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140 results on '"Looijenga, Leendert H.J."'

102. A Rare Case of Embryonal Carcinoma in a Patient with Turner Syndrome without Y Chromosomal Material but Mutations in <bold><italic>KIT</italic></bold>, <bold><italic>AKT1</italic></bold>, and <bold><italic>ZNF358</italic></bold> Demonstrated Using Exome Sequencing

Author

Gravholt, Claus H., Dollerup, Ole L., Duval, Lone, Mejlgaard, Else, Stribolt, Katrine, Vang, Søren, Laursen, Britt E., Knudsen, Michael, Thorsen, Kasper, Hersmus, Remko, Looijenga, Leendert H.J., and Stochholm, Kirstine

Subjects
TURNER'S syndrome, KARYOTYPES, EMBRYONAL tumors, GENETIC mutation, METASTASIS, PATIENTS
Abstract

Gonadoblastoma and malignant transformations thereof can occur in females with Turner syndrome (TS) and Y chromosomal material. However, in females with TS and no Y chromosomal material, this is rarely seen. We report a female with an apparent 45,X karyotype (in blood and tumor) who was diagnosed with a metastatic embryonal carcinoma. Exome sequencing of blood and the tumor was done, and no Y chromosomal material was detected, while predicted deleterious mutations in KIT (likely driver), AKT1, and ZNF358 were identified in the tumor. The patient was treated with chemotherapy (first-line: cisplatin, etoposide, and bleomycin; second-line: paclitaxel and gemcitabine), and after that surgical debulking was performed. She is currently well and without signs of relapse. We conclude that embryonal carcinoma can apparently occur in 45,X TS without signs of Y chromosomal material. [ABSTRACT FROM AUTHOR]

Published
2017
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104. NR5A1is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development

Author

Baetens, Dorien, Stoop, Hans, Peelman, Frank, Todeschini, Anne-Laure, Rosseel, Toon, Coppieters, Frauke, Veitia, Reiner A., Looijenga, Leendert H.J., De Baere, Elfride, and Cools, Martine

Abstract

We aimed to identify the genetic cause in a cohort of 11 unrelated cases and two sisters with 46,XX SRY-negative (ovo)testicular disorders of sex development (DSD).

Published
2017
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105. A genome-wide RNAi screen in mouse embryonic stem cells identifies Mp1 as a key mediator of differentiation

Author

Westerman, Bart A., primary, Braat, A. Koen, additional, Taub, Nicole, additional, Potman, Marko, additional, Vissers, Joseph H.A., additional, Blom, Marleen, additional, Verhoeven, Els, additional, Stoop, Hans, additional, Gillis, Ad, additional, Velds, Arno, additional, Nijkamp, Wouter, additional, Beijersbergen, Roderick, additional, Huber, Lukas A., additional, Looijenga, Leendert H.J., additional, and van Lohuizen, Maarten, additional

Published
2011
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112. Microsatellite Instability, Mismatch Repair Deficiency, and BRAF Mutation in Treatment-Resistant Germ Cell Tumors

Author

Honecker, Friedemann, primary, Wermann, Hendrik, additional, Mayer, Frank, additional, Gillis, Ad J.M., additional, Stoop, Hans, additional, van Gurp, Ruud J.L.M., additional, Oechsle, Karin, additional, Steyerberg, Ewout, additional, Hartmann, Jörg Th., additional, Dinjens, Winand N.M., additional, Oosterhuis, J. Wolter, additional, Bokemeyer, Carsten, additional, and Looijenga, Leendert H.J., additional

Published
2009
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114. Molecular markers predict outcome in squamous cell carcinoma of the head and neck after concomitant cisplatin-based chemoradiation

Author

van den Broek, Guido B., primary, Wildeman, Maarten, additional, Rasch, Coen R.N., additional, Armstrong, Nicola, additional, Schuuring, Ed, additional, Begg, Adrian C., additional, Looijenga, Leendert H.J., additional, Scheper, Rik, additional, van der Wal, Jacqueline E., additional, Menkema, Lorian, additional, van Diest, Paul J., additional, Balm, Alfons J.M., additional, van Velthuysen, Marie-Louise F., additional, and van den Brekel, Michiel W.M., additional

