Article
Oncology
Xingxiang Pu, Sa Yang, Yan Xu, Bolin Chen, Qianzhi Wang, Qian Gong, Lin Wu
Summary: The tissue origins of four CUP cases were successfully identified through gene expression profiling analysis, allowing for accurate treatment and providing guidance for future therapeutic decisions to treat CUP tumors.
FRONTIERS IN ONCOLOGY
(2021)
Article
Oncology
Yi Zhang, Lei Xia, Dawei Ma, Jing Wu, Xinyu Xu, Youtao Xu
Summary: The expression characteristics of 90 genes can accurately identify the primary sites of CUP, assisting in pathological diagnosis and improving treatment and prognosis for patients.
FRONTIERS IN ONCOLOGY
(2021)
Article
Oncology
Bo Yu, Qifeng Wang, Xin Liu, Silong Hu, Liangping Zhou, Qinghua Xu, Yifeng Sun, Xichun Hu, Zhiguo Luo, Xiaowei Zhang
Summary: This article presents a case report of a patient with CUP who was successfully diagnosed and treated via comprehensive molecular profiling. The analysis of gene expression and liquid biopsy identified the tumor origin and genetic alterations, leading to appropriate treatment. Currently, the patient's disease is under control.
FRONTIERS IN ONCOLOGY
(2022)
Article
Oncology
James J. Saller, Mintallah Haider, Sameer Al-Diffalha, Domenico Coppola
Summary: This study focused on cases of Cancer of Unknown Primary (CUP) with neuroendocrine neoplasms (NENs), where the diagnosis was challenging. By using gene expression profiling (GEP), the study was able to accurately determine the subtype and primary site of NENs, which is crucial for their clinical management.
ANTICANCER RESEARCH
(2022)
Article
Oncology
Atara Posner, Owen Wj Prall, Tharani Sivakumaran, Dariush Etemadamoghadam, Niko Thio, Andrew Pattison, Shiva Balachander, Krista Fisher, Samantha Webb, Colin Wood, Anna DeFazio, Nicholas Wilcken, Bo Gao, Christos S. Karapetis, Madhu Singh, Ian M. Collins, Gary Richardson, Christopher Steer, Mark Warren, Narayan Karanth, Gavin Wright, Scott Williams, Joshy George, Rodney J. Hicks, Alex Boussioutas, Anthony J. Gill, Benjamin J. Solomon, Huiling Xu, Andrew Fellowes, Stephen B. Fox, Penelope Schofield, David Bowtell, Linda Mileshkin, Richard W. Tothill
Summary: This study compared the diagnostic utility of RNA and DNA tests in 215 CUP patients, and found that DNA mutation profiling was more diagnostically informative, especially for cases unresolved by clinicopathology assessment alone.
JOURNAL OF PATHOLOGY
(2023)
Article
Oncology
Xin Wang, Andrea Beharry, Brandon S. Sheffield, Parneet K. Cheema
Summary: This study explores the application of rapid next-generation sequencing in defining cancer of unknown primary and demonstrates the feasibility of integrating genomic profiling with diagnostic histopathology and immunohistochemistry in a community practice setting. The study suggests that diagnostic algorithms incorporating genomic profiling should be considered for better defining cancer of unknown primary.
Article
Oncology
Xin Wang, Andrea Beharry, Brandon S. Sheffield, Parneet K. Cheema
Summary: This study investigates the use of rapid next-generation sequencing to define cancer of unknown primary and identify therapeutic biomarkers. The results support the implementation of this technology in clinical practice to improve diagnosis and treatment options for patients with cancer of unknown primary.
Article
Oncology
Noemi Laprovitera, Mattia Riefolo, Elisa Porcellini, Giorgio Durante, Ingrid Garajova, Francesco Vasuri, Ariane Aigelsreiter, Nadia Dandachi, Giuseppe Benvenuto, Federico Agostinis, Silvia Sabbioni, Ioana Berindan Neagoe, Chiara Romualdi, Andrea Ardizzoni, Davide Trere, Martin Pichler, Antonietta D'Errico, Manuela Ferracin
Summary: In this study, miRNA expression profiling was successfully used to infer the tissue of origin for metastatic cancers of unknown or uncertain origin, providing diagnostic and prognostic value. The molecular test was able to identify the primary site within a week from biopsy, with the most frequently predicted origins being gastrointestinal, pancreas, breast, lung, and bile duct. Additionally, a panel of 13 miRNAs showed prognostic value and relationship with overall survival in CUP patients.
