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JOURNAL ARTICLE
Felipe Andreiuolo, Christina K Ferrone, Sharika Rajan, Arie Perry, Ekin Guney, Elaine Cham, Caterina Giannini, Angus Toland, Nicholas Willard, Andrea Silveira de Souza, Karen Dazelle, Hye-Jung Chung, Omkar Singh, Kyle Conway, Nicholas Coley, Christopher Dampier, Zied Abdullaev, Drew Pratt, Patrick J Cimino, Martha Quezado, Kenneth Aldape
Central nervous system (CNS) embryonal tumors are a heterogeneous group of high-grade malignancies, and the increasing clinical use of methylation profiling and next-generation sequencing has led to the identification of molecularly distinct subtypes. One proposed tumor type, CNS tumor with BRD4::LEUTX fusion, has been described. As only a few CNS tumors with BRD4::LEUTX fusions have been described, we herein characterize a cohort of 9 such cases (4 new, 5 previously published) to further describe their clinicopathologic and molecular features...
March 18, 2024: Acta Neuropathologica Communications
#2
JOURNAL ARTICLE
WenYe Liu, Xi Liu, LingYa Li, ZhiPeng Tai, GuoLiang Li, Jing-Xia Liu
Enhancers of polycomb 1 (EPC1) and 2 (EPC2) are involved in multiple biological processes as components of histone acetyltransferases/deacetylase complexes and transcriptional cofactors, and their dysfunction was associated with developmental defects and diseases. However, it remains unknown how their dysfunction induces hematopoietic stem and progenitor cell (HSPC) defects. Here, we show that depletion of EPC1 / 2 significantly reduced the number of hematopoietic stem and progenitor cells (HSPCs) in the aorta-gonad mesonephros and caudal hematopoietic tissue regions by impairing HSPC proliferation, and consistently downregulated the expression of HSPC genes in K562 cells...
March 15, 2024: IScience
#3
JOURNAL ARTICLE
Oumaima Aboubakr, Alice Métais, Julien Maillard, Lauren Hasty, Enola Brigot, Charlotte Berthaud, Joelle Lacombe, Noémie Pucelle, Jade Raynal, Romain Appay, Pascale Varlet, Arnault Tauziède-Espariat
AIMS: The SOX10 transcription factor is important for the maturation of oligodendrocytes involved in central nervous system (CNS) myelination. Currently, very little information exists about its expression and potential use in CNS tumour diagnoses. The aim of our study was to characterize the expression of SOX10 in a large cohort of CNS tumours and to evaluate its potential use as a biomarker. METHODS: We performed immunohistochemistry (IHC) for SOX10 and OLIG2 in a series of 683 cases of adult- and paediatric-type CNS tumours from different subtypes...
January 22, 2024: Histopathology
#4
JOURNAL ARTICLE
Gang Yan, Meiou Dai, Sophie Poulet, Ni Wang, Julien Boudreault, Girija Daliah, Suhad Ali, Jean-Jacques Lebrun
Triple negative breast cancer (TNBC) is defined as lacking the expressions of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2). TNBC patients exhibit relatively poor clinical outcomes due to lack of molecular markers for targeted therapies. As such chemotherapy often remains the only systemic treatment option for these patients. While chemotherapy can initially help shrink TNBC tumor size, patients eventually develop resistance to drug, leading to tumor recurrence...
November 6, 2023: Oncogenesis
#5
REVIEW
Rajendra Gharbaran
Forkhead box gene R2 (FOXR2) belongs to the family of FOX genes which codes for highly conserved transcription factors (TFs) with critical roles in biological processes ranging from development to organogenesis to metabolic and immune regulation to cellular homeostasis. A number of FOX genes are associated with cancer development and progression and poor prognosis. A growing body of evidence suggests that FOXR2 is an oncogene. Studies suggested important roles for FOXR2 in cancer cell growth, metastasis, and drug resistance...
