Article
Cell Biology
Xiao Teng, Zhen Chen, Lichen Zhang, Xiaodong Teng
Summary: This study aims to describe a distinct and rare histological subtype of pulmonary bronchiolar adenoma: bronchiolar adenoma with squamous metaplasia. Clinicopathological, immunohistochemical, and molecular characteristics of five cases were examined. The samples showed bilayered bronchiolar-type cells, sheet-like spindle-oval cells with squamous metaplasia in the stroma. Immunohistochemistry analysis revealed positive staining for TTF-1, Napsin A, P40, P63, and BRAF V600E. It is important to differentiate this subtype from pulmonary sclerosing pneumocytoma.
Article
Oncology
Yuan-jun Cai, Long-feng Ke, Wen-wen Zhang, Jian-ping Lu, Yan-ping Chen
Summary: This study identified distinct mutation rates in KIT, BRAF, SF3B1, KRAS, and NRAS genes in gynecologic melanoma compared to other types of melanomas. These findings support the notion that gynecologic melanoma is a distinct entity and offer insights into future therapeutic options for patients with this condition.
Article
Multidisciplinary Sciences
Chao Liu, Min Zhang, Xinlong Yan, Yanli Ni, Yandong Gong, Cong Wang, Xiaoling Zhang, Lingfei Wan, Hui Yang, Chen Ge, Yunqiao Li, Wenxue Zou, Rui Huang, Xiaohui Li, Bing Sun, Bing Liu, Jinbo Yue, Jinming Yu
Summary: By performing single-cell RNA sequencing on human cervical tissues at different stages of malignancy, this study reveals the transcriptional tumorigenic trajectory of cervical epithelial cells in cervical squamous cell carcinoma (CESC) and identifies key factors involved in CESC initiation and progression. It also shows significant correlations between specific myeloid, lymphoid, and endothelial cell populations and CESC progression, as well as their association with patients' prognosis. Furthermore, the study demonstrates the tumor-promoting function of matrix cancer-associated fibroblasts via the NRG1-ERBB3 pathway in CESC. This research provides valuable insights for refining CESC diagnosis and designing optimal treatment strategies.
Review
Oncology
Anne Liu, Yanyu Zhu, Weiping Chen, Glenn Merlino, Yanlin Yu
Summary: PTEN is a critical tumor suppressor gene with multifunctional phosphatase activity, and its protein-phosphatase activity plays a crucial role in tumor progression, although its mechanism is not fully understood.
Article
Gastroenterology & Hepatology
Ahmad A. Al-Shaibi, Ussama M. Abdel-Motal, Satanay Z. Hubrack, Alex N. Bullock, Amna A. Al-Marri, Nourhen Agrebi, Abdulrahman A. Al-Subaiey, Nazira A. Ibrahim, Adrian K. Charles, Mamoun Elawad, Holm H. Uhlig, Bernice Lo
Summary: The study identified a missense variant in the AGR2 gene in two siblings with infantile-onset inflammatory bowel disease, which led to reduced goblet cells and mucosal barrier defects.
CELLULAR AND MOLECULAR GASTROENTEROLOGY AND HEPATOLOGY
(2021)
Article
Immunology
Yifan Xie, Fenli Shao, Juan Lei, Na Huang, Zhidan Fan, Haiguo Yu
Summary: Inherited autosomal dominant gain-of-function mutations of STAT1 can cause various symptoms, such as chronic mucocutaneous candidiasis, infections, and autoimmune disorders. This study presents a rare case of STAT1 mutation with recurrent chronic mucocutaneous candidiasis, lung infections, and anemia. Treatment with ruxolitinib may be a viable option for disease management.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Veterinary Sciences
Edyta Golinska, Natalia Sowinska, Anna Tomusiak-Plebanek, Marlena Szydlo, Natalia Witka, Joanna Lenarczyk, Magdalena Strus
Summary: The most common bacteria found in the genital tract of bitches included Escherichia coli, Staphylococcus pseudintermedius, and Streptococcus canis. Gram-negative rods (other than E. coli) were significantly more prevalent in the group with genital tract infections compared to healthy dogs. No Chlamydiaceae, Chlamydia abortus, or lactic acid-producing bacteria were detected in the tested swabs.
