborero, D, Mularoni, L, Hornshoj, H, Deu-Pons, J, Muinos, F, Bertl, J, Guo, Q, Bazant, W, Barrera, E, Al-Sedairy, ST, Aretz, A, Bell, C, Betancourt, M, Buchholz, C, Calvo, F, Chomienne, C, Dunn, M, Edmonds, S, Green, E, Gupta, S, Hutter, CM, Jegalian, K, Jones, N, Lu, YY, Nakagama, H, Nettekoven, G, Planko, L, Scott, D, Shibata, T, Shimizu, K, Stratton, MR, Yugawa, T, Tortora, G, VijayRaghavan, K, Zenklusen, JC, Knoppers, BM, Aminou, B, Bartolome, J, Boroevich, KA, Boyce, R, Buchanan, A, Byrne, NJ, Chen, Z, Cho, S, Choi, W, Clapham, P, Dow, MT, Eils, J, Farcas, C, Fayzullaev, N, Flicek, P, Heath, AP, Hofmann, O, Hong, JH, Hudson, TJ, Huebschmann, D, Ivkovic, S, Jeon, SH, Jiao, W, Kabbe, R, Kerssemakers, JNA, Kim, H, Kim, J, Koscher, M, Koures, A, Kovacevic, M, Lawerenz, C, Liu, J, Mijalkovic, S, Mijalkovic-Lazic, AM, Miyano, S, Nastic, M, Nicholson, J, Ocana, D, Ohi, K, Ohno-Machado, L, Pihl, TD, Prinz, M, Radovic, P, Short, C, Sofia, HJ, Spring, J, Struck, AJ, Tijanic, N, Vicente, D, Wang, Z, Williams, A, Woo, Y, Wright, AJ, Yang, L, Hamilton, MP, Johnson, TA, Kahraman, A, Kellis, M, Polak, P, Sallari, R, Sinnott-Armstrong, N, von Mering, C, Beltran, S, Gerhard, DS, Gut, M, Trotta, JR, Whalley, JP, Niu, B, Espiritu, SMG, Gao, S, Huang, Y, Lalansingh, CM, Teague, JW, Wendl, MC, Abascal, F, Bader, GD, Bandopadhayay, P, Barenboim, J, Brunak, S, Fita, JC, Chakravarty, D, Chan, CWY, Choi, JK, Diamanti, K, Fink, JL, Frigola, J, Gambacorti-Passerini, C, Garsed, DW, Haradhvala, NJ, 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Lakhani, SR, Langerod, A, Larsimont, D, Lee, HJ, Lee, JY, Lee, MTM, Lingjaerde, OC, MacGrogan, G, Martens, JWM, O'Meara, S, Pauporte, I, Pinder, S, Pivot, X, Provenzano, E, Purdie, CA, Ramakrishna, M, Ramakrishnan, K, Reis, J, Richardson, AL, Ringner, M, Rodriguez, JB, Rodriguez-Gonzalez, FG, Romieu, G, Salgado, R, Sauer, T, Shepherd, R, Sieuwerts, AM, Simpson, PT, Smid, M, Sotiriou, C, Span, PN, Stefansson, OA, Stenhouse, A, Stunnenberg, HG, Sweep, F, Tan, BKT, Thomas, G, Thompson, AM, Tommasi, S, Treilleux, I, Tutt, A, Ueno, NT, Van Laere, S, Van den Eynden, GG, Vermeulen, P, Viari, A, Vincent-Salomon, A, Wong, BH, Yates, L, Zou, X, van Deurzen, CHM, van de Vijver, MJ, van't