Published
2009
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120. Genomic and Expression Profiling of Human Spermatocytic Seminomas: Primary Spermatocyte as Tumorigenic Precursor and DMRT1 as Candidate Chromosome 9 Gene

Author

Looijenga, Leendert H.J., primary, Hersmus, Remko, additional, Gillis, Ad J.M., additional, Pfundt, Rolph, additional, Stoop, Hans J., additional, van Gurp, Ruud J.H.L.M., additional, Veltman, Joris, additional, Beverloo, H. Berna, additional, van Drunen, Ellen, additional, Geurts van Kessel, Ad, additional, Reijo Pera, Renee, additional, Schneider, Dominik T., additional, Summersgill, Brenda, additional, Shipley, Janet, additional, McIntyre, Alan, additional, van der Spek, Peter, additional, Schoenmakers, Eric, additional, and Oosterhuis, J. Wolter, additional

Published
2006
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122. Amplification and Overexpression of the KIT Gene Is Associated with Progression in the Seminoma Subtype of Testicular Germ Cell Tumors of Adolescents and Adults

Author

McIntyre, Alan, primary, Summersgill, Brenda, additional, Grygalewicz, Beata, additional, Gillis, Ad J.M., additional, Stoop, J., additional, van Gurp, Ruud J.H.L.M., additional, Dennis, Nening, additional, Fisher, Cyril, additional, Huddart, Robert, additional, Cooper, Colin, additional, Clark, Jeremy, additional, Oosterhuis, J. Wolter, additional, Looijenga, Leendert H.J., additional, and Shipley, Janet, additional

Published
2005
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123. Somatic Mutations of the Protein Kinase Gene Family in Human Lung Cancer

Author

Davies, Helen, primary, Hunter, Chris, additional, Smith, Raffaella, additional, Stephens, Philip, additional, Greenman, Chris, additional, Bignell, Graham, additional, Teague, Jon, additional, Butler, Adam, additional, Edkins, Sarah, additional, Stevens, Claire, additional, Parker, Adrian, additional, O'Meara, Sarah, additional, Avis, Tim, additional, Barthorpe, Syd, additional, Brackenbury, Lisa, additional, Buck, Gemma, additional, Clements, Jody, additional, Cole, Jennifer, additional, Dicks, Ed, additional, Edwards, Ken, additional, Forbes, Simon, additional, Gorton, Matthew, additional, Gray, Kristian, additional, Halliday, Kelly, additional, Harrison, Rachel, additional, Hills, Katy, additional, Hinton, Jonathon, additional, Jones, David, additional, Kosmidou, Vivienne, additional, Laman, Ross, additional, Lugg, Richard, additional, Menzies, Andrew, additional, Perry, Janet, additional, Petty, Robert, additional, Raine, Keiran, additional, Shepherd, Rebecca, additional, Small, Alexandra, additional, Solomon, Helen, additional, Stephens, Yvonne, additional, Tofts, Calli, additional, Varian, Jennifer, additional, Webb, Anthony, additional, West, Sofie, additional, Widaa, Sara, additional, Yates, Andrew, additional, Brasseur, Francis, additional, Cooper, Colin S., additional, Flanagan, Adrienne M., additional, Green, Anthony, additional, Knowles, Maggie, additional, Leung, Suet Y., additional, Looijenga, Leendert H.J., additional, Malkowicz, Bruce, additional, Pierotti, Marco A., additional, Teh, Bin T., additional, Yuen, Siu T., additional, Lakhani, Sunil R., additional, Easton, Douglas F., additional, Weber, Barbara L., additional, Goldstraw, Peter, additional, Nicholson, Andrew G., additional, Wooster, Richard, additional, Stratton, Michael R., additional, and Futreal, P. Andrew, additional

