Research Topics
Species | L H J LooijengaSummaryAffiliation: Erasmus MC Country: The Netherlands Publications
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Publications
SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotypeRemko Hersmus
Department of Pathology, Erasmus MC, University Medical Center Rotterdam, Josephine Nefkens Institute, Daniel den Hoed Cancer Center, Rotterdam, The Netherlands
BMC Med Genet 13:108. 2012..abstract:..
A SRY-HMG box frame shift mutation inherited from a mosaic father with a mild form of testicular dysgenesis syndrome in Turner syndrome patientMohammad Shahid
College of Dentistry, Alkharj University, Alkharj, Kingdom of Saudi Arabia
BMC Med Genet 11:131. 2010..The majority of mutations within the SRY gene are de novo affecting only a single individual in the family. The mutations within the high-mobility group (HMG) region have the potential to affect its DNA binding activity...
Expression of BLIMP1/PRMT5 and concurrent histone H2A/H4 arginine 3 dimethylation in fetal germ cells, CIS/IGCNU and germ cell tumorsDawid Eckert
Department of Developmental Pathology, Institute of Pathology, University of Bonn, Germany
BMC Dev Biol 8:106. 2008..This imposes epigenetic modifications leading to transcriptional repression in mouse PGCs enabling them to escape the somatic differentiation program during migration, while expressing markers of pluripotency...
Genomic and expression profiling of human spermatocytic seminomas: pathogenetic implicationsLeendert H J Looijenga
Department of Pathology, Erasmus MC University Medical Center Rotterdam, Daniel den Hoed Cancer Center, Josephine Nefkens Institute, Rotterdam, The Netherlands
Int J Androl 30:328-35; discussion 335-6. 2007..The canine seminomas are currently considered as the most informative model for human spermatocytic seminomas...
Clinical value of the X chromosome in testicular germ-cell tumoursLeendert H J Looijenga
Department of Pathology, Laboratory for Experimental Patho-Oncology, Erasmus MC-Erasmus University Medical Center Rotterdam-Daniel den Hoed Cancer Center, 3000 DR, Rotterdam, Netherlands
Lancet 363:6-8. 2004
Stem cell factor receptor (c-KIT) codon 816 mutations predict development of bilateral testicular germ-cell tumorsLeendert H J Looijenga
Pathology Laboratory for Experimental Patho Oncology, Erasmus MC, University Medical Center Rotterdam, den Hoed Cancer Center, Nefkens Institute, Building Be, Room 430b, Dr Molewaterplein 50, 3015 GE Rotterdam, The Netherlands
Cancer Res 63:7674-8. 2003..These patients may undergo tailored treatment to prevent the development of bilateral disease, with retention of testicular hormonal function...
Human testicular (non)seminomatous germ cell tumours: the clinical implications of recent pathobiological insightsLeendert H J Looijenga
Department of Pathology, Erasmus MC Erasmus University Medical Center, Daniel den Hoed Cancer Center, Josephine Nefkens Institute, Rotterdam, The Netherlands
J Pathol 218:146-62. 2009..The availability of representative cell lines, both for seminoma and for embryonal carcinoma, allows mechanistic studies into the initiation and progression of this disease...
Genomic and expression profiling of human spermatocytic seminomas: primary spermatocyte as tumorigenic precursor and DMRT1 as candidate chromosome 9 geneLeendert H J Looijenga
Department of Pathology, Josephine Nefkens Institute, Erasmus Medical Center University Medical Center, Rotterdam, The Netherlands
Cancer Res 66:290-302. 2006....
Chromosomes and expression in human testicular germ-cell tumors: insight into their cell of origin and pathogenesisLeendert H J Looijenga
Department of Pathology, Josephine Nefkens Institute, Erasmus MC University Medical Center Rotterdam, Daniel den Hoed Cancer Center, Rotterdam, The Netherlands
Ann N Y Acad Sci 1120:187-214. 2007..The conclusion is that TGCTs are embryonic cancers found in adults...
Spermatocytic seminoma: toward further understanding of pathogenesisLeendert Hj Looijenga
Department of Pathology, Erasmus MC University Medical Centre Rotterdam, The Netherlands
J Pathol 224:431-3. 2011..However, this does not exclude an earlier cell of origin, possibly explaining the unique properties of this type of human germ cell tumour, with various counterparts in animals...
