Article
Oncology
Xiaoxue Yin, Xingming Zhang, Xiuyi Pan, Junya Tan, Linmao Zheng, Qiao Zhou, Ni Chen
Summary: This study analyzed the morphological, immunophenotypic, and molecular changes in tumors with overlapping histological features of metanephric adenomas (MAs) and Wilms' tumors (WTs). The results showed that the molecular changes in these overlapping tumors were the same as those of typical MAs, suggesting that they should be classified as atypical MA. Atypical MA has different histological morphology and a higher Ki-67 index but shares common imaging characteristics, immunophenotype, and gene expression with typical MA. Patients with atypical MA usually have a good prognosis.
FRONTIERS IN ONCOLOGY
(2022)
Article
Oncology
Zhan Wang, Bao-Dong Qin, Chen-Yang Ye, Miao-Miao Wang, Ling-Yan Yuan, Wei-Ping Dai, Li Sun, Ke Liu, Wen-Xing Qin, Xiao-Dong Jiao, Xing-Nan Li, Yuan-Sheng Zang
Summary: This study evaluated the safety and efficacy of a new protocol using vemurafenib and cetuximab combined with FOLFIRI in patients with BRAF V600E-mutated colorectal cancer. The results showed promising antitumour activity and tolerable toxicity with this combination therapy.
EUROPEAN JOURNAL OF CANCER
(2022)
Review
Oncology
Hiroyuki Takeda, Yu Sunakawa
Summary: BRAF mutations are an important poor prognostic factor in mCRC, but greater understanding of patient characteristics through genomic classification allows for more ideal treatment strategies.
FRONTIERS IN ONCOLOGY
(2021)
Article
Multidisciplinary Sciences
Mingguo Xie, Xiongfei Wang, Jiao Qiao, Jian Zhou, Yuguang Guan, Tianfu Li, Xueling Qi, Guoming Luan
Summary: The study evaluated the clinicopathological features and surgical prognosis of epilepsy-associated glioneuronal tumors (GNT) with CD34 expression and BRAF mutation. The results showed that CD34 expression or BRAF mutation in GNT was not associated with surgical outcomes of seizure control and tumor progression-free survival.
SCIENTIFIC REPORTS
(2022)
Review
Oncology
Yuqian Fan, Jingjing Yu, Ming Zhao
Summary: Metanephric stromal tumor (MST) is a rare renal neoplasm that primarily affects pediatric patients, but can also occur in adults. Molecular detection of BRAF mutations can be a useful diagnostic tool to distinguish MST from other renal stromal tumors.
FRONTIERS IN ONCOLOGY
(2022)
Article
Pathology
Sanjun Guo, Huan Qian, Hong Zhu, Yue Yang, Xudan Yang, Huajun Sun
Summary: This case report describes a rare renal tumor called metanephric stromal tumor (MST) in a 45-year-old woman. Genetic analysis revealed a mutation in the PDGFRA gene, but not the BRAF V600E mutation commonly found in pediatric MSTs. The patient had no recurrence or metastasis nine months after surgery and maintained normal blood pressure.
DIAGNOSTIC PATHOLOGY
(2023)
Article
Medicine, General & Internal
Yun-Suk Choi, Seong-Woon Choi, Jin-Wook Yi
Summary: This study identified TERT promoter mutations in PTC and found that they are associated with more aggressive behavior. Patients with TERT promoter mutations were older, had larger tumors, and exhibited other adverse clinical features, resulting in a poorer prognosis compared to those with wild-type TERT gene status.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Medicine, General & Internal
Guodong Fu, Ronald S. Chazen, Christina MacMillan, Ian J. Witterick
Summary: This diagnostic study developed a sensitive molecular assay for detection and quantification of BRAF V600E variation in residual tissue from thyroid FNA biopsies to identify patients with cancer harboring BRAF V600E in a cost-effective manner, highlighting the clinical value of molecular assay of the remaining FNA tissue in the management of thyroid nodules.