MOLECULAR ONCOLOGY
(2021)
Article
Oncology
Jeffrey S. Ross, Ethan S. Sokol, Holger Moch, Linda Mileshkin, Giulia Baciarello, Ferran Losa, Andreas Beringer, Marlene Thomas, Julia A. Elvin, Nhu Ngo, Dexter X. Jin, Alwin Kraemer
Summary: The retrospective analysis of CUP cases confirmed the eligibility of patients for targeted or immunotherapy treatment arms in the ongoing CUPISCO trial. The study suggests that future research may identify a greater proportion of CUP patients who could benefit from comprehensive genomic profiling-informed treatment by including additional biomarkers and treatment arms such as PD-L1 positivity and genomic loss of heterozygosity.
Article
Oncology
Atara Posner, Tharani Sivakumaran, Andrew Pattison, Dariush Etemadmoghadam, Niko Thio, Colin Wood, Krista Fisher, Samantha Webb, Anna DeFazio, Nicholas Wilcken, Bo Gao, Christos S. Karapetis, Madhu Singh, Ian M. Collins, Gary Richardson, Christopher Steer, Mark Warren, Narayan Karanth, Andrew Fellowes, Stephen B. Fox, Rodney J. Hicks, Penelope Schofield, David Bowtell, Owen W. J. Prall, Richard William Tothill, Linda Mileshkin
Summary: This study evaluated immune and genomic biomarkers as well as predicted tissue of origin in patients with cancer of unknown primary (CUP). It was found that some CUP tumors had genomic features associated with response to immune checkpoint inhibitors (ICIs), and a high immune-related (IR) score was the most sensitive predictive feature of ICI response, which should be further evaluated in a larger patient series.
JOURNAL FOR IMMUNOTHERAPY OF CANCER
(2023)
Article
Medicine, Research & Experimental
Kaiyan Chen, Fanrong Zhang, Xiaoqing Yu, Zhiyu Huang, Lei Gong, Yanjun Xu, Hui Li, Sizhe Yu, Yun Fan
Summary: This study evaluated the concordance between genome profiling and DNA methylation analysis in determining the tissue of origin (TOO) for lung-specific cancer of unknown primary (CUP). The results showed that both methods were effective in inferring clonality and TOO, and proposed an integrative scheme for diagnosing and treating this type of cancer.
JOURNAL OF TRANSLATIONAL MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Xiaomo Li, Eric Vail, Horacio Maluf, Manita Chaum, Matthew Leong, Joseph Lownik, Mingtian Che, Armando Giuliano, Duoyao Cao, Farnaz Dadmanesh
Summary: Fibroepithelial lesions of the breast (FELs) are a group of heterogeneous tumors, and the gene-expression-profiling-based approach could provide important information for their stratification and improve histologic diagnostic algorithm.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemical Research Methods
Yifei Shen, Qinjie Chu, Xinxin Yin, Yinjun He, Panpan Bai, Yunfei Wang, Weijia Fang, Michael P. Timko, Longjiang Fan, Weiqin Jiang
Summary: The study developed a gene expression rank-based majority vote algorithm (TOD-CUP) for tissue origin diagnosis of 24 cancer types, utilizing massive RNA-seq data sets and 538 feature genes. Validation results showed high accuracy of the algorithm across different data platforms.
BRIEFINGS IN BIOINFORMATICS
(2021)
Article
Oncology
Mateo Paz-Cabezas, Tania Calvo-Lopez, Alejandro Romera-Lopez, Daniel Tabas-Madrid, Jesus Ogando, Maria-Jesus Fernandez-Acenero, Javier Sastre, Alberto Pascual-Montano, Santos Manes, Eduardo Diaz-Rubio, Beatriz Perez-Villamil
Summary: This study demonstrates the potential of microRNA profiling in defining colorectal cancer subtypes and identifies microRNA targets associated with a specific subtype. The findings highlight the importance of miRNAs in colorectal cancer stratification and treatment.
