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386 results on '"Da Cruz Paula, Arnaud"'

2. Genomic and epigenomic basis of breast invasive lobular carcinomas lacking CDH1 genetic alterations

Author

Dopeso, Higinio, Gazzo, Andrea M., Derakhshan, Fatemeh, Brown, David N., Selenica, Pier, Jalali, Sahar, Da Cruz Paula, Arnaud, Marra, Antonio, da Silva, Edaise M., Basili, Thais, Gusain, Laxmi, Colon-Cartagena, Lorraine, Bhaloo, Shirin Issa, Green, Hunter, Vanderbilt, Chad, Oesterreich, Steffi, Grabenstetter, Anne, Kuba, M. Gabriela, Ross, Dara, Giri, Dilip, Wen, Hannah Y., Zhang, Hong, Brogi, Edi, Weigelt, Britta, Pareja, Fresia, and Reis-Filho, Jorge S.

Published
2024
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3. Nivolumab for mismatch-repair-deficient or hypermutated gynecologic cancers: a phase 2 trial with biomarker analyses

Author

Friedman, Claire F., Manning-Geist, Beryl L., Zhou, Qin, Soumerai, Tara, Holland, Aliya, Da Cruz Paula, Arnaud, Green, Hunter, Ozsoy, Melih Arda, Iasonos, Alexia, Hollmann, Travis, Leitao, Jr., Mario M., Mueller, Jennifer J., Makker, Vicky, Tew, William P., O’Cearbhaill, Roisin E., Liu, Ying L., Rubinstein, Maria M., Troso-Sandoval, Tiffany, Lichtman, Stuart M., Schram, Alison, Kyi, Chrisann, Grisham, Rachel N., Causa Andrieu, Pamela, Wherry, E. John, Aghajanian, Carol, Weigelt, Britta, Hensley, Martee L., and Zamarin, Dmitriy

Published
2024
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5. Long-molecule scars of backup DNA repair in BRCA1- and BRCA2-deficient cancers

Author

Setton, Jeremy, Hadi, Kevin, Choo, Zi-Ning, Kuchin, Katherine S., Tian, Huasong, Da Cruz Paula, Arnaud, Rosiene, Joel, Selenica, Pier, Behr, Julie, Yao, Xiaotong, Deshpande, Aditya, Sigouros, Michael, Manohar, Jyothi, Nauseef, Jones T., Mosquera, Juan-Miguel, Elemento, Olivier, Weigelt, Britta, Riaz, Nadeem, Reis-Filho, Jorge S., Powell, Simon N., and Imieliński, Marcin

Published
2023
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7. Clinicopathologic and genomic features of lobular like invasive mammary carcinoma: is it a distinct entity?

Author

Yu, Jing, da Silva, Edaise M., La, Hae-Sun, Clark, Beth Z., Fine, Jeffrey L., Carter, Gloria J., Villatoro, Tatiana M., Soong, T. Rinda, Lee, Adrian V., Oesterreich, Steffi, Basili, Thais, Blanco-Heredia, Juan, Selenica, Pier, Ye, Qiqi, Da Cruz Paula, Arnaud, Dopeso, Higinio, Gazzo, Andrea, Marra, Antonio, Pareja, Fresia, Reis-Filho, Jorge S., and Bhargava, Rohit

Published
2023
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8. Nonlobular Invasive Breast Carcinomas with Biallelic Pathogenic CDH1 Somatic Alterations: A Histologic, Immunophenotypic, and Genomic Characterization

Author

Derakhshan, Fatemeh, Da Cruz Paula, Arnaud, Selenica, Pier, da Silva, Edaise M., Grabenstetter, Anne, Jalali, Sahar, Gazzo, Andrea M., Dopeso, Higinio, Marra, Antonio, Brown, David N., Ross, Dara S., Mandelker, Diana, Razavi, Pedram, Chandarlapaty, Sarat, Wen, Hannah Y., Brogi, Edi, Zhang, Hong, Weigelt, Britta, Pareja, Fresia, and Reis-Filho, Jorge S.