Article
Oncology
Emilie Hafliger, Alessandra Boccaccino, Alexandra Lapeyre-Prost, Audrey Perret, Claire Gallois, Maria Antista, Lorenzo Pilla, Thierry Lecomte, Mario Scartozzi, Emilie Soularue, Lisa Salvatore, Vincent Bourgeois, Massimiliano Salati, David Tougeron, Ludovic Evesque, Jean-Nicolas Vaillant, Reem El-Khoury, Sara Lonardi, Chiara Cremolini, Julien Taieb
Summary: The combination of anti-BRAF and anti-EGFRs shows efficacy in patients with BRAFm mCRC previously treated with an anti-EGFR agent. The results of this retrospective study suggest that this combination could be a valuable treatment option for patients with limited therapeutic alternatives.
EUROPEAN JOURNAL OF CANCER
(2022)
Article
Oncology
Jianing Jiang, Jinqi Gao, Gang Wang, Jinyan Lv, Wenting Chen, Jing Ben, Ruoyu Wang
Summary: This study reported the case of a NSCLC patient with lung papillary carcinoma BM harboring a BRAF(V600E) mutation, benefiting from dabrafenib combined with trametinib and remaining effective with vemurafenib following the development of the BRAF(S365L) mutation. Additionally, the study found that NGS of CSF ctDNA may provide more accurate information about intracranial lesions compared to ctDNA in blood serum, indicating a potentially better detection method.
FRONTIERS IN ONCOLOGY
(2021)
Article
Oncology
Emerik Osterlund, Ari Ristimaki, Markus J. Makinen, Soili Kytola, Juha Kononen, Per Pfeiffer, Leena-Maija Soveri, Mauri Keinanen, Halfdan Sorbye, Luis Nunes, Tapio Salminen, Lasse Nieminen, Aki Uutela, Paivi Halonen, Annika Algars, Jari Sundstrom, Raija Kallio, Raija Ristamaki, Annamarja Lamminmaki, Hanna Stedt, Eetu Heerva, Teijo Kuopio, Tobias Sjoblom, Helena Isoniemi, Bengt Glimelius, Pia Osterlund
Summary: BRAF-V600E mutation is a negative prognostic and predictive biomarker in metastatic colorectal cancer. Non-V600E mutations (aBRAFmt) are rare and poorly understood. This study compared the mutation patterns and characteristics of aBRAFmt with other RAS/BRAF groups in three different cohorts. The study found that aBRAFmt represents a distinct subgroup with differences in clinicopathological features, and its prognosis is slightly better than BRAF-V600E but worse than RASmt and RAS & BRAFwt. aBRAFmt should not be a contraindication for metastasectomy.
INTERNATIONAL JOURNAL OF CANCER
(2023)
Article
Chemistry, Multidisciplinary
Elena Porumb-Andrese, Ramona Gabriela Ursu, Iuliu Ivanov, Irina-Draga Caruntu, Vlad Porumb, Dan Ferariu, Costin Damian, Delia Ciobanu, Cristina Terinte, Luminita Smaranda Iancu
Summary: The study identified a high prevalence (60%) of BRAF V600E mutation in Romanian patients with primary cutaneous melanoma, with the mutation being associated with age, type of melanoma, and location on the body.
APPLIED SCIENCES-BASEL
(2021)
Article
Biochemistry & Molecular Biology
Yuhui Li, Dan Li, Yankun Liu, Shuqing Wang, Mingyang Sun, Zhongyuan Zhang, Xuan Zheng, Jingwu Li, Yufeng Li
Summary: The study identified NHE1 as a downstream target of BRAF(V600E) and an upstream factor of ERK, with a positive feedback loop between NHE1 and ERK phosphorylation promoting GBM cell proliferation and invasion. Both NHE1 inhibitor, BRAF(V600E) inhibitor, and their combination showed efficacy in suppressing the growth and invasion abilities of GBM cells, with the combination demonstrating the best results.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2022)
Review
Medicine, General & Internal
Morena Fasano, Carminia Maria Della Corte, Marianna Caterino, Mario Pirozzi, Raffaele Rauso, Teresa Troiani, Giulia Martini, Stefania Napolitano, Floriana Morgillo, Fortunato Ciardiello
Summary: In this case report, a patient with recurrent craniopharyngioma harboring BRAF V600E mutation received targeted therapy with a combination of BRAF inhibitor and MEK inhibitor, showing significant clinical improvement and rapid response.