October 23, 2023: Critical Reviews in Oncology/hematology
#6
JOURNAL ARTICLE
Ping Zhang, Qiong Zhou, Zhiyong Zeng
BACKGROUND: Cervical carcinoma and endometrial carcinoma are the most common gynecologic cancers worldwide. Forkhead-box R2 (FOXR2) plays an important role in the progression of various malignant tumors. However, the effects of FOXR2 on the development of uterine lesions remain unclear. OBJECTIVES: This prospective observational study aimed to investigate the diagnostic performance of FOXR2 and transvaginal three-dimensional power Doppler ultrasonography (3D-PDU) for malignant uterine lesions...
October 13, 2023: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
#7
Computational And Mathematical Methods In Medicine
[This retracts the article DOI: 10.1155/2022/2318170.].
2023: Computational and Mathematical Methods in Medicine
#8
JOURNAL ARTICLE
Mathieu Chicard, Yasmine Iddir, Julien Masliah Planchon, Valérie Combaret, Valéry Attignon, Alexandra Saint-Charles, Didier Frappaz, Cécile Faure-Conter, Kévin Beccaria, Pascale Varlet, Birgit Geoerger, Sylvain Baulande, Gaelle Pierron, Yassine Bouchoucha, François Doz, Olivier Delattre, Joshua J Waterfall, Franck Bourdeaut, Gudrun Schleiermacher
BACKGROUND: Liquid biopsies are revolutionary tools used to detect tumor-specific genetic alterations in body fluids, including the use of cell-free DNA (cfDNA) for molecular diagnosis in cancer patients. In brain tumors, cerebrospinal fluid (CSF) cfDNA might be more informative than plasma cfDNA. Here, we assess the use of CSF cfDNA in pediatric embryonal brain tumors (EBT) for molecular diagnosis. METHODS: The CSF cfDNA of pediatric patients with medulloblastoma ( n = 18), ATRT ( n = 3), ETMR ( n = 1), CNS NB FOXR2 ( n = 2) and pediatric EBT NOS ( n = 1) (mean cfDNA concentration 48 ng/mL; range 4-442 ng/mL) and matched tumor genomic DNA were sequenced by WES and/or a targeted sequencing approach to determine single-nucleotide variations (SNVs) and copy number alterations (CNA)...
July 7, 2023: Cancers
#9
JOURNAL ARTICLE
Elizabeth Schepke, Maja Löfgren, Torsten Pietsch, Teresia Kling, Claes Nordborg, Thomas Olsson Bontell, Stefan Holm, Anders Öberg, Per Nyman, Marie Eliasson-Hofvander, Magnus Sabel, Birgitta Lannering, Helena Carén
BACKGROUND: Molecular analyses have shown that tumours diagnosed as supratentorial primitive neuro-ectodermal tumours of the central nervous system (CNS-PNETs) in the past represent a heterogenous group of rare childhood tumours including high-grade gliomas (HGG), ependymomas, atypical teratoid/rhabdoid tumours (AT/RT), CNS neuroblastoma with forkhead box R2 (FOXR2) activation and embryonal tumour with multi-layered rosettes (ETMR). All these tumour types are rare and long-term clinical follow-up data are sparse...
March 9, 2023: Clinical Epigenetics
#10
REVIEW
Kenichiro Shimazaki, Ryo Kurokawa, Andrea Franson, Mariko Kurokawa, Akira Baba, Laura Bou-Maroun, John Kim, Toshio Moritani
BACKGROUND AND PURPOSE: CNS neuroblastoma, FOXR2-activated (CNS NB-FOXR2) is a newly recognized tumor type in the 2021 World Health Organization classification of central nervous system (CNS) tumors. We aimed to investigate the clinical and neuroimaging findings of CNS NB-FOXR2 and systematically review previous publications and three new cases. METHODS: We searched PubMed, SCOPUS, and Embase databases for patients with pathologically proven CNS NB-FOXR2 with sufficient information for preoperative CT and MRI findings...