Published
2024
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9. Precision Radiotherapy: Reduction in Radiation for Oropharyngeal Cancer in the 30 ROC Trial

Author

Riaz, Nadeem, Sherman, Eric, Pei, Xin, Schöder, Heiko, Grkovski, Milan, Paudyal, Ramesh, Katabi, Nora, Selenica, Pier, Yamaguchi, Takafumi N, Ma, Daniel, Lee, Simon K, Shah, Rachna, Kumar, Rahul, Kuo, Fengshen, Ratnakumar, Abhirami, Aleynick, Nathan, Brown, David, Zhang, Zhigang, Hatzoglou, Vaios, Liu, Lydia Y, Salcedo, Adriana, Tsai, Chiaojung J, McBride, Sean, Morris, Luc GT, Boyle, Jay, Singh, Bhuvanesh, Higginson, Daniel S, Damerla, Rama R, da Cruz Paula, Arnaud, Price, Katharine, Moore, Eric J, Garcia, Joaquin J, Foote, Robert, Ho, Alan, Wong, Richard J, Chan, Timothy A, Powell, Simon N, Boutros, Paul C, Humm, John L, Shukla-Dave, Amita, Pfister, David, Reis-Filho, Jorge S, and Lee, Nancy

Subjects
Cancer, Rare Diseases, Dental/Oral and Craniofacial Disease, Biomedical Imaging, Clinical Research, Genetics, Digestive Diseases, 4.2 Evaluation of markers and technologies, Detection, screening and diagnosis, Chemoradiotherapy, Humans, Oropharyngeal Neoplasms, Positron-Emission Tomography, Prospective Studies, Radiotherapy Dosage, Tumor Hypoxia, Oncology and Carcinogenesis, Oncology & Carcinogenesis
Abstract

BackgroundPatients with human papillomavirus-related oropharyngeal cancers have excellent outcomes but experience clinically significant toxicities when treated with standard chemoradiotherapy (70 Gy). We hypothesized that functional imaging could identify patients who could be safely deescalated to 30 Gy of radiotherapy.MethodsIn 19 patients, pre- and intratreatment dynamic fluorine-18-labeled fluoromisonidazole positron emission tomography (PET) was used to assess tumor hypoxia. Patients without hypoxia at baseline or intratreatment received 30 Gy; patients with persistent hypoxia received 70 Gy. Neck dissection was performed at 4 months in deescalated patients to assess pathologic response. Magnetic resonance imaging (weekly), circulating plasma cell-free DNA, RNA-sequencing, and whole-genome sequencing (WGS) were performed to identify potential molecular determinants of response. Samples from an independent prospective study were obtained to reproduce molecular findings. All statistical tests were 2-sided.ResultsFifteen of 19 patients had no hypoxia on baseline PET or resolution on intratreatment PET and were deescalated to 30 Gy. Of these 15 patients, 11 had a pathologic complete response. Two-year locoregional control and overall survival were 94.4% (95% confidence interval = 84.4% to 100%) and 94.7% (95% confidence interval = 85.2% to 100%), respectively. No acute grade 3 radiation-related toxicities were observed. Microenvironmental features on serial imaging correlated better with pathologic response than tumor burden metrics or circulating plasma cell-free DNA. A WGS-based DNA repair defect was associated with response (P = .02) and was reproduced in an independent cohort (P = .03).ConclusionsDeescalation of radiotherapy to 30 Gy on the basis of intratreatment hypoxia imaging was feasible, safe, and associated with minimal toxicity. A DNA repair defect identified by WGS was predictive of response. Intratherapy personalization of chemoradiotherapy may facilitate marked deescalation of radiotherapy.

Published
2021

10. HER2 Genetic Intratumor Heterogeneity Is Associated With Resistance to Trastuzumab and Trastuzumab Emtansine Therapy in Recurrent High-Grade Endometrial Cancer

Author

Shen, Sherry, Ma, Weining, Brown, David, Da Cruz Paula, Arnaud, Zhou, Qin, Iaosonos, Alexia, Tessier-Cloutier, Basile, Ross, Dara S., Troso-Sandoval, Tiffany, Reis-Filho, Jorge S., Abu-Rustum, Nadeem, Zhang, Yanming, Ellenson, Lora H., Weigelt, Britta, Makker, Vicky, and Chui, M. Herman

Published
2023
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11. Ovarian cancer mutational processes drive site-specific immune evasion