FRONTIERS IN MEDICINE
(2022)
Article
Chemistry, Analytical
Weicheng Shi, Yao Gong, Decai Zhang, Tiantian Yang, Ming Yi, Jingyi Tan, Shijia Ding, Wei Cheng
Summary: In this study, a strategy based on rolling circle amplification and CRISPR/Cas14a was developed for highly specific detection of BRAF V600E mutation in fine-needle biopsy samples. The method showed outstanding specificity and discrimination ability, and was successfully applied in clinical samples. This approach provides a novel method for the diagnosis and treatment of cancer.
ANALYTICAL METHODS
(2022)
Article
Dermatology
Christophe Perrin, Damien Ambrosetti, Brigitte Balme, Luc Thomas
AMERICAN JOURNAL OF DERMATOPATHOLOGY
(2020)
Article
Neurosciences
Nirvana Sadaghianloo, Julie Contenti, Serge Declemy, Damien Ambrosetti, Masa Zdralevic, Mounia Tannour-Louet, Lucilla Fabbri, Gilles Pages, Frederic Bost, Reda Hassen-Khodja, Jacques Pouyssegur, Elixene Jean-Baptiste, Alan Dardik, Nathalie M. Mazure
Summary: Patients with end-stage renal failure need AVFs for dialysis, but these AVFs often fail due to excessive venous thickness. This study found that venous cells adapt their metabolism depending on oxygen concentration, and targeting the hypoxic response pathway with drugs can help decrease excessive venous thickness. In a mouse model, inhibiting HIFs decreased neointimal hyperplasia, suggesting that drugs targeting HIFs could prevent AVF failure.
JOURNAL OF PHYSIOLOGY-LONDON
(2021)
Article
Biology
Maeva Dufies, Annelies Verbiest, Lindsay S. Cooley, Papa Diogop Ndiaye, Xingkang He, Nicolas Nottet, Wilfried Souleyreau, Anais Hagege, Stephanie Torrino, Julien Parola, Sandy Giuliano, Delphine Borchiellini, Renaud Schiappa, Baharia Mograbi, Jessica Zucman-Rossi, Karim Bensalah, Alain Ravaud, Patrick Auberger, Andreas Bikfalvi, Emmanuel Chamorey, Nathalie Rioux-Leclercq, Nathalie M. Mazure, Benoit Beuselinck, Yihai Cao, Jean Christophe Bernhard, Damien Ambrosetti, Gilles Pages
Summary: Dufies et al. found high Plk1 expression levels in aggressive clear cell renal cell carcinoma and discovered that Plk1 is transcriptionally upregulated in a manner dependent on HIF-2. They also found that high Plk1 expression is correlated to a poor prognosis and resistance to tyrosine kinase inhibitor against VEGF receptor, suggesting a critical role for hypoxia/HIF-2-induced Plk1 in disease progression.
COMMUNICATIONS BIOLOGY
(2021)
Article
Urology & Nephrology
Damien Ambrosetti, Michael Coutts, Charlotte Paoli, Matthieu Durand, Delphine Borchiellini, Christopher Montemagno, Olivia Rastoin, Arnaud Borderie, Renaud Grepin, Nathalie Rioux-Leclercq, Jean-Christophe Bernhard, Gilles Pages, Maeva Dufies
Summary: The study found that VEGFR-TKI significantly increased the number of CAFs in tumors, which were associated with shorter disease-free and overall survival in patients. The presence of CAFs was also correlated with lymphangiogenesis and lymph node metastasis, and CAFs promoted cell migration while reducing the cytotoxic effect of VEGFR-TKI on tumor cells.