BMC VETERINARY RESEARCH
(2021)
Article
Oncology
Sara Lazaro, Corina Lorz, Ana Belen Enguita, Ivan Seller, Jesus M. Paramio, Mirentxu Santos
Summary: Lung cancer is a leading cause of cancer death worldwide. This study investigates the impact of deleting tumor suppressor genes in adult mice's lungs and identifies a new mouse model for pulmonary sarcomatoid carcinoma (PSC). PSC is rare and lacks effective treatment and preclinical models, making this discovery significant for further research and understanding the relationship between different types of non-small cell lung cancer.
Review
Virology
Massimiliano Creta, Caterina Sagnelli, Giuseppe Celentano, Luigi Napolitano, Roberto La Rocca, Marco Capece, Gianluigi Califano, Armando Calogero, Antonello Sica, Francesco Mangiapia, Massimo Ciccozzi, Ferdinando Fusco, Vincenzo Mirone, Evangelista Sagnelli, Nicola Longo
Summary: This systematic review identified studies on the involvement of urinary and male genital systems in COVID-19. The findings include various urinary symptoms, bladder hemorrhage, acute urinary retention, as well as male genital symptoms such as scrotal discomfort, swelling, and pain. Additionally, it reported a significant reduction in sperm quality among patients with moderate COVID-19.
JOURNAL OF MEDICAL VIROLOGY
(2021)
Article
Medicine, Research & Experimental
Adriana Lofrano-Porto, Sidney Alcantara Pereira, Andrew Dauber, Jordana C. B. Bloom, Audrey N. Fontes, Naomi Asimow, Olivia Laquis de Moraes, Petra Ariadne T. Araujo, Ana Paula Abreu, Michael H. Guo, Silviene F. De Oliveira, Han Liu, Charles Lee, Wendy Kuohung, Michella S. Coelho, Rona S. Carroll, Rulang Jiang, Ursula B. Kaiser
Summary: This article investigates three sisters with a unique Mullerian anomaly and identifies a missense variant in the OSR1 gene. The study shows that OSR1 plays an important role in Mullerian duct development and endometrial receptivity in humans and mice.
JOURNAL OF CLINICAL INVESTIGATION
(2023)
Article
Biochemistry & Molecular Biology
Silvia Mezi, Giulia Pomati, Ilaria Grazia Zizzari, Alessandra Di Filippo, Bruna Cerbelli, Alessio Cirillo, Giulia Fiscon, Sasan Amirhassankhani, Valentino Valentini, Marco De Vincentiis, Alessandro Corsi, Cira Di Gioia, Vincenzo Tombolini, Carlo Della Rocca, Antonella Polimeni, Marianna Nuti, Paolo Marchetti, Andrea Botticelli
Summary: This study evaluated the combined role of genomic and immune profiles in PR/HNSCC patients treated with anti-PD-1 nivolumab. The results showed that some patients benefited from the treatment, while others experienced early progression. Furthermore, specific gene mutations and immune features were found to be associated with treatment response.
Article
Infectious Diseases
Fan Wang, Olivie C. Namuju, Katelyn A. Pastick, Kizito Abdusalaamu, Usha Mishra, Lindsey Collins, David R. Boulware, Robert Lukande, David B. Meya, Melanie R. Nicol
Summary: The study found that the penetration of anti-infectives in the female genital tract varies among different tissues, with most FGT tissues favoring tenofovir and lamivudine for preventing local HIV replication and transmission.
JOURNAL OF ANTIMICROBIAL CHEMOTHERAPY
(2022)
Article
Biology
Shaoyi Mei, Yi Wu, Yan Wang, Yubo Cui, Miao Zhang, Tong Zhang, Xiaosheng Huang, Sejie Yu, Tao Yu, Jun Zhao
Summary: Through our study on a Chinese family, we identified a potential variant in the PIKFYVE gene, which is involved in the pathogenesis of congenital cataract. We demonstrated that the loss of PIKFYVE function causes congenital cataract and identified a potential treatment using Baf-A1.