Published
2005
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124. p53 and MDM2 in Germ Cell Cancer Treatment Response

Author

Oliver, R.T.D., primary, Shamash, J., additional, Berney, D.M., additional, Mayer, Frank, additional, Kersemaekers, Anne-Marie, additional, Oosterhuis, J. Wolter, additional, Bokemeyer, Carsten, additional, and Looijenga, Leendert H.J., additional

Published
2002
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125. Carcinoma in situ in the Testis

Author

Rørth, Mikael, primary, Meyts, Ewa Rajpert-De, additional, Andersson, Lennart, additional, Dieckmann, Klaus-Peter, additional, Fosså, Sophie D., additional, Grigor, Kenneth M., additional, Hendry, William F., additional, Herr, Harry W., additional, Looijenga, Leendert H.J., additional, Wolter Oosterhuis, J., additional, and Skakkebaek, Niels E., additional

Published
2000
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132. Molecular characterization of hiwi, a human member of the piwi gene family whose overexpression is correlated to seminomas.

Author

Dan Qiao, Zeeman, Anne-Marie, Wei Deng, Looijenga, Leendert H.J., and Haifan Lin

Subjects
HUMAN genetics, HUMAN genome, TESTIS
Abstract

Presents a study that discussed the molecular characterization of hiwi, a human member of the piwi gene family whose overexpression is correlated to seminomas. Condition in which the piwi family genes are highly conserved; Manner in which hiwi is expressed in normal human testes; Genomic localization of the hiwi gene; Chromosomal mapping of hiwi.

Published
2002
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133. A genome-wide RNAi screen in mouse embryonic stem cells identifies Mp1 as a key mediator of differentiation

Author

Westerman, Bart A., Braat, A. Koen, Taub, Nicole, Potman, Marko, Vissers, Joseph H.A., Blom, Marleen, Verhoeven, Els, Stoop, Hans, Gillis, Ad, Velds, Arno, Nijkamp, Wouter, Beijersbergen, Roderick, Huber, Lukas A., Looijenga, Leendert H.J., and van Lohuizen, Maarten

Abstract

Despite intense investigation of intrinsic and extrinsic factors that regulate pluripotency, the process of initial fate commitment of embryonic stem (ES) cells is still poorly understood. We used a genome-wide short hairpin RNA screen in mouse ES cells to identify genes that are essential for initiation of differentiation. Knockdown of the scaffolding protein Mek binding protein 1 (Mp1, also known as Lamtor3 or Map2k1ip1) stimulated self-renewal of ES cells, blocked differentiation, and promoted proliferation. Fibroblast growth factor 4 (FGF4) signaling is required for initial fate commitment of ES cells. Knockdown of Mp1 inhibited FGF4-induced differentiation but did not alter FGF4-driven proliferation. This uncoupling of differentiation and proliferation was also observed when oncogenic Ras isoforms were overexpressed in ES cells. Knockdown of Mp1 redirected FGF4 signaling from differentiation toward pluripotency and up-regulated the pluripotency-related genes Esrrb, Rex1, Tcl1, and Sox2. We also found that human germ cell tumors (GCTs) express low amounts of Mp1 in the invasive embryonic carcinoma and seminoma histologies and higher amounts of Mp1 in the noninvasive carcinoma in situ precursor and differentiated components. Knockdown of Mp1 in invasive GCT cells resulted in resistance to differentiation, thereby showing a functional role for Mp1 both in normal differentiation of ES cells and in germ cell cancer.

Published
2011
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135. Circulating MicroRNAs, the Next-Generation Serum Biomarkers in Testicular Germ Cell Tumours: A Systematic Review.