Article
Oncology
Ilaria Di Mauro, Berengere Dadone-Montaudie, Mathilde Sibony, Damien Ambrosetti, Vincent Molinie, Myriam Decaussin-Petrucci, Vincent Bland, Claire Arbaud, Beatrice Cenciu, Francois Arbib, Pierre-Alexandre Just, Jonathan Derman, Nathalie Rioux-Leclercq, Florence Pedeutour
Summary: Accurately diagnosing Xp11-translocation renal cell carcinoma (RCC) in adults can be challenging, with TFE3 fusion generally occurring with a partner gene on another chromosome but occasionally with neighboring gene RBM10. Despite the difficulty, it is crucial to molecularly detect RBM10-TFE3 fusion as it is not exceptional in adult cases and may require targeted RNA sequencing for confirmation. Additionally, investigating RCC with type-2 papillary features and 17q gain by RNASeq could be a valuable avenue for further research.
GENES CHROMOSOMES & CANCER
(2021)
Article
Urology & Nephrology
Francois-Xavier Deledalle, Damien Ambrosetti, Mathieu Durand, Floriane Michel, Michael Baboudjian, Bastien Gondran-Tellier, Francois Lannes, Laurent Daniel, Marc Andre, Pierre-Olivier Fais, Pierre-Henri Savoie, Xavier Durand, Dominique Rossi, Gilles Karsenty, Cyrille Bastide, Eric Lechevallier, Romain Boissier
Summary: This study reported on the outcomes and feasibility of active surveillance of biopsy-proven renal oncocytomas. The results showed that active surveillance was oncologically safe with high patient adherence, low tumor growth rate, and high biopsy efficacy. No predictive factors for tumor growth could be identified.
Article
Dermatology
Christophe Perrin, Damien Ambrosetti
Summary: This study characterizes the features and diagnostic criteria of pleomorphic onychomatricoma, a rare condition that mimics malignant neoplasms.
ACTA DERMATO-VENEREOLOGICA
(2022)
Article
Biochemistry & Molecular Biology
Lindsay S. Cooley, Justine Rudewicz, Wilfried Souleyreau, Andrea Emanuelli, Arturo Alvarez-Arenas, Kim Clarke, Francesco Falciani, Maeva Dufies, Diether Lambrechts, Elodie Modave, Domitille Chalopin-Fillot, Raphael Pineau, Damien Ambrosetti, Jean-Christophe Bernhard, Alain Ravaud, Sylvie Negrier, Jean-Marc Ferrero, Gilles Pages, Sebastien Benzekry, Macha Nikolski, Andreas Bikfalvi
Summary: By serially passaging mouse renal cancer cells in vivo, researchers generated multiple cell lines with varying aggressiveness and identified distinct molecular markers and gene processes associated with different stages of tumor progression using transcriptome, genome and methylome analyses. Specific biomarkers such as SAA2 and CFB were identified as soluble prognostic and predictive markers of therapeutic response, with machine learning and mathematical modeling highlighting their significant impact on distant metastasis-free survival. A computational model predicting tumor progression and relapse was developed and validated, providing important translational implications for RCC therapy.
Article
Cell Biology
Solene-Florence Kammerer-Jacquet, Camille Gandon, Frederic Dugay, Brigitte Laguerre, Benoit Peyronnet, Romain Mathieu, Gregory Verhoest, Karim Bensalah, Xavier Leroy, Sebastien Aubert, Catherine Vermaut, Fabienne Escande, Virginie Verkarre, Eva Comperat, Damien Ambrosetti, Florence Pedeutour, Marc-Antoine Belaud-Rotureau, Nathalie Rioux-Leclercq
Summary: This study reports the clinical, histological, immunohistochemical, and genetic features of nine cases of renal cell carcinoma with TFEB amplification. The diagnosis of this rare molecular subgroup is confirmed by FISH analysis, and CGH analysis reveals complex genomic alterations. The prognosis is poor, and combination therapy might be beneficial for these aggressive tumors.