Author

Vázquez-García, Ignacio, Uhlitz, Florian, Ceglia, Nicholas, Lim, Jamie L. P., Wu, Michelle, Mohibullah, Neeman, Niyazov, Juliana, Ruiz, Arvin Eric B., Boehm, Kevin M., Bojilova, Viktoria, Fong, Christopher J., Funnell, Tyler, Grewal, Diljot, Havasov, Eliyahu, Leung, Samantha, Pasha, Arfath, Patel, Druv M., Pourmaleki, Maryam, Rusk, Nicole, Shi, Hongyu, Vanguri, Rami, Williams, Marc J., Zhang, Allen W., Broach, Vance, Chi, Dennis S., Da Cruz Paula, Arnaud, Gardner, Ginger J., Kim, Sarah H., Lennon, Matthew, Long Roche, Kara, Sonoda, Yukio, Zivanovic, Oliver, Kundra, Ritika, Viale, Agnes, Derakhshan, Fatemeh N., Geneslaw, Luke, Issa Bhaloo, Shirin, Maroldi, Ana, Nunez, Rahelly, Pareja, Fresia, Stylianou, Anthe, Vahdatinia, Mahsa, Bykov, Yonina, Grisham, Rachel N., Liu, Ying L., Lakhman, Yulia, Nikolovski, Ines, Kelly, Daniel, Gao, Jianjiong, Schietinger, Andrea, Hollmann, Travis J., Bakhoum, Samuel F., Soslow, Robert A., Ellenson, Lora H., Abu-Rustum, Nadeem R., Aghajanian, Carol, Friedman, Claire F., McPherson, Andrew, Weigelt, Britta, Zamarin, Dmitriy, and Shah, Sohrab P.

Published
2022
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12. Single-cell genomic variation induced by mutational processes in cancer

Author

Funnell, Tyler, O’Flanagan, Ciara H., Williams, Marc J., McPherson, Andrew, McKinney, Steven, Kabeer, Farhia, Lee, Hakwoo, Salehi, Sohrab, Vázquez-García, Ignacio, Shi, Hongyu, Leventhal, Emily, Masud, Tehmina, Eirew, Peter, Yap, Damian, Zhang, Allen W., Lim, Jamie L. P., Wang, Beixi, Brimhall, Jazmine, Biele, Justina, Ting, Jerome, Au, Vinci, Van Vliet, Michael, Liu, Yi Fei, Beatty, Sean, Lai, Daniel, Pham, Jenifer, Grewal, Diljot, Abrams, Douglas, Havasov, Eliyahu, Leung, Samantha, Bojilova, Viktoria, Moore, Richard A., Rusk, Nicole, Uhlitz, Florian, Ceglia, Nicholas, Weiner, Adam C., Zaikova, Elena, Douglas, J. Maxwell, Zamarin, Dmitriy, Weigelt, Britta, Kim, Sarah H., Da Cruz Paula, Arnaud, Reis-Filho, Jorge S., Martin, Spencer D., Li, Yangguang, Xu, Hong, de Algara, Teresa Ruiz, Lee, So Ra, Llanos, Viviana Cerda, Huntsman, David G., McAlpine, Jessica N., Shah, Sohrab P., and Aparicio, Samuel

Published
2022
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13. Immunohistochemical analysis of IDH2 R172 hotspot mutations in breast papillary neoplasms: applications in the diagnosis of tall cell carcinoma with reverse polarity

Author

Pareja, Fresia, da Silva, Edaise M, Frosina, Denise, Geyer, Felipe C, Lozada, John R, Basili, Thais, Da Cruz Paula, Arnaud, Zhong, Elaine, Derakhshan, Fatemeh, D’Alfonso, Timothy, Wen, Hannah Y, Giri, Dilip D, Hayes, Malcolm M, Krings, Gregor, Bhargava, Rohit, Palazzo, Juan P, Rakha, Emad A, Hoda, Syed A, Sanders, Melinda E, Collins, Laura C, Schnitt, Stuart J, Chen, Yunn-Yi, Weigelt, Britta, Jungbluth, Achim A, Reis-Filho, Jorge S, and Brogi, Edi

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Cancer, Rare Diseases, Biotechnology, Aged, Aged, 80 and over, Biomarkers, Tumor, Breast Neoplasms, Carcinoma, Papillary, Cell Polarity, Female, Humans, Immunohistochemistry, Isocitrate Dehydrogenase, Middle Aged, Mutation, Medical and Health Sciences, Pathology, Clinical sciences
Abstract