Author

Leão, Ricardo, Albersen, Maarten, Looijenga, Leendert H.J., Tandstad, Torgrim, Kollmannsberger, Christian, Murray, Matthew J., Culine, Stephane, Coleman, Nicholas, Belge, Gazanfer, Hamilton, Robert J., and Dieckmann, Klaus-Peter

Subjects
*GERM cells, *TESTICULAR cancer, *RECEIVER operating characteristic curves, *MICRORNA, *SENSITIVITY & specificity (Statistics), *TUMOR classification
Abstract

Clinical management of testicular germ cell tumours (GCTs) is hampered by low sensitivity and specificity of the biomarkers currently in use. Circulating microRNAs (miRs) might offer the potential to address areas of unmet clinical need. To systematically evaluate the evidence for clinical applications of serum levels of miR302/367 and miR371-3 in adult testicular GCTs in terms of primary diagnosis, various clinical scenarios, and the costs of clinical implementation. We performed a critical review of PubMed/Medline, Embase and the Cochrane Library in January 2021 in accordance with Preferred Reporting Items for Systematic Review and Meta-analysis (PRISMA) statement. Thirty-one manuscripts addressed miR performance and potential clinical use in testicular GCT. Of these, 23 evaluated the utility in primary diagnosis, seven in early-stage disease, and 13 in metastatic disease, and two addressed the costs of clinical implementation. Of the various miRs studied, miR-371a-3p appears the most useful and potentially the only one that needs to be assayed, with an area under the receiver operating characteristic curve >0.90, sensitivity of 89–96%, and specificity of >90% for both seminoma and nonseminoma, surpassing the classic serum tumour markers. The miRs studied to date are not elevated in cases with teratoma only. Levels of miR-371a-3p correlate with primary tumour mass, clinical stage, and International Germ Cell Cancer Collaborative Group risk groups. Serial measurements mirror treatment efficacy in all clinical stages. Circulating miRNA levels, particularly of miR-371a-3p, have potential for incorporation in clinical practice and may aid in clinical decision-making in various clinical scenarios in GCT. We analysed the current evidence on the usefulness of blood levels of molecules called microRNAs in the management of testicular tumours. The microRNA-371a-3p molecule has better sensitivity and specificity than the markers currently being measured. This new biomarker may soon have a place in clinical practice. miR-371a-3p is a promising novel tool for testicular germ cell tumours. Although this miRNA has not been incorporated in clinical practice, it conceivably has important applications in disease diagnosis and staging, treatment monitoring, and predicting residual masses after chemotherapy. [ABSTRACT FROM AUTHOR]

Published
2021
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137. The biology of germ cell tumors in disorders of sex development.

Author

Hersmus, Remko, Bever, Yolande, Wolffenbuttel, Katja P., Biermann, Katharina, Cools, Martine, and Looijenga, Leendert H.J.

Subjects
*GERM cell tumors, *SEX differentiation disorders, *EPIGENETICS, *FETAL development, *SINGLE nucleotide polymorphisms
Abstract

Development of a malignant germ cell tumor, i.e., germ cell cancer ( GCC) in individuals with disorders of sex development ( DSD) depends on a number of (epi-)genetic factors related to early gonadal- and germ cell development, possibly related to genetic susceptibility. Fetal development of germ cells is orchestrated by strict processes involving specification, migration and the development of a proper gonadal niche. In this review we will discuss the early (epi-)genetic events in normal and aberrant germ cell and gonadal development. Focus will be on the formation of the precursor lesions of GCC in individuals who have DSD. In our view, expression of the different embryonic markers in, and epigenetic profile of the precursor lesions reflects the developmental stage in which these cells are blocked in their maturation. Therefore, these are not a primary pathogenetic driving force. Progression later in life towards a full blown cancer likely depends on additional factors such as a changed endocrine environment in a susceptible individual. Genetic susceptibility is, as evidenced by the presence of specific risk genetic variants ( SNPs) in patients with a testicular GCC, related to genes involved in early germ cell and gonadal development. [ABSTRACT FROM AUTHOR]

Published
2017
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139. Proteome analysis of the effects of all-trans retinoic acid on human germ cell tumor cell lines.