Letter
Cell Biology
Christophe Perrin, Giorgio Toni, Michael Coutts, Damien Ambrosetti
Review
Biochemistry & Molecular Biology
Audrey Simonaggio, Damien Ambrosetti, Virginie Verkarre, Marie Auvray, Stephane Oudard, Yann-Alexandre Vano
Summary: MiTF/TFE translocation renal cell carcinoma (tRCC) is a rare and aggressive subtype of RCC, which is more prevalent in the pediatric population and represents 4% of all RCCs in adults. The diagnosis of tRCC involves translocations of genes such as TFE3, TFEB or MITF. TFE break-apart fluorescent in situ hybridization (FISH) is considered the gold standard for diagnosis. tRCC exhibits heterogeneous clinical behaviors and is more aggressive in adults. Effective treatment options for metastatic tRCC are limited, highlighting the need for better therapeutic approaches. Comprehensive genetic sequencing analyses have provided insights into the biological heterogeneity of tRCC, aiding in the development of more effective treatments.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Urology & Nephrology
Astrid Boulenger de Hauteclocque, Loic Ferrer, Damien Ambrosetti, Solene Ricard, Pierre Bigot, Karim Bensalah, Francois Henon, Nicolas Doumerc, Arnaud Mejean, Virginie Verkarre, Charles Dariane, Stephane Larre, Cecile Champy, Alexandre de La Taille, Franck Bruyere, Morgan Roupret, Philippe Paparel, Stephane Droupy, Alexis Fontenil, Jean-Jacques Patard, Xavier Durand, Thibaut Waeckel, Herve Lang, Cedric Lebacle, Laurent Guy, Geraldine Pignot, Matthieu Durand, Jean-Alexandre Long, Thomas Charles, Evanguelos Xylinas, Romain Boissier, Mokrane Yacoub, Thierry Colin, Jean-Christophe Bernhard
Summary: This study assessed the impact of pathological upstaging in renal cell carcinoma patients and evaluated the oncological safety of different surgical approaches. A machine-learning model was developed to predict upstaging. The findings showed that machine-learning technology can be useful in evaluating and predicting upstaging in renal cell carcinoma. Partial nephrectomy did not compromise oncological outcomes in incidental upstaging, even for large tumors.
Review
Urology & Nephrology
Michael Baboudjian, Daniel Moser, Takafumi Yanagisawa, Bastien Gondran-Tellier, Eva M. Comperat, Damien Ambrosetti, Laurent Daniel, Cyrille Bastide, Shahrokh F. Shariat, Eric Lechevallier, Pietro Diana, Alberto Breda, Benjamin Pradere, Romain Boissier
Summary: Active surveillance of biopsy-proven renal oncocytomas shows a low tumor growth rate, with oncological safety and good patient compliance. AS may represent a promising alternative to immediate treatment. Further studies on the long-term outcomes of AS are needed.
EUROPEAN UROLOGY OPEN SCIENCE
(2022)
Proceedings Paper
Cardiac & Cardiovascular Systems
Rudan Xiao, Eric Debreuve, Damien Ambrosetti, Xavier Descombes
Summary: This study investigates the importance of vascular network structure in RCC diagnosis, and builds a dataset and features to demonstrate the role of vascular networks in RCC histopathological images.
MEDICAL IMAGE COMPUTING AND COMPUTER ASSISTED INTERVENTION - MICCAI 2021, PT VI
(2021)
Article
Medicine, Research & Experimental
Anais Hagege, Damien Ambrosetti, Julien Boyer, Alexandre Bozec, Jerome Doyen, Emmanuel Chamorey, Xingkang He, Isabelle Bourget, Julie Rousset, Esma Saada, Olivia Rastoin, Julien Parola, Frederic Luciano, Yihai Cao, Gilles Pages, Maeva Dufies
Summary: High expression of Plk1 is associated with poor prognosis in HNSCC, while onvansertib shows potential therapeutic effects by inducing apoptosis. Combination of onvansertib with cisplatin and/or radiotherapy synergistically induces tumor cell death.