POU5F1 (OCT3/4) identifies cells with pluripotent potential in human germ cell tumorsLeendert H J Looijenga
Pathology Lab for Exp Patho Oncology, Josephine Nefkens Institute, Rotterdam, The Netherlands
Cancer Res 63:2244-50. 2003..Therefore, POU5F1 immunohistochemistry is an informative diagnostic tool for pluripotent GCT and offers new insights into the histological heterogeneity of this cancer...
Dissecting the molecular pathways of (testicular) germ cell tumour pathogenesis; from initiation to treatment-resistanceL H J Looijenga
Department of Pathology, Erasmus MC University Medical Center Rotterdam, Josephine Nefkens Institute, Daniel den Hoed Cancer Center, Rotterdam, The Netherlands
Int J Androl 34:e234-51. 2011..Further understanding will allow development of more targeted treatment, which will benefit quality of life of these young cancer patients...
[Advances in basic research on testicular germ cell tumors : clinical implications]L H J Looijenga
Department of Pathology, Erasmus MC Erasmus University Medical Center, Josephine Nefkens Institute, 2040, NL 3000, CA Rotterdam, Niederlande
Urologe A 48:350-8. 2009..Micro-satellite instability as well as BRAF mutations have been identified to be related to treatment resistance, possibly leading to improved clinical management...
Relevance of microRNAs in normal and malignant development, including human testicular germ cell tumoursL H J Looijenga
Department of Pathology, Erasmus MC University Medical Center Rotterdam, Daniel den Hoed Cancer Center, Josephine Nefkens Institute, Rotterdam, The Netherlands
Int J Androl 30:304-14; discussion 314-5. 2007..Specific sets of differentiating miRNA were found to characterize the various differentiation lineages within the GCTs, which simulate normal embryonic development...
Gonadal tumours and DSDLeendert H J Looijenga
Department of Pathology, Erasmus MC University Medical Center Rotterdam, Josephine Nefkens Institute, Daniel den Hoed Cancer Center, Rotterdam, The Netherlands
Best Pract Res Clin Endocrinol Metab 24:291-310. 2010....
Tumor risk in disorders of sex development (DSD)Leendert H J Looijenga
Department of Pathology, Erasmus MC University Medical Center Rotterdam, Daniel den Hoed Cancer Center, Josephine Nefkens Institute, Building Be, Room 430b, Dr Molewaterplein 50, 3015 GE Rotterdam, The Netherlands
Best Pract Res Clin Endocrinol Metab 21:480-95. 2007....
Differential expression of SOX17 and SOX2 in germ cells and stem cells has biological and clinical implicationsJ De Jong
Department of Pathology, Erasmus MC University Medical Center Rotterdam, Josephine Nefkens Institute, Daniel den Hoed Cancer Center, Rotterdam, The Netherlands
J Pathol 215:21-30. 2008..It allows the identification of seminoma-like cells from embryonal carcinoma based on a positive marker and might be the explanation for the different function of POU5F1 in normal and malignant germ cells versus embryonic stem cells...
Expression and interdependencies of pluripotency factors LIN28, OCT3/4, NANOG and SOX2 in human testicular germ cells and tumours of the testisA J M Gillis
Department of Pathology, Erasmus MC University Medical Center Rotterdam, Josephine Nefkens Institute, Daniel den Hoed Cancer Center, Rotterdam, The Netherlands
Int J Androl 34:e160-74. 2011..In conclusion, LIN28 regulates the differentiation status of seminoma and embryonal carcinoma and is likely to play a related role in normal human germ-cell development...
FOXL2 and SOX9 as parameters of female and male gonadal differentiation in patients with various forms of disorders of sex development (DSD)R Hersmus
Department of Pathology, Erasmus MC University Medical Center Rotterdam, Josephine Nefkens Institute, Daniel den Hoed Cancer Center, Rotterdam, The Netherlands
J Pathol 215:31-8. 2008..In addition, it initiates a novel way to study the role of the supportive cells in the development of either CIS or GB...