Veer, L, Ammerpohl, O, Aukema, S, Bergmann, AK, Bernhart, SH, Borkhardt, A, Borst, C, Burkhardt, B, Claviez, A, Goebler, ME, Haake, A, Haas, S, Hansmann, M, Hoell, J, Hummel, M, Karsch, D, Klapper, W, Kneba, M, Kreuz, M, Kube, D, Kueppers, R, Lenze, D, Loeffler, M, Lopez, C, Mantovani-Loeffler, L, Moeller, P, Ott, G, Radlwimmer, B, Richter, J, Rohde, M, Rosenstiel, PC, Rosenwald, A, Schilhabel, MB, Schreiber, S, Stadler, PF, Staib, P, Stilgenbauer, S, Sungalee, S, Szczepanowski, M, Toprak, UH, Truemper, LHP, Wagener, R, Zenz, T, Hovestadt, V, von Kalle, C, Kool, M, Korshunov, A, Landgraf, P, Lehrach, H, Northcott, PA, Pfister, SM, Reifenberger, G, Warnatz, HJ, Wolf, S, Yaspo, ML, Assenov, Y, Gerhauser, C, Minner, S, Schlomm, T, Simon, R, Sauter, G, Sueltmann, H, Biswas, NK, Maitra, A, Majumder, PP, Sarin, R, Barbi, S, Bonizzato, G, Cantu, C, Dei Tos, AP, Fassan, M, Grimaldi, S, Luchini, C, Malleo, G, Marchegiani, G, Milella, M, Paiella, S, Pea, A, Pederzoli, P, Ruzzenente, A, Salvia, R, Sperandio, N, Arai, Y, Hama, N, Hiraoka, N, Hosoda, F, Nakamura, H, Ojima, H, Okusaka, T, Totoki, Y, Urushidate, T, Fukayama, M, Ishikawa, S, Katai, H, Katoh, H, Komura, D, Rokutan, H, Saito-Adachi, M, Suzuki, A, Taniguchi, H, Tatsuno, K, Ushiku, T, Yachida, S, Yamamoto, S, Aikata, H, Arihiro, K, Ariizumi, S, Chayama, K, Furuta, M, Gotoh, K, Hayami, S, Hirano, S, Kawakami, Y, Maejima, K, Nakamura, T, Nakano, K, Ohdan, H, Sasaki-Oku, A, Tanaka, H, Ueno, M, Yamamoto, M, Yamaue, H, Choo, SP, Cutcutache, I, Khuntikeo, N, Ong, CK, Pairojkul, C, Popescu, I, Ahn, KS, Aymerich, M, Lopez-Guillermo, A, Lopez-Otin, C, Puente, XS, Campo, E, Amary, F, Baumhoer, D, Behjati, S, Bjerkehagen, B, Myklebost, O, Pillay, N, Tarpey, P, Tirabosco, R, Zaikova, O, Flanagan, AM, Boultwood, J, Bowen, DT, Cazzola, M, Green, AR, Hellstrom-Lindberg, E, Malcovati, L, Nangalia, J, Papaemmanuil, E, Vyas, P, Ang, Y, Barr, H, Beardsmore, D, Eldridge, M, Gossage, J, Grehan, N, Hanna, GB, Hayes, SJ, Hupp, TR, Khoo, D, Lagergren, J, Lovat, LB, MacRae, S, O'Donovan, M, O'Neill, JR, Parsons, SL, Preston, SR, Puig, S, Roques, T, Sanders, G, Sothi, S, Tavare, S, Tucker, O, Turkington, R, Underwood, TJ, Welch, I, Fitzgerald, RC, Berney, DM, De Bono, JS, Cahill, D, Camacho, N, Dennis, NM, Dudderidge, T, Edwards, SE, Fisher, C, Foster, CS, Ghori, M, Gill, P, Gnanapragasam, VJ, Gundem, G, Hamdy, FC, Hawkins, S, Hazell, S, Howat, W, Isaacs, WB, Karaszi, K, Kay, JD, Khoo, V, Kote-Jarai, Z, Kremeyer, B, Kumar, P, Lambert, A, Leongamornlert, DA, Livni, N, Lu, YJ, Luxton, HJ, Marsden, L, Massie, CE, Matthews, L, Mayer, E, McDermott, U, Merson, S, Neal, DE, Ng, A, Nicol, D, Ogden, C, Rowe, EW, Shah, NC, Thomas, S, Thompson, A, Verrill, C, Visakorpi, T, Warren, AY, Whitaker, HC, Zhang, H, van