Article
Biochemistry & Molecular Biology
Adam Ustaszewski, Magdalena Kostrzewska-Poczekaj, Joanna Janiszewska, Malgorzata Jarmuz-Szymczak, Malgorzata Wierzbicka, Joanna Marszal, Reidar Grenman, Maciej Giefing
Summary: The study found that control samples and malignant samples were mainly separated by malignancy and cell culture-microenvironment. It is suggested to use cultured epithelial cells as controls for gene expression profiling of cancer cell lines.
Article
Pathology
Lorenza Mittempergher, Leonie J. M. J. Delahaye, Anke T. Witteveen, Jacob B. Spangler, Fariet Hassenmahomed, Sammy Mee, Soufiane Mahmoudi, Jiang Chen, Simon Bao, Mireille H. J. Snel, Sandra Leidelmeijer, Naomi Besseling, Anne Bergstrom Lucas, Carlos Pabon-Pena, Sabine C. Linn, Christa Dreezen, Diederik Wehkamp, Bob Y. Chan, Rene Bernards, Laura J. van't Veer, Annuska M. Glas
JOURNAL OF MOLECULAR DIAGNOSTICS
(2019)
Article
Oncology
Laurence Slembrouck, Lauren Darrigues, Cecile Laurent, Lorenza Mittempergher, Leonie J. M. J. Delahaye, Isabelle Vanden Bempt, Sara Vander Borght, Liesbet Vliegen, Petra Sintubin, Virginie Raynal, Mylene Bohec, Cecile Reyes, Audrey Rapinat, Celine Helsmoortel, Lynn Jongen, Griet Hoste, Patrick Neven, Hans Wildiers, Ann Smeets, Ines Nevelsteen, Kevin Punie, Els Van Nieuwenhuysen, Sileny Han, Anne Vincent Salomon, Enora Laas Faron, Timothe Cynober, David Gentien, Sylvain Baulande, Mireille H. J. Snel, Anke T. Witteveen, Sari Neijenhuis, Annuska M. Glas, Fabien Reyal, Giuseppe Floris
TRANSLATIONAL ONCOLOGY
(2019)
Article
Oncology
Andreas Schlicker, Architha Ellappalayam, Ines J. Beumer, Mireille H. J. Snel, Lorenza Mittempergher, Begona Diosdado, Christa Dreezen, Sun Tian, Ramon Salazar, Fotios Loupakis, Filippo Pietrantonio, Cristina Santos Vivas, Maria Mercedes Martinez-Villacampa, Alberto Villanueva, Xavier Sanjuan, Marta Schirripa, Matteo Fassan, Antonia Martinetti, Giovanni Fuca, Sara Lonardi, Ulrich Keilholz, Annuska M. Glas, Rene Bernards, Loredana Vecchione
INTERNATIONAL JOURNAL OF CANCER
(2020)
Article
Oncology
Lorenza Mittempergher, Leonie J. M. J. Delahaye, Anke T. Witteveen, Mireille H. J. Snel, Sammy Mee, Bob Y. Chan, Christa Dreezen, Naomi Besseling, Ernest J. T. Luiten, Annuska M. Glas
TRANSLATIONAL ONCOLOGY
(2020)
Article
Biology
Laurent Jacob, Anke Witteveen, Ines Beumer, Leonie Delahaye, Diederik Wehkamp, Jeroen van den Akker, Mireille Snel, Bob Chan, Arno Floore, Niels Bakx, Guido Brink, Coralie Poncet, Jan Bogaerts, Mauro Delorenzi, Martine Piccart, Emiel Rutgers, Fatima Cardoso, Terence Speed, Laura van't Veer, Annuska Glas
COMMUNICATIONS BIOLOGY
(2020)
Article
Oncology
Martine Piccart, Laura J. van 't Veer, Coralie Poncet, Josephine M. N. Lopes Cardozo, Suzette Delaloge, Jean-Yves Pierga, Peter Vuylsteke, Etienne Brain, Suzan Vrijaldenhoven, Peter A. Neijenhuis, Sylvian Causeret, Tineke J. Smilde, Giuseppe Viale, Annuska M. Glas, Mauro Delorenzi, Christos Sotiriou, Isabel T. Rubio, Sherko Kummel, Gabriele Zoppoli, Alastair M. Thompson, Erika Matos, Khalil Zaman, Florentine Hilbers, Debora Fumagalli, Peter Ravdin, Susan Knox, Konstantinos Tryfonidis, Aleksandra Peric, Bart Meulemans, Jan Bogaerts, Fatima Cardoso, Emiel J. T. Rutgers