Stem cell factor as a novel diagnostic marker for early malignant germ cellsH Stoop
Department of Pathology, Erasmus MC Erasmus University Medical Center, Daniel den Hoed Cancer Center, Josephine Nefkens Institute, Rotterdam, The Netherlands
J Pathol 216:43-54. 2008..SCF immunohistochemistry can be a valuable diagnostic tool, in addition to OCT3/4, to screen for precursor lesions of TGCTs, especially in patients with germ cell maturation delay...
Evaluation of testicular biopsies for carcinoma in situ: immunohistochemistry is mandatoryN J van Casteren
Department of Pathology, Erasmus MC University Medical Center Rotterdam, Josephine Nefkens Institute, Daniel den Hoed Cancer Center, Rotterdam, The Netherlands
Int J Androl 32:666-74. 2009..Application of this protocol will allow early diagnosis, and therefore prevent any adverse anti-cancer treatment sequelae including gonadectomy, and requiring life long androgen supplementation in some patients...
High-throughput microRNAome analysis in human germ cell tumoursA J M Gillis
Department of Pathology, Josephine Nefkens Institute, Erasmus MC University Medical Center Rotterdam, Daniel den Hoed, Rotterdam, The Netherlands
J Pathol 213:319-28. 2007..Moreover, differentiated non-seminomas showed overexpression of discriminating miRNAs. These results support the model that miRNAs are involved in regulating differentiation of stem cells, retained in GCTs...
Identification of germ cells at risk for neoplastic transformation in gonadoblastoma: an immunohistochemical study for OCT3/4 and TSPYAnne Marie F Kersemaekers
Department of Pathology, Josephine Nefkens Institute, Daniel de Hoed Cancer Center, Erasmus MC University Medical Center Rotterdam, The Netherlands
Hum Pathol 36:512-21. 2005..This could allow better prediction of the risk of progression to a GCT. In addition, the data support the model that GB represents the earliest accessible developmental stage of malignant GCTs...
Bilateral testicular microlithiasis predicts the presence of the precursor of testicular germ cell tumors in subfertile menC A De Gouveia Brazao
Department of Andrology, and Laboratory for Experimental Pathology, Josephine Nefkens Institute, Erasmus Medical Center University Medical Center Rotterdam, The Netherlands
J Urol 171:158-60. 2004..We determined the predictive value of unilateral and bilateral testicular microlithiasis for CIS in subfertile men, a known risk population for TGCTs (approximately 1%)...
Testicular microlithiasis and carcinoma in situ overview and proposed clinical guidelineN J van Casteren
Department of Urology, Erasmus MC, Rotterdam, The Netherlands
Int J Androl 32:279-87. 2009..A long-term active follow-up schedule, including ultrasonography and physical examinations, is not indicated in the remaining patients with TM...
Differential methylation of the OCT3/4 upstream region in primary human testicular germ cell tumorsJeroen de Jong
Department of Pathology, Erasmus MC University Medical Center Rotterdam, Josephine Nefkens Institute, Daniel den Hoed Cancer Center, 3000 CA Rotterdam, The Netherlands
Oncol Rep 18:127-32. 2007..Moreover, the findings argue against OCT3/4 being a driving oncogenic factor in the pathogenesis of human germ cell tumors...
The predictive value of testicular ultrasound abnormalities for carcinoma in situ of the testis in men at risk for testicular cancerJ E Elzinga-Tinke
Andrology Unit, Department of Urology, Erasmus MC University Medical Centre Rotterdam, Josephine Nefkens Institute, Rotterdam, The Netherlands
Int J Androl 33:597-603. 2010..However, the predictive value of an inhomogeneous testicular parenchyma, besides TM, for CIS is much higher...
Involvement of E-cadherin and beta-catenin in germ cell tumours and in normal male fetal germ cell developmentFriedemann Honecker
Department of Pathology, Josephine Nefkens Institute, Rotterdam, The Netherlands
J Pathol 204:167-74. 2004....
A novel AMH missense mutation in a patient with persistent Müllerian duct syndromeY G van der Zwan
Department of Pediatric Endocrinology, Sophia Children s Hospital, Rotterdam, The Netherlands
Sex Dev 6:279-83. 2012..Biopsy of both gonads revealed that germ cells were present in an irregular distribution. However, the absence of OCT3/4, PLAP and c-KIT expression indicated physiological maturation...