Tall cell carcinoma with reverse polarity is a rare subtype of breast carcinoma with solid and papillary growth and nuclear features reminiscent of those of the tall cell variant of papillary thyroid carcinoma. These tumors harbor recurrent IDH2 R172 hotspot mutations or TET2 mutations, co-occurring with mutations in PI3K pathway genes. Diagnosis of tall cell carcinomas with reverse polarity is challenging in view of their rarity and the range of differential diagnosis. We sought to determine the sensitivity and specificity of IDH2 R172 immunohistochemistry for the detection of IDH2 R172 hotspot mutations in this entity. We evaluated 14 tall cell carcinomas with reverse polarity (ten excision and five core needle biopsy specimens), 13 intraductal papillomas, 16 solid papillary carcinomas, and 5 encapsulated papillary carcinomas by Sanger sequencing of the IDH2 R172 hotspot locus and of exons 9 and 20 of PIK3CA, and by immunohistochemistry using monoclonal antibodies (11C8B1) to the IDH2 R172S mutation. The 14 tall cell carcinomas with reverse polarity studied harbored IDH2 R172 hotspot mutations, which co-occurred with PIK3CA hotspot mutations in 50% of cases. None of the other papillary neoplasms analyzed displayed IDH2 R172 mutations, however PIK3CA hotspot mutations were detected in 54% of intraductal papillomas, 6% of solid papillary carcinomas, and 20% of encapsulated papillary carcinomas tested. Immunohistochemical analysis with anti-IDH2 R172S antibodies (11C8B1) detected IDH2 R172 mutated protein in 93% (14/15) of tall cell carcinomas with reverse polarity samples including excision (n = 9/10) and core needle biopsy specimens (n = 5), whereas the remaining papillary neoplasms (n = 34) were negative. Our findings demonstrate that immunohistochemical analysis of IDH2 R172 is highly sensitive and specific for the detection of IDH2 R172 hotspot mutations, and likely suitable as a diagnostic tool in the evaluation of excision and core needle biopsy material of tall cell carcinomas with reverse polarity.

Published
2020

15. Molecular profiling of primary endometroid endometrial cancer and matched lung metastases: CTNNB1 mutation as a potential driver

Author

Gordhandas, Sushmita, primary, Da Cruz Paula, Arnaud, additional, Kertowidjojo, Elizabeth C., additional, Pareja, Fresia, additional, Dessources, Kimberly, additional, da Silva, Edaise M., additional, Derakhshan, Fatemeh, additional, Mueller, Jennifer J., additional, Abu-Rustum, Nadeem R., additional, Herman Chui, M., additional, and Weigelt, Britta, additional

Published
2024
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17. Immunogenicity and therapeutic targeting of a public neoantigen derived from mutated PIK3CA

Author

Chandran, Smita S., Ma, Jiaqi, Klatt, Martin G., Dündar, Friederike, Bandlamudi, Chaitanya, Razavi, Pedram, Wen, Hannah Y., Weigelt, Britta, Zumbo, Paul, Fu, Si Ning, Banks, Lauren B., Yi, Fei, Vercher, Enric, Etxeberria, Inaki, Bestman, Watchain D., Da Cruz Paula, Arnaud, Aricescu, Ilinca S., Drilon, Alexander, Betel, Doron, Scheinberg, David A., Baker, Brian M., and Klebanoff, Christopher A.

Published
2022
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20. TSC2-mutant uterine sarcomas with JAZF1-SUZ12 fusions demonstrate hybrid features of endometrial stromal sarcoma and PEComa and are responsive to mTOR inhibition

Author

Chiang, Sarah, Vasudevaraja, Varshini, Serrano, Jonathan, Stewart, Colin J.R., Oliva, Esther, Momeni-Boroujeni, Amir, Jungbluth, Achim A., Da Cruz Paula, Arnaud, da Silva, Edaise M., Weigelt, Britta, Park, Kay J., Soslow, Robert A., Murali, Rajmohan, Ellenson, Lora H., Benayed, Ryma, Ladanyi, Marc, Abu-Rustum, Nadeem R., Dickson, Mark A., Cohen, Seth, Aghajanian, Carol, Hensley, Martee L., Lee, Cheng-Han, Snuderl, Matija, and Konner, Jason A.

Published
2022
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21. Diverse alterations associated with resistance to KRAS(G12C) inhibition

Author

Zhao, Yulei, Murciano-Goroff, Yonina R., Xue, Jenny Y., Ang, Agnes, Lucas, Jessica, Mai, Trang T., Da Cruz Paula, Arnaud F., Saiki, Anne Y., Mohn, Deanna, Achanta, Pragathi, Sisk, Ann E., Arora, Kanika S., Roy, Rohan S., Kim, Dongsung, Li, Chuanchuan, Lim, Lee P., and Li, Mark