Summary: The MINDACT trial demonstrated that patients with breast cancer of high clinical and low genomic risk who did not receive chemotherapy had excellent 5-year distant metastasis-free survival. The long-term follow-up results, including exploratory analysis by age, further support the use of genomic testing in identifying patients who can forgo chemotherapy. Chemotherapy showed different effects on distant metastasis-free survival based on age and nodal status, especially in hormone receptor-positive, HER2-negative disease.
Article
Medicine, Research & Experimental
Ryan Van Laar, Samuel King, Richard McCoy, Mirette Saad, Sian Fereday, Ingrid Winship, Catherine Uzzell, Anthony Landgren
Summary: The study evaluated the MEL38 signature in tissue biopsies representing various stages of melanoma, showing that the MEL38 score is a reliable metric for melanoma status, accurately stratifying high-risk and low-risk melanomas. The inclusion of the MEL38 score in routine clinical practice could provide personalized genomic information about skin lesions and improve diagnostic accuracy and patient outcomes.
BIOMARKERS IN MEDICINE
(2021)
Article
Oncology
Josien C. Haan, Rajith Bhaskaran, Architha Ellappalayam, Yannick Bijl, Christian J. Griffioen, Ersan Lujinovic, William M. Audeh, Frederique Penault-Llorca, Lorenza Mittempergher, Annuska M. Glas
Summary: MammaPrint and BluePrint gene signatures can stratify early-stage breast cancer patients into risk groups, with MammaPrint further dividing into four subgroups. Pathway expression profiles of low and high-risk patients show differences, reflecting proliferative and metastatic characteristics.
GENES CHROMOSOMES & CANCER
(2022)
Article
Oncology
Josephine M. N. Lopes Cardozo, Caroline A. Drukker, Emiel J. T. Rutgers, Marjanka K. Schmidt, Annuska M. Glas, Anke Witteveen, Fatima Cardoso, Martine Piccart, Laura J. Esserman, Coralie Poncet, Laura J. van't Veer
Summary: Through studying patients with a 70-gene signature ultralow-risk breast cancer, it was found that these patients have excellent prognosis, with an 8-year breast cancer-specific survival rate above 99%, suggesting that they could be candidates for further de-escalation of treatment to avoid overtreatment and the risk of side effects.
JOURNAL OF CLINICAL ONCOLOGY
(2022)
Article
Oncology
Jennifer A. Crozier, Julie Barone, Pat Whitworth, Abraham Cheong, Robert Maganini, Jose Perez Tamayo, Patricia Dauer, Shiyu Wang, William Audeh, Annuska M. Glas
Summary: The study aimed to evaluate the concordance of MammaPrint and BluePrint results between preoperative core needle biopsy (CNB) and surgical resection (SR) samples for breast cancer. The findings indicate high concordance between CNB and SR samples for both MammaPrint risk classification and BluePrint molecular subtyping.