February 20, 2023: Journal of Neuroimaging: Official Journal of the American Society of Neuroimaging
#11
JOURNAL ARTICLE
Pooja Srivastava, Megan L Zilla, Rana Naous, Daniel Marker, Pooria Khoshnoodi, Melissa Burgess, Armando Herradura, Jinhua Wu, Lea F Surrey, Ivy John
AIMS: Ossifying fibromyxoid tumor (OFMT) is a rare enigmatic tumor of uncertain differentiation that can be classified as typical, atypical, and malignant subtypes based on cellularity, nuclear grade, and mitotic activity. The majority of OFMTs, regardless of the risk of malignancy, harbor genetic translocations. We report two malignant OFMTs, including one with evidence of dedifferentiation, with novel genefusions. METHODS AND RESULTS: Case 1 was a 63-year-old male with a dedifferentiated OFMT arising in the right wrist, while case 2 was a 41-year-old male with a malignant OFMT presenting as a posterior mediastinal mass...
January 17, 2023: Histopathology
#12
REVIEW
Johannes Gojo, Mimi Kjaersgaard, Barbara V Zezschwitz, David Capper, Anna Tietze, Marcel Kool, Christine Haberler, Barry Pizer, Katja V Hoff
The introduction of molecular methods into the diagnostics of central nervous system (CNS) tumours and the subsequent deciphering of their molecular heterogeneity has resulted in a significant impact on paediatric neurooncology. Particularly in the field of rare embryonal and sarcomatous CNS tumours, novel tumour types have been delineated and introduced in the recent 5th edition of the WHO classification of CNS tumours. The rarity and novelty of these tumour types result in diagnostic and therapeutic challenges...
January 2023: European Journal of Medical Genetics
#13
JOURNAL ARTICLE
Pascale Varlet
No abstract text is available yet for this article.
September 23, 2022: Annales de Pathologie
#14
JOURNAL ARTICLE
A Tietze, K Mankad, M H Lequin, L Ivarsson, D Mirsky, A Jaju, M Kool, K V Hoff, B Bison, U Löbel
BACKGROUND AND PURPOSE: The 5th edition of the World Health Organization Classification of CNS tumors defines the CNS neuroblastoma FOXR2 in the group of embryonal tumors. Published clinical outcomes tend to suggest a favorable outcome after resection, craniospinal irradiation, and chemotherapy. This multicenter study aimed to describe imaging features of CNS neuroblastoma- FOXR2, which have been poorly characterized thus far. MATERIALS AND METHODS: On the basis of a previously published cohort of tumors molecularly classified as CNS neuroblastoma- FOXR2 , patients with available imaging data were identified...
September 22, 2022: AJNR. American Journal of Neuroradiology
#15
JOURNAL ARTICLE
Yue-Xiu Liang, Lian-Ling Zhang, Li Yang
Emerging numbers of endogenous circular RNAs (circRNAs) have gained much attention to serve as essential regulators in the carcinogenesis of human cancers. Unfortunately, the occurrence of paclitaxel (PTX) resistance to ovarian cancer remains to be responsible for the poor prognosis. Herein, the aim of our study is to reveal a dysregulation of a particular circRNA, circANKRD17 (has_circ_0007883), and its exact role involving in chemoresistance of ovarian cancer. Expression patterns of circANKRD17 in PTX-resistant ovarian cancer tissues and cell lines was examined using quantitative real-time PCR analysis...
September 15, 2022: Molecular and Cellular Biochemistry
#16
EDITORIAL
Anthony P Y Liu, Paul A Northcott
FOXR2 encodes a Forkhead-Box transcription factor that has been recently described as a proto-oncogene. In this issue of Cancer Research, Tsai and colleagues present the first pan-cancer study summarizing the prevalence of FOXR2 overexpression beyond rare childhood-onset malignancies. Identification of a previously unknown mechanism of epigenetic activation and the expansion of FOXR2 transcriptional targets enhance the mechanistic understanding of FOXR2-driven malignancy, with the potential to uncover new therapeutic opportunities...