Article
Immunology
Aloysious Ssemaganda, Francois Cholette, Michelle Perner, Cheli Kambaran, Wendy Adhiambo, Peter M. Wambugu, Henok Gebrebrhan, Amy Lee, Faisal Nuhu, Ruth S. Mwatelah, Naima Jahan, Tosin E. Omole, Tabitha Wanjiru, Apollo Gitau, Joshua Kimani, Lyle R. McKinnon
Summary: In a study of women in Nairobi, it was found that the proportion of Tregs in the endocervix correlated with those in blood, with a higher Treg frequency observed in the endocervix. Most Tregs in both compartments expressed FOXP3, and CTLA-4 expression was higher on endocervical Tregs compared to blood. Endocervical Treg proportions were inversely associated with the number of elevated pro-inflammatory cytokines, and higher endocervical Treg proportions were associated with lower abundance of endocervical CD4+ T cells.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Infectious Diseases
Xiaofei Li, Hong Tang, Zhonglan Xu, Haiyan Tang, Zhengyang Fan, Xinan Jiao, Jinlin Huang
Summary: Campylobacter infection is an important cause of genital failure in ruminants in developed countries. This study investigated the distribution of Campylobacter in the genital tracts of humans, monkeys, sheep, and cows in China, and found evidence of inter-transmission between humans and sheep. The genital tract isolates exhibited stronger acid resistance, adhesion, and invasion abilities compared to gastrointestinal tract isolates.
TRANSBOUNDARY AND EMERGING DISEASES
(2022)
Article
Pathology
Thomas Denize, Pierre Alexandre Just, Mathilde Sibony, Helene Blons, Marc Olivier Timsit, Tom Drossart, Deborah Jakubowicz, Chloe Broudin, Aurelien Morini, Thierry Molina, Yann Vano, Marie Auvray-Kuentz, Stephane Richard, Arnaud Mejean, Anne Paule Gimenez Roqueplo, Nelly Burnichon, Virginie Verkarre
Summary: Our study provides additional evidence that biphasic squamoid alveolar papillary RCC is a morphological variant of type 1 papillary renal RCC. Our data strongly suggest that MET represents a major oncogenic driver gene in BSA-PRCC, harboring a higher frequency of MET mutation that encourages further exploration of the benefits of anti-MET targeted therapies for aggressive BSA-PRCC.
Article
Oncology
Antonella Catalano, Mojca Adlesic, Thorsten Kaltenbacher, Rhena F. U. Klar, Joachim Albers, Philipp Seidel, Laura P. Brandt, Tomas Hejhal, Philipp Busenhart, Niklas Roehner, Kyra Zodel, Kornelia Fritsch, Peter J. Wild, Justus Duyster, Ralph Fritsch, Tilman Brummer, Ian J. Frew
Summary: The study demonstrates that the combined use of MEK and ERK inhibitors can prevent the emergence of drug resistance, but may not be effective if cancer cells are resistant to single agents. Drug resistance involves complex rewiring of cellular kinase signaling networks, which are not overlapping between different cancer cell lines. The identification of new drug sensitivities in some resistant cells suggests potential additional therapeutic targets in oncogenic RAS-driven tumors.
Letter
Clinical Neurology
Suzanne Tran, Samiya Abi Jaoude, Stephane Richard, Franck Bielle
CLINICAL NEUROPATHOLOGY
(2021)
Article
Oncology
Lucia Carril-Ajuria, Emeline Colomba, Luigi Cerbone, Carmen Romero-Ferreiro, Laurence Crouzet, Brigitte Laguerre, Constance Thibault, Cecile Vicier, Guillermo de Velasco, Aude Flechon, Carolina Saldana, Patrick R. Benusiglio, Brigitte Bressac-de Paillerets, Marine Guillaud-Bataille, Pauline Gaignard, Jean-Yves Scoazec, Stephane Richard, Olivier Caron, Bernard Escudier, Laurence Albiges
Summary: This study is a retrospective analysis of FHdef RCC patients treated with systemic therapy, showing that antiangiogenics may be superior to ICB/mTOR inhibitors in this population.