A pathologist's view on the testis biopsyJ W Oosterhuis
Department of Pathology, Josephine Nefkens Institute, Erasmus University Medical Centre, Rotterdam, The Netherlands
Int J Androl 34:e14-9; discussion e20. 2011..Preliminary results are presented on a series of biopsies from cryptorchid testes in infants and children allowing the definition of morphological and immunohistochemical criteria for delayed maturation of gonocytes and pre-CIS...
Aneuploidy of human testicular germ cell tumors is associated with amplification of centrosomesFrank Mayer
Pathology/Laboratory for Experimental Patho-Oncology, Josephine Nefkens Institute, Erasmus Medical Center/Daniel den Hoed Cancer Center, 3000 DR Rotterdam, The Netherlands
Oncogene 22:3859-66. 2003..Therefore, aneuploidy of testicular germ cell tumors is associated with amplified centrosomes probably unrelated to STK15...
Pathobiological implications of the expression of markers of testicular carcinoma in situ by fetal germ cellsFriedemann Honecker
Department of Pathology, Josephine Nefkens Institute, Erasmus MC-University Medical Center Rotterdam, Daniel den Hoed Cancer Center, Rotterdam, The Netherlands
J Pathol 203:849-57. 2004..These findings are compatible with the hypothesis that CIS/ITGCNU arises from developmentally arrested germ cells, most likely primordial germ cells/gonocytes, at an early time point during intrauterine development...
Global DNA methylation in fetal human germ cells and germ cell tumours: association with differentiation and cisplatin resistanceHendrik Wermann
Department of Pathology, Erasmus MC Erasmus University Medical Center, Daniel den Hoed Cancer Center, Josephine Nefkens Institute, Rotterdam, The Netherlands
J Pathol 221:433-42. 2010..Among the genes revealing changes, interesting targets were identified: ie demethylation of KLF11, a putative tumour suppressor gene, and hypermethylation of CFLAR, a gene previously described in treatment resistance in GCTs...
Gonadoblastoma arising in undifferentiated gonadal tissue within dysgenetic gonadsMartine Cools
Department of Pathology, Erasmus Medical Center, University Medical Center Rotterdam, Josephine Nefkens Institute, Room 430b, P.O. Box 1738, 3000 DR Rotterdam, The Netherlands
J Clin Endocrinol Metab 91:2404-13. 2006..Supportive evidence was obtained that carcinoma in situ arises in regions with testicular differentiation...
Current views on the pathogenesis of testicular germ cell tumours and perspectives for future research: highlights of the 5th Copenhagen Workshop on Carcinoma in situ and Cancer of the TestisJ Wolter Oosterhuis
Department of Pathology and Laboratory for Experimental Patho Oncology, Erasmus University Medical Centre and Daniel den Hoed Cancer Centre, Josephine Nefkens Institute, Rotterdam, The Netherlands
APMIS 111:280-9. 2003..The major themes that emerged at the meeting are critically discussed and perspectives for future research in this field are presented...
Differentiation and development of human female germ cells during prenatal gonadogenesis: an immunohistochemical studyH Stoop
Department of Pathology, Josephine Nefkens Institute, Erasmus MC-University Medical Center Rotterdam, Rotterdam, The Netherlands
Hum Reprod 20:1466-76. 2005..On the other hand, germ cells undergoing folliculogenesis have lost their pluripotent potential and no longer proliferate...
Diagnostic value of OCT3/4 for pre-invasive and invasive testicular germ cell tumoursJeroen de Jong
Department of Pathology, Josephine Nefkens Institute, Daniel den Hoed Cancer Center, Rotterdam, The Netherlands
J Pathol 206:242-9. 2005..The antibodies are robust and applicable with different methods of pretreatment and storage of tissue. This allows routine application of this diagnostic marker...
The PTEN gene in locally progressive prostate cancer is preferentially inactivated by bi-allelic gene deletionP C M S Verhagen
Department of Urology, Erasmus Medical Center, Dr Molewaterplein 40, 3015 GD Rotterdam, The Netherlands
J Pathol 208:699-707. 2006..Taken together, these data show that bi-allelic deletion is a major mechanism of PTEN inactivation in locally progressive prostate cancer...