Subjects
Oncology, Experimental, Drug resistance -- Research, Chemical inhibitors -- Dosage and administration, Lung cancer -- Drug therapy, Cancer -- Research, Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Inactive state-selective KRAS(G12C) inhibitors.sup.1-8 demonstrate a 30-40% response rate and result in approximately 6-month median progression-free survival in patients with lung cancer.sup.9. The genetic basis for resistance to these first-in-class mutant GTPase inhibitors remains under investigation. Here we evaluated matched pre-treatment and post-treatment specimens from 43 patients treated with the KRAS(G12C) inhibitor sotorasib. Multiple treatment-emergent alterations were observed across 27 patients, including alterations in KRAS, NRAS, BRAF, EGFR, FGFR2, MYC and other genes. In preclinical patient-derived xenograft and cell line models, resistance to KRAS(G12C) inhibition was associated with low allele frequency hotspot mutations in KRAS(G12V or G13D), NRAS(Q61K or G13R), MRAS(Q71R) and/or BRAF(G596R), mirroring observations in patients. Single-cell sequencing in an isogenic lineage identified secondary RAS and/or BRAF mutations in the same cells as KRAS(G12C), where they bypassed inhibition without affecting target inactivation. Genetic or pharmacological targeting of ERK signalling intermediates enhanced the antiproliferative effect of G12C inhibitor treatment in models with acquired RAS or BRAF mutations. Our study thus suggests a heterogenous pattern of resistance with multiple subclonal events emerging during G12C inhibitor treatment. A subset of patients in our cohort acquired oncogenic KRAS, NRAS or BRAF mutations, and resistance in this setting may be delayed by co-targeting of ERK signalling intermediates. These findings merit broader evaluation in prospective clinical trials. Multiple treatment-emergent alterations appear in patients with advanced-stage cancer who were treated with a KRAS inhibitor., Author(s): Yulei Zhao [sup.1] , Yonina R. Murciano-Goroff [sup.2] , Jenny Y. Xue [sup.1] [sup.3] , Agnes Ang [sup.4] , Jessica Lucas [sup.1] , Trang T. Mai [sup.1] , Arnaud [...]

Published
2021
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22. Mesonephric and mesonephric-like carcinomas of the female genital tract: molecular characterization including cases with mixed histology and matched metastases

Author

da Silva, Edaise M., Fix, Daniel J., Sebastiao, Ana Paula Martins, Selenica, Pier, Ferrando, Lorenzo, Kim, Sarah H., Stylianou, Anthe, Da Cruz Paula, Arnaud, Pareja, Fresia, Smith, Evan S., Zehir, Ahmet, Konner, Jason A., Cadoo, Karen, Reis-Filho, Jorge S., Abu-Rustum, Nadeem R., Mueller, Jennifer J., Weigelt, Britta, and Park, Kay J.

Published
2021
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23. Clonal relationship and directionality of progression of synchronous endometrial and ovarian carcinomas in patients with DNA mismatch repair-deficiency associated syndromes

Author

Moukarzel, Lea A., Da Cruz Paula, Arnaud, Ferrando, Lorenzo, Hoang, Timothy, Sebastiao, Ana Paula Martins, Pareja, Fresia, Park, Kay J., Jungbluth, Achim A., Capella, Gabriel, Pineda, Marta, Levin, Jeffrey D., Abu-Rustum, Nadeem R., Ellenson, Lora H., Bel, August Vidal, Reis-Filho, Jorge S., Matias-Guiu, Xavier, Cadoo, Karen, Stadler, Zsofia K., and Weigelt, Britta

Published
2021
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24. Genetic and molecular subtype heterogeneity in newly diagnosed early- and advanced-stage endometrial cancer

Author

Da Cruz Paula, Arnaud, DeLair, Deborah F., Ferrando, Lorenzo, Fix, Daniel J., Soslow, Robert A., Park, Kay J., Chiang, Sarah, Reis-Filho, Jorge S., Zehir, Ahmet, Donoghue, Mark T.A., Wu, Michelle, Brown, David N., Murali, Rajmohan, Friedman, Claire F., Zamarin, Dmitriy, Makker, Vicky, Mueller, Jennifer J., Leitao, Mario M., Jr, Abu-Rustum, Nadeem R., Aghajanian, Carol, and Weigelt, Britta

Published
2021
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25. High-grade transformation of low-grade endometrial stromal sarcomas lacking YWHAE and BCOR genetic abnormalities

Author

Zou, Youran, Turashvili, Gulisa, Soslow, Robert A., Park, Kay J., Croce, Sabrina, McCluggage, W. Glenn, Stewart, Colin J.R., Oda, Yoshinao, Oliva, Esther, Young, Robert H., Da Cruz Paula, Arnaud, Dessources, Kimberly, Ashley, Charles W., Hensley, Martee L., Yip, Stephen, Weigelt, Britta, Benayed, Ryma, Antonescu, Cristina R., Lee, Cheng-Han, and Chiang, Sarah

Published
2020
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27. Sclerosing epithelioid mesenchymal neoplasm of the pancreas – a proposed new entity

Author

Basturk, Olca, Weigelt, Britta, Adsay, Volkan, Benhamida, Jamal K., Askan, Gokce, Wang, Lu, Arcila, Maria E., Zamboni, Giuseppe, Fukushima, Noriyoshi, Gularte-Mérida, Rodrigo, Da Cruz Paula, Arnaud, Selenica, Pier, Kumar, Rahul, Pareja, Fresia, Maher, Christopher A., Scholes, John, Oda, Yoshinao, Santini, Donatella, Doyle, Leona A., Petersen, Iver, Flucke, Uta, Koelsche, Christian, Reynolds, Samuel J., Yavas, Aslihan, Deimling, Andreas von, Reis-Filho, Jorge S., and Klimstra, David S.