September 2, 2022: Cancer Research
#17
MULTICENTER STUDY
Anthony P Y Liu, Sandeep K Dhanda, Tong Lin, Edgar Sioson, Aksana Vasilyeva, Brian Gudenas, Ruth G Tatevossian, Sujuan Jia, Geoffrey Neale, Daniel C Bowers, Tim Hassall, Sonia Partap, John R Crawford, Murali Chintagumpala, Eric Bouffet, Geoff McCowage, Alberto Broniscer, Ibrahim Qaddoumi, Greg Armstrong, Karen D Wright, Santhosh A Upadhyaya, Anna Vinitsky, Christopher L Tinkle, John Lucas, Jason Chiang, Daniel J Indelicato, Robert Sanders, Paul Klimo, Frederick A Boop, Thomas E Merchant, David W Ellison, Paul A Northcott, Brent A Orr, Xin Zhou, Arzu Onar-Thomas, Amar Gajjar, Giles W Robinson
Methylation profiling has radically transformed our understanding of tumors previously called central nervous system primitive neuro-ectodermal tumors (CNS-PNET). While this marks a momentous step toward defining key differences, reclassification has thrown treatment into disarray. To shed light on response to therapy and guide clinical decision-making, we report outcomes and molecular features of children with CNS-PNETs from two multi-center risk-adapted studies (SJMB03 for patients ≥ 3 years; SJYC07 for patients < 3 years) complemented by a non-protocol institutional cohort...
October 2022: Acta Neuropathologica
#18
REVIEW
Alexandre Vasiljevic
Pineal parenchymal tumors in children are rare. They consist of two main types, pineoblastoma (PB) and pineal parenchymal tumor of intermediate differentiation (PPTID), which are World Health Organization (WHO) grade 4 and grade 2-3 respectively. PBs are divided into four distinct molecular groups: PB-miRNA1, PB-miRNA2, PB-RB1, and PB-MYC/FOXR2. PB-RB1 and PB-MYC/FOXR2 affect young children and are associated with a dismal prognosis. PB-miRNA1 and PB-miRNA2 groups affect older children and follow a more favorable course...
August 16, 2022: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
#19
JOURNAL ARTICLE
Jessica W Tsai, Paloma Cejas, Dayle K Wang, Smruti Patel, David W Wu, Phonepasong Arounleut, Xin Wei, Ningxuan Zhou, Sudeepa Syamala, Frank P B Dubois, Alexander Crane, Kristine Pelton, Jayne Vogelzang, Cecilia Sousa, Audrey Baguette, Xiaolong Chen, Alexandra L Condurat, Sarah E Dixon-Clarke, Kevin N Zhou, Sophie D Lu, Elizabeth M Gonzalez, Madison S Chacon, Jeromy J Digiacomo, Rushil Kumbhani, Dana Novikov, J'Ya Hunter, Maria Tsoli, David S Ziegler, Uta Dirksen, Natalie Jager, Gnana Prakash Balasubramanian, Christof M Kramm, Michaela Nathrath, Stefan Bielack, Suzanne J Baker, Jinghui Zhang, James M McFarland, Gad Getz, François Aguet, Nada Jabado, Olaf Witt, Stefan M Pfister, Keith L Ligon, Volker Hovestadt, Claudia L Kleinman, Henry Long, David T W Jones, Pratiti Bandopadhayay, Timothy N Phoenix
Forkhead box R2 (FOXR2) is a forkhead transcription factor located on the X chromosome whose expression is normally restricted to the testis. In this study, we performed a pan-cancer analysis of FOXR2 activation across more than 10,000 adult and pediatric cancer samples and found FOXR2 to be aberrantly upregulated in 70% of all cancer types and 8% of all individual tumors. The majority of tumors (78%) aberrantly expressed FOXR2 through a previously undescribed epigenetic mechanism that involves hypomethylation of a novel promoter, which was functionally validated as necessary for FOXR2 expression and proliferation in FOXR2-expressing cancer cells...
September 2, 2022: Cancer Research
#20
JOURNAL ARTICLE
Ming Liu, Jingwei Peng
Purpose: The present study was aimed at exploring the role of FTX in cisplatin (DDP) resistance in ovarian cancer (OC). Methods: QPCR was applied to evaluate mRNA expression in OC tissue and cells. CCK-8 assay was conducted to evaluate cell proliferation. Transwell chamber assay was performed to evaluate invasion of SKOV3/DDP cells. The protein expression was evaluated via western blot assay. Flow cytometry was performed to evaluate the apoptosis of SKOV3/DDP cells...
2022: Computational and Mathematical Methods in Medicine
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