JOURNAL OF SURGICAL ONCOLOGY
(2022)
Article
Oncology
M. Opdam, V van der Noort, M. Kleijn, A. Glas, I Mandjes, S. Kleiterp, F. S. Hilbers, D. T. Kruger, A. D. Bins, P. C. de Jong, P. P. J. B. M. Schiphorst, T. van Dalen, B. Flameling, R. C. Rietbroek, A. Beeker, S. M. van den Heiligenberg, S. D. Bakker, A. N. M. Wymenga, I. M. Oving, R. M. Bijlsma, P. J. van Diest, J. B. Vermorken, H. van Tinteren, S. C. Linn
Summary: The aim of this study was to validate the effectiveness of the 70-gene signature in endocrine therapy decision making. The results showed that postmenopausal node-negative ER+HER2- patients with an ultralow-risk 70-gene signature score had excellent 10-year distant recurrence-free interval after surgery with a median of 1 year of endocrine treatment.
BREAST CANCER RESEARCH AND TREATMENT
(2022)
Article
Oncology
Midas M. Kuilman, Architha Ellappalayam, Andrei Barcaru, Josien C. Haan, Rajith Bhaskaran, Diederik Wehkamp, Andrea R. Menicucci, William M. Audeh, Lorenza Mittempergher, Annuska M. Glas
Summary: This study identifies and examines dual subtype tumors in early-stage breast cancer using the Purpose BluePrint test, revealing distinct biological characteristics and treatment response differences between different subtypes.
BREAST CANCER RESEARCH AND TREATMENT
(2022)
Article
Dermatology
Ryan Van Laar, Babak Latif, Sam King, Christopher Love, Nadine Taubenheim, Esha Kalanooriya, Wandi Wang, Mirette Saad, Ingrid Winship, Anthony Azzi, Alister Lilleyman, Tony Landgren
Summary: This study validated a circulating microRNA signature (MEL38) for diagnosing invasive melanoma and developed a complementary prognostic microRNA signature (MEL12) that predicts sentinel lymph node status, clinical stage, and survival probability.
BRITISH JOURNAL OF DERMATOLOGY
(2023)
Article
Multidisciplinary Sciences
Ha-Linh Nguyen, Tatjana Geukens, Marion Maetens, Samuel Aparicio, Ayse Bassez, Ake Borg, Jane Brock, Annegien Broeks, Carlos Caldas, Fatima Cardoso, Maxim De Schepper, Mauro Delorenzi, Caroline A. Drukker, Annuska M. Glas, Andrew R. Green, Edoardo Isnaldi, Jorunn Eyfjoro, Hazem Khout, Stian Knappskog, Savitri Krishnamurthy, Sunil R. Lakhani, Anita Langerod, John W. M. Martens, Amy E. McCart Reed, Leigh Murphy, Stefan Naulaerts, Serena Nik-Zainal, Ines Nevelsteen, Patrick Neven, Martine Piccart, Coralie Poncet, Kevin Punie, Colin Purdie, Emad A. Rakha, Andrea Richardson, Emiel Rutgers, Anne Vincent-Salomon, Peter T. Simpson, Marjanka K. Schmidt, Christos Sotiriou, Paul N. Span, Kiat Tee Benita Tan, Alastair Thompson, Stefania Tommasi, Karen Van Baelen, Marc Van de Vijver, Steven Van Laere, Laura van't Veer, Giuseppe Viale, Alain Viari, Hanne Vos, Anke T. Witteveen, Hans Wildiers, Giuseppe Floris, Abhishek D. Garg, Ann Smeets, Diether Lambrechts, Elia Biganzoli, Francois Richard, Christine Desmedt
Summary: Obesity is associated with an increased risk of developing breast cancer and worse prognosis in breast cancer patients. This study investigates the biological differences in untreated primary breast cancer according to patients' body mass index (BMI). The study finds several genomic alterations that are differentially prevalent in overweight or obese patients compared to lean patients. It also reveals an elevated and unresolved inflammation of the breast cancer tumor microenvironment associated with obesity. The findings suggest that patient adiposity may play a significant role in the heterogeneity of breast cancer and should be considered for tailored treatment.
NATURE COMMUNICATIONS
(2023)
Meeting Abstract
Oncology
A. Ellappalayam, M. Kuilman, L. Mittempergher, D. Wehkamp, B. Chan, R. Bhaskaran, A. Glas
EUROPEAN JOURNAL OF CANCER
(2020)