As, N, Eeles, RA, Abeshouse, A, Agrawal, N, Akbani, R, Al Ahmadie, H, Albert, M, Aldape, K, Ally, A, Appelbaum, EL, Armenia, J, Asa, S, Auman, JT, Balasundaram, M, Balu, S, Barnholtz-Sloan, J, Bathe, OF, Baylin, SB, Benz, C, Berchuck, A, Berrios, M, Bigner, D, Birrer, M, Bodenheimer, T, Boice, L, Bootwalla, MS, Bosenberg, M, Bowlby, R, Boyd, J, Broaddus, RR, Brock, M, Brooks, D, Bullman, S, Caesar-Johnson, SJ, Carey, TE, Carlsen, R, Cerfolio, R, Chandan, VS, Chen, HW, Cherniack, AD, Chien, J, Cho, J, Chuah, E, Cibulskis, C, Cope, L, Cordes, MG, Curley, E, Czerniak, B, Danilova, L, Davis, IJ, Defreitas, T, Demchok, JA, Dhalla, N, Dhir, R, Doddapaneni, H, El-Naggar, A, Felau, I, Ferguson, ML, Finocchiaro, G, Fong, KM, Frazer, S, Friedman, W, Fronick, CC, Fulton, LA, Gabriel, SB, Gao, J, Gehlenborg, N, Gershenwald, JE, Ghossein, R, Giama, NH, Gibbs, RA, Gomez, C, Govindan, R, Hayes, DN, Hegde, AM, Heiman, D, Heins, Z, Hepperla, AJ, Holbrook, A, Holt, RA, Hoyle, AP, Hruban, RH, Hu, J, Huang, M, Huntsman, D, Huse, J, Donahue, CAI, Ittmann, M, Jayaseelan, JC, Jefferys, SR, Jones, CD, Jones, SJM, Juhl, H, Kang, KJ, Karlan, B, Kasaian, K, Kebebew, E, Kim, HK, Korchina, V, Kundra, R, Lai, PH, Lander, E, Le, X, Levine, DA, Lewis, L, Ley, T, Li, HI, Lin, P, Linehan, WM, Liu, FF, Lu, Y, Lype, L, Ma, Y, Maglinte, DT, Mardis, ER, Marks, J, Marra, MA, Matthew, TJ, Mayo, M, McCune, K, Meier, SR, Meng, S, Mieczkowski, PA, Mikkelsen, T, Miller, CA, Mills, GB, Moore, RA, Morrison, C, Mose, LE, Moser, CD, Mungall, AJ, Mungall, K, Mutch, D, Muzny, DM, Myers, J, Newton, Y, Noble, MS, O'Donnell, P, O'Neill, BP, Ochoa, A, Parker, JS, Pass, H, Pastore, A, Pennell, NA, Perou, CM, Petrelli, N, Potapova, O, Rader, JS, Ramalingam, S, Rathmell, WK, Reuter, V, Reynolds, SM, Ringel, M, Roach, J, Roberts, LR, Robertson, AG, Sadeghi, S, Saller, C, Sanchez-Vega, F, Schadendorf, D, Schein, JE, Schmidt, HK, Schultz, N, Seethala, R, Senbabaoglu, Y, Shelton, T, Shi, Y, Shih, J, Shmulevich, I, Shriver, C, Signoretti, S, Simons, J, Singer, S, Sipahimalani, P, Skelly, TJ, McCune, KS, Socci, ND, Soloway, MG, Sood, AK, Tam, A, Tan, D, Tarnuzzer, R, Thiessen, N, Thompson, RH, Thorne, LB, Tsao, M, Umbricht, C, Van Den Berg, DJ, Van Meir, EG, Veluvolu, U, Voet, D, Wang, L, Weinberger, P, Weisenberger, DJ, Wigle, D, Wilkerson, MD, Wilson, RK, Winterhoff, B, Wiznerowicz, M, Wong, T, Wong, W, Xi, L, Yau, C