EUROPEAN JOURNAL OF CANCER
(2021)
Article
Pathology
Sophie Ferlicot, Pierre-Alexandre Just, Eva Comperat, Etienne Rouleau, Frederique Tissier, Christophe Vaessen, Stephane Richard
Summary: A rare autosomal dominant disease called Hereditary papillary renal cell carcinoma (HPRCC) is characterized by multiple and bilateral papillary type I renal cell carcinomas caused by activated mutations in the MET proto-oncogene. A case study of a 51-year-old man with HPRCC showed not only papillary tumors but also clear cell renal cell carcinomas. Immunohistochemistry and FISH testing revealed potential links between clear cell RCC and papillary RCC in the context of HPRCC syndrome.
DIAGNOSTIC PATHOLOGY
(2021)
Article
Genetics & Heredity
Molka Sebai, David Tulasne, Sandrine M. Caputo, Virginie Verkarre, Marie Fernandes, Celia Guerin, Fanny Reinhart, Severine Adams, Christine Maugard, Olivier Caron, Marine Guillaud-Bataille, Pascaline Berthet, Yves-Jean Bignon, Brigitte Bressac-de Paillerets, Nelly Burnichon, Jean Chiesa, Sophie Giraud, Sophie Lejeune, Jean-Marc Limacher, Antoine de Pauw, Dominique Stoppa-Lyonnet, Helene Zattara-Cannoni, Sophie Deveaux, Rosette Lidereau, Stephane Richard, Etienne Rouleau
Summary: Hereditary papillary renal cell carcinoma is a rare inherited renal cancer syndrome associated with activating germline pathogenic variants of the MET gene. A study on a large French patient series showed a correlation between MET pathogenic variants and characteristic presentation of PRCC1 tumors, highlighting the importance of broadening screening efforts.
Article
Medicine, General & Internal
Eric Jonasch, Frede Donskov, Othon Iliopoulos, W. Kimryn Rathmell, Vivek K. Narayan, Benjamin L. Maughan, Stephane Oudard, Tobias Else, Jodi K. Maranchie, Sarah J. Welsh, Sanjay Thamake, Eric K. Park, Rodolfo F. Perini, W. Marston Linehan, Ramaprasad Srinivasan
Summary: The HIF-2α inhibitor belzutifan showed efficacy in patients with renal cell carcinoma associated with von Hippel-Lindau disease, with nearly half of the patients having an objective response to treatment.
NEW ENGLAND JOURNAL OF MEDICINE
(2021)
Article
Oncology
Florine Adolphe, Sophie Ferlicot, Virginie Verkarre, Katia Posseme, Sophie Couve, Pauline Garnier, Nathalie Droin, Marc Deloger, Bastien Job, Sophie Giraud, Brigitte Bressac-de Paillerets, Betty Gardie, Stephane Richard, Flore Renaud, Sophie Gad
Summary: A frameshift mutation in the NBR1 gene was identified in a family with different histological renal tumors, suggesting NBR1 as a potential predisposing gene for RCC. Functional analysis indicated that the mutation affects autophagy and promotes increased proliferative capacity in renal cell lines. Further investigation is needed to confirm the characterization of NBR1 in renal carcinogenesis.
Article
Oncology
Marie-Charlotte Villy, Nelly Frydman, Celine Moutou, Gaelle Thierry, Jade Raad, Chrystelle Colas, Julie Steffann, Julie Metras, Nathalie Chabbert-Buffet, Yann Parc, Stephane Richard, Patrick R. Benusiglio
Summary: Data on preimplantation genetic testing (PGT-M) in patients with genetic susceptibility to cancer are scarce. A retrospective multicenter study was conducted to collect data on PGT-M outcomes and raise awareness among cancer genetics professionals. The study showed satisfactory PGT-M outcomes in patients with cancer susceptibility syndromes, highlighting the need for systematic counseling and increased awareness of PGT-M among cancer genetics professionals.