Published
2020
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29. Clinical outcomes of patients with POLE mutated endometrioid endometrial cancer

Author

Stasenko, Marina, Tunnage, Irina, Ashley, Charles W., Rubinstein, Maria M., Latham, Alicia J., Da Cruz Paula, Arnaud, Mueller, Jennifer J., Leitao, Mario M., Jr., Friedman, Claire F., Makker, Vicky, Soslow, Robert A., DeLair, Deborah F., Hyman, David M., Zamarin, Dimitriy, Alektiar, Kaled M., Aghajanian, Carol A., Abu-Rustum, Nadeem R., Weigelt, Britta, and Cadoo, Karen A.

Published
2020
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30. Uterine washings as a novel method for early detection of ovarian cancer: Trials and tribulations

Author

Sia, Tiffany Y., primary, Yaari, Zvi, additional, Feiner, Ron, additional, Smith, Evan, additional, Da Cruz Paula, Arnaud, additional, Selenica, Pier, additional, Doddi, Sital, additional, Chi, Dennis S., additional, Abu-Rustum, Nadeem R., additional, Levine, Douglas A., additional, Weigelt, Britta, additional, Fleisher, Martin, additional, Ramanathan, Lakshmi V., additional, Heller, Daniel A., additional, and Long Roche, Kara, additional

Published
2024
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33. PAX8–GLIS3 gene fusion is a pathognomonic genetic alteration of hyalinizing trabecular tumors of the thyroid

Author

Marchiò, Caterina, Da Cruz Paula, Arnaud, Gularte-Merida, Rodrigo, Basili, Thais, Brandes, Alissa, da Silva, Edaise M., Silveira, Catarina, Ferrando, Lorenzo, Metovic, Jasna, Maletta, Francesca, Annaratone, Laura, Pareja, Fresia, Rubin, Brian P., Hoschar, Aaron P., De Rosa, Giovanni, La Rosa, Stefano, Bongiovanni, Massimo, Purgina, Bibianna, Piana, Simonetta, Volante, Marco, Weigelt, Britta, Reis-Filho, Jorge S., and Papotti, Mauro

Published
2019
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34. Same-Cell Co-Occurrence of RAS Hotspot and BRAF V600E Mutations in Treatment-Naive Colorectal Cancer

Author

Gularte-Mérida, Rodrigo, Smith, Shaleigh, Bowman, Anita S., da Cruz Paula, Arnaud, Chatila, Walid, Bielski, Craig M., Vyas, Monika, Borsu, Laetitia, Zehir, Ahmet, Martelotto, Luciano G., Shia, Jinru, Yaeger, Rona, Fang, Fang, Gardner, Rui, Luo, Ruibang, Schatz, Michael C., Shen, Ronglai, Weigelt, Britta, Sánchez-Vega, Francisco, Reis-Filho, Jorge S., and Hechtman, Jaclyn F.

Published
2022
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35. ARID1A determines luminal identity and therapeutic response in estrogen-receptor-positive breast cancer

Author

Xu, Guotai, Chhangawala, Sagar, Cocco, Emiliano, Razavi, Pedram, Cai, Yanyan, Otto, Jordan E, Ferrando, Lorenzo, Selenica, Pier, Ladewig, Erik, Chan, Carmen, Da Cruz Paula, Arnaud, Witkin, Matthew, Cheng, Yuanming, Park, Jane, Serna-Tamayo, Cristian, Zhao, HuiYong, Wu, Fan, Sallaku, Mirna, Qu, Xuan, Zhao, Alison, Collings, Clayton K, D’Avino, Andrew R., Jhaveri, Komal, Koche, Richard, Levine, Ross L., Reis-Filho, Jorge S., Kadoch, Cigall, Scaltriti, Maurizio, Leslie, Christina S., Baselga, José, and Toska, Eneda

Published
2020
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38. Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands

Author

Weinreb, Ilan, Piscuoglio, Salvatore, Martelotto, Luciano G, Waggott, Daryl, Ng, Charlotte KY, Perez-Ordonez, Bayardo, Harding, Nicholas J, Alfaro, Javier, Chu, Kenneth C, Viale, Agnes, Fusco, Nicola, da Cruz Paula, Arnaud, Marchio, Caterina, Sakr, Rita A, Lim, Raymond, Thompson, Lester DR, Chiosea, Simion I, Seethala, Raja R, Skalova, Alena, Stelow, Edward B, Fonseca, Isabel, Assaad, Adel, How, Christine, Wang, Jianxin, de Borja, Richard, Chan-Seng-Yue, Michelle, Howlett, Christopher J, Nichols, Anthony C, Wen, Y Hannah, Katabi, Nora, Buchner, Nicholas, Mullen, Laura, Kislinger, Thomas, Wouters, Bradly G, Liu, Fei-Fei, Norton, Larry, McPherson, John D, Rubin, Brian P, Clarke, Blaise A, Weigelt, Britta, Boutros, Paul C, and Reis-Filho, Jorge S

Subjects
Agricultural, Veterinary and Food Sciences, Biological Sciences, Bioinformatics and Computational Biology, Genetics, Agricultural Biotechnology, Cancer, Digestive Diseases, Adenocarcinoma, Amino Acid Sequence, Animals, Humans, Immunohistochemistry, Immunoprecipitation, Mice, Microscopy, Confocal, Models, Molecular, Molecular Sequence Data, Mutagenesis, Mutation, Missense, NIH 3T3 Cells, Protein Kinase C, Salivary Gland Neoplasms, Sequence Alignment, Sequence Analysis, DNA, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Polymorphous low-grade adenocarcinoma (PLGA) is the second most frequent type of malignant tumor of the minor salivary glands. We identified PRKD1 hotspot mutations encoding p.Glu710Asp in 72.9% of PLGAs but not in other salivary gland tumors. Functional studies demonstrated that this kinase-activating alteration likely constitutes a driver of PLGA.

Published
2014

39. Unraveling the Significance of DGCR8 and miRNAs in Thyroid Carcinoma.

Author

Rodrigues, Lia, Da Cruz Paula, Arnaud, Soares, Paula, and Vinagre, João

Subjects
*THYROID cancer, *MICRORNA, *GENE expression, *REGULATOR genes, *THYROID gland, *THYROTROPIN receptors
Abstract

MicroRNAs (miRNAs) act as negative regulators for protein-coding gene expression impacting cell proliferation, differentiation, and survival. These miRNAs are frequently dysregulated in cancer and constitute classes of blood-based biomarkers useful for cancer detection and prognosis definition. In thyroid cancer (TC), the miRNA biogenesis pathway plays a pivotal role in thyroid gland formation, ensuring proper follicle development and hormone production. Several alterations in the miRNA biogenesis genes are reported as a causality for miRNA dysregulation. Mutations in microprocessor component genes are linked to an increased risk of developing TC; in particular, a recurrent mutation affecting DGCR8, the E518K. In this review, we explore these novel findings and resume the current state-of-the-art in miRNAs in thyroid carcinomas. [ABSTRACT FROM AUTHOR]

Published
2024
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42. Data from Molecular Characterization of Endometrial Carcinomas in Black and White Patients Reveals Disparate Drivers with Therapeutic Implications

Author

Weigelt, Britta, primary, Marra, Antonio, primary, Selenica, Pier, primary, Rios-Doria, Eric, primary, Momeni-Boroujeni, Amir, primary, Berger, Michael F., primary, Arora, Kanika, primary, Nemirovsky, David, primary, Iasonos, Alexia, primary, Chakravarty, Debyani, primary, Abu-Rustum, Nadeem R., primary, Da Cruz Paula, Arnaud, primary, Dessources, Kimberly, primary, Ellenson, Lora H., primary, Liu, Ying L., primary, Aghajanian, Carol, primary, and Brown, Carol L., primary

Published
2023
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43. Supplementary Figures S1-S6 from Molecular Characterization of Endometrial Carcinomas in Black and White Patients Reveals Disparate Drivers with Therapeutic Implications

Author

Weigelt, Britta, primary, Marra, Antonio, primary, Selenica, Pier, primary, Rios-Doria, Eric, primary, Momeni-Boroujeni, Amir, primary, Berger, Michael F., primary, Arora, Kanika, primary, Nemirovsky, David, primary, Iasonos, Alexia, primary, Chakravarty, Debyani, primary, Abu-Rustum, Nadeem R., primary, Da Cruz Paula, Arnaud, primary, Dessources, Kimberly, primary, Ellenson, Lora H., primary, Liu, Ying L., primary, Aghajanian, Carol, primary, and Brown, Carol L., primary