المصدر: Nature. 578(7793):82

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:143672104Test

المؤلفون: Dello Spedale Venti M., Giannetta E., Bosco D., Biffoni M., Carletti R., Chiappetta C., Barberis M., Simbolo M., Antonello D., Isidori A. M., Scarpa A., di Gioia C. R. T.

المساهمون: Dello Spedale Venti, M., Giannetta, E., Bosco, D., Biffoni, M., Carletti, R., Chiappetta, C., Barberis, M., Simbolo, M., Antonello, D., Isidori, A. M., Scarpa, A., di Gioia, C. R. T.

مصطلحات موضوعية: bronchial carcinoid, metastasis, neuroendocrine tumor, thyroid metastasi, human, lung, adenoma, carcinoid tumor, carcinoma, neuroendocrine, lung neoplasm, thyroid neoplasms

الوصف: Metastasis to the thyroid gland is a rare event. To date, only 11 cases of metastasis from neuroendocrine tumors (NETs) originating in the lung have been reported. We present a case of a patient in his 40s harboring two nodules in the thyroid gland that were diagnosed as well-differentiated NET (G1). Eighteen years before the patient underwent a lung lobectomy of the right upper lobe for a bronchial typical carcinoid with metastasis in one lymph node. Normal blood levels of calcitonin virtually ruled out the diagnosis of medullary thyroid carcinoma (MTC) and supported the diagnosis of a possible thyroid metastasis of the previous bronchial NET. Mutational analysis performed on both primary and metastasis tumor tissue did not show any mutation in the 409 genes analyzed.

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35481568; info:eu-repo/semantics/altIdentifier/wos/WOS:000864690000009; volume:114; issue:2; firstpage:164; lastpage:169; numberofpages:6; journal:PATHOLOGICA; http://hdl.handle.net/11573/1635654Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85128879632

الإتاحة: https://doi.org/10.32074/1591-951X-286Test
http://hdl.handle.net/11573/1635654Test

المؤلفون: Olga Vriz, Irene Landi, Abdalla Eltayeb, Giuseppe Limongelli, Lucio Mos, Pietro Delise, Eduardo Bossone, Antonello D`Andrea

المصدر: Current Cardiology Reviews. 19

مصطلحات موضوعية: General Medicine, Cardiology and Cardiovascular Medicine

الوصف: Abstract: Mitral valve prolapse (MVP) is the most frequent valvulopathy in the general population, with usually a favourable prognosis. Although it can be associated with some complications, ventricular arrhythmias (VA) and sudden cardiac death (SCD) are the most worrying. The estimated risk of SCD in MVP is between 0.2% to 1.9% per year, including MVP patients with and without severe mitral regurgitation (MR). The association between SCD and MVP is expressed by a phenotype called “malignant MVP” characterized by transthoracic echocardiography (TTE) findings such as bileaflet myxomatous prolapse and mitral annulus disjunction (MAD), ECG findings such as repolarization abnormalities, complex ventricular arrhythmias (c-VAs) and LV fibrosis of papillary muscles (PMs) and inferobasal wall visualized by late gadolinium enhancement cardiac magnetic resonance (LGE-CMR). Therefore, attention is raised for patients with “arrhythmic MVP” characterized from an ECG point of view by frequent premature ventricular contractions (PVCs) arising from one or both PMs as well as by T-wave inversion in the inferolateral leads. In athletes, SCD is the most frequent medical cause of death and in young subjects (< 35 years) usually is due to electrical mechanism affecting who has a silent cardiovascular disease and are not considered per se a cause of increased mortality. In MVP, SCD was reported to happen during sports activity or immediately after and valve prolapse was the only pathological aspect detected. The aim of the present paper is to explore the association between SCD and MVP in athletes, focusing attention on ECG, TTE in particular, and CMR findings that could help to identify subjects at high risk for complex arrhythmias and eventually SCD. In addition, it is also examined if sports activity might predispose patients with MVP to develop major arrhythmias.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b47bfb97935a60e4f7fde01b718724bcTest
https://doi.org/10.2174/1573403x19666221220163431Test

المؤلفون: Meloni S. M., MELODIA D., Tallarico M., Lumbau A. M. I., BALDONI E., DUVINA M., SPANO M., ANTONELLO D., ANTONIO T., IRENE L., MILENA P.

المساهمون: Meloni, S. M., Melodia, D., Tallarico, M., Lumbau, A. M. I., Baldoni, E., Duvina, M., Spano, M., Antonello, D., Antonio, T., Irene, L., Milena, P.