Article
Biochemistry & Molecular Biology
Roseline Vibert, Khadija Lahlou-Laforet, Maryam Samadi, Valerie Krivosic, Thomas Blanc, Laurence Amar, Nelly Burnichon, Caroline Abadie, Stephane Richard, Anne-Paule Gimenez-Roqueplo
Summary: VHL disease is a common cancer predisposition syndrome, and adherence to surveillance for VHL pathogenic variant carriers in children is crucial for favorable clinical outcomes. A specific and adapted procedure for predictive genetic testing, followed by specialized follow-up within an expert network, leads to complete adherence to the surveillance protocol and positive medical interventions.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Review
Oncology
Marina Conde, Ian J. Frew
Summary: This review discusses the functions of ARID1A in bladder urothelial carcinoma and highlights its potential as a therapeutic target.
Article
Oncology
Sylvain Bodard, Idris Boudhabhay, Charles Dariane, Christophe Delavaud, Sylvain Guinebert, Dominique Joly, Marc-Olivier Timsit, Arnaud Mejean, Virginie Verkarre, Olivier Helenon, Stephane Richard, Jean-Michel Correas
Summary: Percutaneous thermal ablation (TA) could be a safe and efficient nephron-sparing treatment for renal cell carcinoma (RCCs) associated with Birt-Hogg-Dube (BHD) syndrome. The indications for ablation depend on various factors, and the involvement of a tumor board is crucial. In this study, percutaneous TA was found to be a safe and efficient treatment option for BHD syndrome-related RCCs, even in patients with advanced chronic kidney disease.
Article
Cell Biology
Daniel A. Mohl, Simon Lagies, Kyra Zodel, Matthias Zumkeller, Asin Peighambari, Athina Ganner, Dietmar A. Plattner, Elke Neumann-Haefelin, Mojca Adlesic, Ian J. Frew, Bernd Kammerer
Summary: Clear cell renal cell carcinoma (ccRCC) accounts for 75% of kidney cancers and is primarily caused by biallelic inactivation of the von Hippel-Lindau tumor suppressor gene (VHL). Cancer cells in ccRCC undergo metabolic reprogramming and excrete higher amounts of modified nucleosides, which cannot be recycled. Using a murine ccRCC model, researchers identified potential biomarkers for ccRCC, such as pseudouridine, 5-methylcytidine, and 2'-O-methylcytidine, and specific enzymes responsible for their formation. This study provides promising candidates for validation in clinical trials.
Article
Cell Biology
Athina Ganner, Antonia Philipp, Simon Lagies, Laura Wingendorf, Lu Wang, Felicitas Pilz, Thomas Welte, Kelli Grand, Soeren S. Lienkamp, Marinella Klein, Bernd Kammerer, Ian J. Frew, Gerd Walz, Elke Neumann-Haefelin
Summary: VHL inactivation is associated with the development of ccRCC, and VHL regulates SCD5 and fatty acid metabolism. SCD5 expression is regulated by VHL and HIF, and loss of SCD5 promotes cell proliferation and metabolic shift towards ceramide production.
Article
Genetics & Heredity
Gregory Mougel, Amira Mohamed, Nelly Burnichon, Sophie Giraud, Pascal Pigny, Brigitte Bressac-de Paillerets, Delphine Mirebeau-Prunier, Alexandre Buffet, Frederique Savagner, Pauline Romanet, Yannick Arlot, Betty Gardie, Anne-Paule Gimenez-Roqueplo, Christophe Beroud, Stephane Richard, Anne Barlier
Summary: The von Hippel-Lindau (VHL) disease is a hereditary tumour syndrome caused by germline mutations in the VHL tumour suppressor gene. Accurate classification of VHL variants is important for patient management and genetic counselling. In this study, 164 VHL variants were expertly classified, including missense variants, difficult interpretation variants, and their associated phenotypes. The experts modified the classification of 87 variants, including 30 variants of uncertain significance.
JOURNAL OF MEDICAL GENETICS
(2023)