Published
2023
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46. Molecular Characterization of Endometrial Carcinomas in Black and White Patients Reveals Disparate Drivers with Therapeutic Implications

Author

Weigelt, Britta, primary, Marra, Antonio, additional, Selenica, Pier, additional, Rios-Doria, Eric, additional, Momeni-Boroujeni, Amir, additional, Berger, Michael F., additional, Arora, Kanika, additional, Nemirovsky, David, additional, Iasonos, Alexia, additional, Chakravarty, Debyani, additional, Abu-Rustum, Nadeem R., additional, Da Cruz Paula, Arnaud, additional, Dessources, Kimberly, additional, Ellenson, Lora H., additional, Liu, Ying L., additional, Aghajanian, Carol, additional, and Brown, Carol L., additional

Published
2023
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48. Identification of recurrent FHL2-GLI2 oncogenic fusion in sclerosing stromal tumors of the ovary

Author

Kim, Sarah H., Da Cruz Paula, Arnaud, Basili, Thais, Dopeso, Higinio, Bi, Rui, Pareja, Fresia, da Silva, Edaise M., Gularte-Mérida, Rodrigo, Sun, Zhen, Fujisawa, Sho, Smith, Caitlin G., Ferrando, Lorenzo, Martins Sebastião, Ana Paula, Bykov, Yonina, Li, Anqi, Silveira, Catarina, Ashley, Charles W., Stylianou, Anthe, Selenica, Pier, Samore, Wesley R., Jungbluth, Achim A., Zamarin, Dmitriy, Abu-Rustum, Nadeem R., Helin, Kristian, Soslow, Robert A., Reis-Filho, Jorge S., Oliva, Esther, and Weigelt, Britta

Published
2020
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49. Assessment of HMGA2 and PLAG1 rearrangements in breast adenomyoepitheliomas

Author

Pareja, Fresia, Geyer, Felipe C., Brown, David N., Sebastião, Ana P. Martins, Gularte-Mérida, Rodrigo, Li, Anqi, Edelweiss, Marcia, Da Cruz Paula, Arnaud, Selenica, Pier, Wen, Hannah Y., Jungbluth, Achim A., Varga, Zsuzsanna, Palazzo, Juan, Rubin, Brian P., Ellis, Ian O., Brogi, Edi, Rakha, Emad A., Weigelt, Britta, and Reis-Filho, Jorge S.

Published
2019
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50. Decreased HER2 expression in endometrial cancer following anti‐HER2 therapy.

Author

Chui, M Herman, Brown, David N, Da Cruz Paula, Arnaud, da Silva, Edaise M, Momeni‐Boroujeni, Amir, Reis‐Filho, Jorge S, Zhang, Yanming, Makker, Vicky, Ellenson, Lora Hedrick, and Weigelt, Britta

Subjects
ENDOMETRIAL cancer, HER2 protein, FLUORESCENCE in situ hybridization, HER2 gene, GENE amplification
Abstract

Trastuzumab has demonstrated clinical efficacy in the treatment of HER2‐positive serous endometrial cancer (EC), which led to its incorporation into standard‐of‐care management of this aggressive disease. Acquired resistance remains an important challenge, however, and its underlying mechanisms in EC are unknown. To define the molecular changes that occur in response to anti‐HER2 therapy in EC, targeted next‐generation sequencing (NGS), HER2 immunohistochemistry (IHC), and fluorescence in situ hybridization (FISH) were performed on pre‐ and post‐treatment tumour samples from 14 patients with EC treated with trastuzumab or trastuzumab emtansine. Recurrent tumours after anti‐HER2 therapy acquired additional genetic alterations compared with matched pre‐treatment ECs and frequently showed decreased HER2 protein expression by IHC (7/14, 50%). Complete/near‐complete absence of HER2 protein expression (score 0/1+) observed post‐treatment (4/14, 29%) was associated with retained HER2 gene amplification (n = 3) or copy number neutral status (n = 1). Whole‐exome sequencing performed on primary and recurrent tumours from the latter case, which exhibited genetic heterogeneity of HER2 amplification in the primary tumour, revealed selection of an early HER2‐non‐amplified clone following therapy. Our findings demonstrate that loss of target expression, by selection of HER2‐non‐amplified clones or, more commonly, by downregulation of expression, may constitute a mechanism of resistance to anti‐HER2 therapy in HER2‐positive EC. © 2023 The Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Published
2024
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