مصطلحات موضوعية: 3D-customized titanium grid, Computer-guided bone regeneration, Vertical bone regeneration

الوصف: PURPOSE. The purpose of this report was to provide outcome data from a retrospective case series of vertical bone augmentation using 3D-customized titanium grids one year after fitting of definitive prostheses. MATERIALS AND METHODS. Patients with severe vertical bone defects in the mandible or maxilla regenerated using titanium grids, previously customized via CBCT scan and pre-surgical virtual wax up, filled outside the mouth with 50% autologous bone and 50% deproteinized bovine bone were analysed. Eight to 9 months after regeneration, a second CBCT scan was performed to evaluate the regenerated bone, and implants were planned and placed. Patients were monitored for one year after fitting of the definitive prostheses. Primary outcome measures were implant and prosthesis survival rates and complications. Secondary outcome measures were vertical dimensional changes, and peri-implant marginal bone loss. RESULTS. Seven patients and eight procedures involving the insertion of a total of 22 implants were assessed. One-year after definitive prosthesis fitting, no patient had dropped out. No implant or prosthesis failed during follow-up. Three grid exposures were detected; one grid was removed two months after placement, while the other two were minimally exposed, which did not affect the outcome of the guided bone-regeneration (GBR) procedure, and were therefore not removed until implant placement. No other complication was recorded during the entire follow-up. At implant placement, the mean maximum vertical augmentation was 7.38± 2.60 mm (95% CI: 5.578 to 9.182). One year after definitive prosthesis fitting, the mean marginal peri-implant bone loss at patient level was 0.98± 0.27 mm; 95% (CI: 0.78 to 1.18). CONCLUSIONS. Within the limitations of this case series, the results recorded one year after definitive prosthesis fitting seem to validate the use of customized titanium grids for augmentation of major vertical bone defects.

العلاقة: volume:5; issue:1; firstpage:31; lastpage:40; numberofpages:10; journal:CLINICAL TRIALS IN DENTISTRY; https://hdl.handle.net/11388/307398Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85154025045

الإتاحة: https://doi.org/10.36130/CTD.01.2023.04Test
https://hdl.handle.net/11388/307398Test

المؤلفون: Bailey, Matthew H., Perry, MD, Puiggros, M, Raine, KM, Rheinbay, E, Royo, R, Sahinalp, SC, Saksena, G, Sarrafi, I, Schlesner, M, Simpson, JT, Stebbings, L, Stewart, C, Stobbe, MD, Teague, JW, Tiao, G, Torrents, D, Wala, JA, Wang, J, Wang, W, Waszak, SM, Weischenfeldt, J, Wendl, MC, Werner, J, Wu, Z, Xue, H, Yakneen, S, Yamaguchi, TN, Ye, K, Yellapantula, VD, Yung, CK, Zhang, J, Pedersen, JS, Puiggròs, M, Wendl, M, Ellrot, K, Wheeler, DA, Getz, G, Gerstein, MB, Ding, L, Aaltonen, LA, Abascal, F, Abeshouse, A, Aburatani, H, Adams, DJ, Agrawal, N, Ahn, KS, Ahn, S-M, Aikata, H, Akbani, R, Akdemir, KC, Al-Ahmadie, H, Al-Sedairy, ST, Al-Shahrour, F, Alawi, M, Albert, M, Aldape, K, Alexandrov, LB, Ally, A, Alsop, K, Alvarez, EG, Amary, F, Amin, SB, Aminou, B, Ammerpohl, O, Anderson, MJ, Ang, Y, Antonello, D, Anur, P, Aparicio, S, Meyerson, William U., Bailey, MH, Buchanan, A, Chiotti, K, Covington, K, Creason, A, Ellrott, K, Fan, Y, Foltz, S, Dursi, Lewis Jonathan, Hale, W, Haussler, D, Hess, JM, Hutter, CM, Kandoth, C, Kasaian, K, Kasapi, M, Larson, D, Leshchiner, I, Wang, Liang-Bo, Letaw, J, Ma, S, McLellan, MD, Men, Y, Mills, GB, Niu, B, Peto, M, Radenbaugh, A, Reynolds, SM, Dong, Guanlan, Sofia, H, Struck, AJ, Stuart, JM, Weinstein, JN, Wong, CK, Xi, L, Liang, Wen-Wei, Bieg, M, Boutros, PC, Buchhalter, I, Butler, AP, Chen, K, Chong, Z, Drechsel, O, Weerasinghe, Amila, Jonathan Dursi, L, Eils, R, Espiritu, SMG, Fulton, RS, Gao, S, Gelpi, JLL, Gonzalez, S, Li, Shantao, Gut, IG, Hach, F, Heinold, MC, Hinton, J, Hu, T, Huang, V, Huang, Y, Hutter, B, Jones, DR, Kelso, Sean, Jung, J, Jäger, N, Kim, HL, Kleinheinz, K, Kumar, S, Kumar, Y, Lalansingh, CM, Letunic, I, Livitz, D, Ma, EZ, Maruvka, YE, Mashl, RJ, Menzies, A, Milovanovic, A, Nielsen, MM, Ossowski, S, Paramasivam, N, Scarlett, Christopher J.