Author

Honecker, Friedemann, Rohlfing, Tina, Harder, Sönke, Braig, Melanie, Gillis, Ad J.M., Glaesener, Stephanie, Barett, Christine, Bokemeyer, Carsten, Buck, Friedrich, Brümmendorf, Tim H., Looijenga, Leendert H.J., and Balabanov, Stefan

Subjects
*TRETINOIN, *GERM cell tumors, *PROTEIN analysis, *CANCER cell proliferation, *CELL lines, *MASS spectrometry, *GENETIC regulation
Abstract

Abstract: We analysed the effects of all-trans retinoic acid (ATRA) on proliferation and changes in the global proteome of the nullipotent human embryonal carcinoma cell line 2102Ep and the pluripotent cell line NTERA2 cl.D1 (NT2). Differentially expressed proteins were assessed by 2D-PAGE and mass spectrometry, followed by verification and analysis of protein modifications of proteins of the retinoid pathway. We established a proteome map of the germ cell tumor (GCT) cell line NT2 showing neuronal differentiation under ATRA treatment for 7days. Using bioinformatic analyses, we identified functional groups of altered proteins and potentially involved pathways, of which changes to the organization of the cytoskeleton and anti-apoptotic effects were the most prominent. Changes observed in the expression of factors involved in the retinoid pathway under ATRA, namely an upregulation of CRBP and CRABP2, were also reflected in GCT tissues of different histologies, providing further insight into factors involved in the differentiation of these pluripotent tumors. Biological significance: Treatment of NT2 germ cell tumor cells with all-trans retinoic acid (ATRA) is a model to investigate differentiation. We analysed differentially expressed proteins by 2D-PAGE and mass spectrometry and provide a proteome map of NT2 cells under 7days of ATRA. By bioinformatic analyses, functional groups of proteins and involved pathways like changes to the cytoskeleton and anti-apoptotic effects were identified. Factors involved in the retinoid pathway, in particular upregulation of CRBP, CRABP1 and CRABP2, also showed differential expression in tumors with different histological subtypes, which provides insight into gene regulation under induced and spontaneous differentiation in germ cell tumors. [Copyright &y& Elsevier]

Published
2014
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140. Meiotic arrest occurs most frequently at metaphase and is often incomplete in azoospermic men.

Author

Enguita-Marruedo, Andrea, Sleddens-Linkels, Esther, Ooms, Marja, de Geus, Vera, Wilke, Martina, Blom, Eric, Dohle, Gert R., Looijenga, Leendert H.J., van Cappellen, Wiggert, Baart, Esther B., and Baarends, Willy M.

Subjects
*DOUBLE-strand DNA breaks, *ACADEMIC medical centers, *MALE infertility
Abstract

Objective: To establish which meiotic checkpoints are activated in males with severe spermatogenic impairment to improve phenotypic characterization of meiotic defects.Design: Retrospective observational study.Setting: University medical center research laboratory and andrology clinic.Patient(s): Forty-eight patients with confirmed spermatogenic impairment (Johnsen scores 3-6) and 15 controls (Johnsen score 10).Intervention(s): None.Main Outcome Measure(s): Quantitative assessment of immunofluorescent analyses of specific markers to determine meiotic entry, chromosome pairing, progression of DNA double-strand break repair, crossover formation, formation of meiotic metaphases, metaphase arrest, and spermatid formation, resulting in a novel classification of human meiotic arrest types.Result(s): Complete metaphase arrest was observed most frequently (27%), and the patients with the highest frequency of apoptotic metaphases also displayed a reduction in crossover number. Incomplete metaphase arrest was observed in 17% of the patients. Only four patients (8%) displayed a failure to complete meiotic chromosome pairing leading to pachytene arrest. Two new types of meiotic arrest were defined: premetaphase and postmetaphase arrest (15% and 13%, respectively).Conclusion(s): Meiotic arrest in men occurs most frequently at meiotic metaphase. This arrest can be incomplete, resulting in low numbers of spermatids, and often occurs in association with reduced crossover frequency. The phenotyping approach described here provides mechanistic insights to help identify candidate infertility genes and to assess genotype-phenotype correlations in individual cases. [ABSTRACT FROM AUTHOR]

Published
2019
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