المساهمون: The University of Newcastle. Faculty of Health & Medicine, Faculty of Health and Medicine

مصطلحات موضوعية: cancer genomics, communication and replication, comparative genomics, genetic databases, SDG 3, Sustainable Development Goals

الوصف: The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts.

العلاقة: Nature Communications Vol. 11, Issue 1, no. 4748; http://hdl.handle.net/1959.13/1455622Test; uon:45113

الإتاحة: http://hdl.handle.net/1959.13/1455622Test

المؤلفون: Li, CH, Prokopec, SD, Sun, RX, Yousif, F, Schmitz, N, Al-Shahrour, F, Atwal, G, Bailey, PJ, Biankin, AV, Boutros, PC, Campbell, PJ, Chang, DK, Cooke, SL, Deshpande, V, Faltas, BM, Faquin, WC, Garraway, L, Getz, G, Grimmond, SM, Haider, S, Hoadley, KA, Jiao, W, Kaiser, VB, Karlić, R, Kato, M, Kübler, K, Lazar, AJ, Louis, DN, Margolin, A, Martin, S, Nahal-Bose, HK, Nielsen, GP, Nik-Zainal, S, Omberg, L, P’ng, C, Perry, MD, Polak, P, Rheinbay, E, Rubin, MA, Semple, CA, Sgroi, DC, Shibata, T, Siebert, R, Smith, J, Stein, LD, Stobbe, MD, Thai, K, Wright, DW, Wu, CL, Yuan, K, Zhang, J, Aaltonen, LA, Abascal, F, Abeshouse, A, Aburatani, H, Adams, DJ, Agrawal, N, Ahn, KS, Ahn, SM, Aikata, H, Akbani, R, Akdemir, KC, Al-Ahmadie, H, Al-Sedairy, ST, Alawi, M, Albert, M, Aldape, K, Alexandrov, LB, Ally, A, Alsop, K, Alvarez, EG, Amary, F, Amin, SB, Aminou, B, Ammerpohl, O, Anderson, MJ, Ang, Y, Antonello, D, Anur, P, Aparicio, S, Appelbaum, EL, Arai, Y, Aretz, A, Arihiro, K, Ariizumi, SI, Armenia, J, Arnould, L, Asa, S, Assenov, Y, Aukema, S, Auman, JT, Aure, MR, Awadalla, P, Aymerich, M, Bader, GD, Baez-Ortega, A, Pajic, Marina, Merrett, Neil, Pinese, Mark, Lau, Loretta, Gill, Anthony, Toon, Christopher Chien Wei, Chou, Angela, Johns, Amber

المصدر: urn:ISSN:2041-1723 ; Nature Communications, 11, 1, 4330

مصطلحات موضوعية: Genetics, Human Genome, Cancer, Rare Diseases, 3 Good Health and Well Being, Chromosomal Instability, Exome, Female, Genome, Human, Genomic Instability, Humans, Logistic Models, Male, Mutation, Neoplasms, Oncogenes, Open Reading Frames, Sex Characteristics, beta Catenin, PCAWG Tumour Subtypes and Clinical Translation, PCAWG Consortium

الوصف: Sex differences have been observed in multiple facets of cancer epidemiology, treatment and biology, and in most cancers outside the sex organs. Efforts to link these clinical differences to specific molecular features have focused on somatic mutations within the coding regions of the genome. Here we report a pan-cancer analysis of sex differences in whole genomes of 1983 tumours of 28 subtypes as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium. We both confirm the results of exome studies, and also uncover previously undescribed sex differences. These include sex-biases in coding and non-coding cancer drivers, mutation prevalence and strikingly, in mutational signatures related to underlying mutational processes. These results underline the pervasiveness of molecular sex differences and strengthen the call for increased consideration of sex in molecular cancer research.

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/1959.4/unsworks_73185Test; https://unsworks.unsw.edu.au/bitstreams/a49151be-fb93-4c7e-8cf6-4c5da1759e79/downloadTest; https://unsworks.unsw.edu.au/bitstreams/1808fb07-ba94-49d5-b060-5a60b155af24/downloadTest; https://unsworks.unsw.edu.au/bitstreams/b27d7792-ac27-40db-a99a-918d24920de0/downloadTest; https://doi.org/10.1038/s41467-020-17359-2Test

الإتاحة: https://doi.org/10.1038/s41467-020-17359-2Test
http://hdl.handle.net/1959.4/unsworks_73185Test
https://unsworks.unsw.edu.au/bitstreams/a49151be-fb93-4c7e-8cf6-4c5da1759e79/downloadTest
https://unsworks.unsw.edu.au/bitstreams/1808fb07-ba94-49d5-b060-5a60b155af24/downloadTest
https://unsworks.unsw.edu.au/bitstreams/b27d7792-ac27-40db-a99a-918d24920de0/downloadTest

المؤلفون: Young, K, Lawlor, RT, Ragulan, C, Patil, Y, Mafficini, A, Bersani, S, Antonello, D, Mansfield, D, Cingarlini, S, Landoni, L, Pea, A, Luchini, C, Piredda, L, Kannan, N, Nyamundanda, G, Morganstein, D, Chau, I, Wiedenmann, B, Milella, M, Melcher, A, Cunningham, D, Starling, N, Scarpa, A, Sadanandam, A

المساهمون: Ragulan, Chanthirika, Mansfield, David, Melcher, Alan

الوصف: OBJECTIVE: A comprehensive analysis of the immune landscape of pancreatic neuroendocrine tumours (PanNETs) was performed according to clinicopathological parameters and previously defined molecular subtypes to identify potential therapeutic vulnerabilities in this disease. DESIGN: Differential expression analysis of 600 immune-related genes was performed on 207 PanNET samples, comprising a training cohort (n=72) and two validation cohorts (n=135) from multiple transcriptome profiling platforms. Different immune-related and subtype-related phenotypes, cell types and pathways were investigated using different in silico methods and were further validated using spatial multiplex immunofluorescence. RESULTS: The study identified an immune signature of 132 genes segregating PanNETs (n=207) according to four previously defined molecular subtypes: metastasis-like primary (MLP)-1 and MLP-2, insulinoma-like and intermediate. The MLP-1 subtype (26%-31% samples across three cohorts) was strongly associated with elevated levels of immune-related genes, poor prognosis and a cascade of tumour evolutionary events: larger hypoxic and necroptotic tumours leading to increased damage-associated molecular patterns (viral mimicry), stimulator of interferon gene pathway, T cell-inflamed genes, immune checkpoint targets, and T cell-mediated and M1 macrophage-mediated immune escape mechanisms. Multiplex spatial profiling validated significantly increased macrophages in the MLP-1 subtype. CONCLUSION: This study provides novel data on the immune microenvironment of PanNETs and identifies MLP-1 subtype as an immune-high phenotype featuring a broad and robust activation of immune-related genes. This study, with further refinement, paves the way for future precision immunotherapy studies in PanNETs to potentially select a subset of MLP-1 patients who may be more likely to respond.

وصف الملف: Print-Electronic; application/pdf

العلاقة: Gut, 2020; https://repository.icr.ac.uk/handle/internal/4063Test

الإتاحة: https://doi.org/10.1136/gutjnl-2020-321016Test
https://repository.icr.ac.uk/handle/internal/4063Test