Gene expression profiling and gene copy-number changes in malignant mesothelioma cell linesClaudia Zanazzi
Department of Pathology, Erasmus Medical Center, Daniel den Hoed Cancer Center, Josephine Nefkens Institute, Rotterdam, The Netherlands
Genes Chromosomes Cancer 46:895-908. 2007....
Recent developments in testicular germ cell tumor researchGert Jan M van de Geijn
Department of Pathology, Erasmus MC, Erasmus University Medical Center, Daniel den Hoed Cancer Center, Josephine Nefkens Institute, Rotterdam, The Netherlands
Birth Defects Res C Embryo Today 87:96-113. 2009..In this review, a summary will be given related to several recent developments in TGCT research, especially selected because of their putative clinical impact...
New insights into type II germ cell tumor pathogenesis based on studies of patients with various forms of disorders of sex development (DSD)Remko Hersmus
Department of Pathology, Erasmus MC University Medical Center Rotterdam, Daniel den Hoed Cancer Center, Josephine Nefkens Institute, Rotterdam, The Netherlands
Mol Cell Endocrinol 291:1-10. 2008..Subsequently, the relationship between type II GCTs and DSD will be described, resulting in a number of new insights into the development of the precursor lesions of these tumors...
Impact of the Y-containing cell line on histological differentiation patterns in dysgenetic gonadsMartine Cools
Department of Pathology, Erasmus MC University Medical Center Rotterdam, Josephine Nefkens Institute, 3000 DR Rotterdam, The Netherlnads
Clin Endocrinol (Oxf) 67:184-92. 2007..The objective was to gain insight into the role of Y chromosome distribution in the histological heterogeneity of gonads of patients with gonadal dysgenesis...
Why human extragonadal germ cell tumours occur in the midline of the body: old concepts, new perspectivesJ Wolter Oosterhuis
Department of Pathology, Erasmus University Medical Center, Josephine Nefkens Institute, Rotterdam, The Netherlands
Int J Androl 30:256-63; discussion 263-4. 2007....
Role of gain of 12p in germ cell tumour developmentLeendert H J Looijenga
Pathology Lab for Exp Patho Oncology, Erasmus MC Daniel den Hoed Cancer Center, Rotterdam, The Netherlands
APMIS 111:161-71; discussion 172-3. 2003..So far, DAD-R is one of the most likely candidate genes involved in this process, possibly via N-glycosylation. Preliminary results on high through-put DNA- and cDNA array analyses of 12p-sequences will be presented...
Testicular germ-cell tumours in a broader perspectiveJ Wolter Oosterhuis
Department of Pathology, Erasmus MC, University Medical Center Rotterdam, Daniel den Hoed Cancer Center, Josephine Nefkens Institute, Dr Molewaterplein 50, 3015 GE Rotterdam, The Netherlands
Nat Rev Cancer 5:210-22. 2005..Recent progress begins to explain the apparent unpredictable development of germ-cell tumours and offers a basis for understanding their exquisite sensitivity to therapy...
Microsatellite instability of germ cell tumors is associated with resistance to systemic treatmentFrank Mayer
Pathology/Laboratory for Exp. Patho-Oncology, University Hospital Rotterdam/Daniel, Josephine Nefkens Institute, Erasmus University Rotterdam, 3000 DR Rotterdam, The Netherlands
Cancer Res 62:2758-60. 2002..001). In 5 of all 11 unstable tumors, MSI correlated with immunohistochemical findings. This study demonstrates for the first time a positive correlation between MSI and treatment resistance in GCT...
Maturation delay of germ cells in fetuses with trisomy 21 results in increased risk for the development of testicular germ cell tumorsMartine Cools
Department of Pathology, Josephine Nefkens Institute, Erasmus MC-University Medical Center, Daniel den Hoed, 3000 DR Rotterdam, The Netherlands
Hum Pathol 37:101-11. 2006....
Heterogeneous distribution of ITGCNU in an adult testis: consequences for biopsy-based diagnosisNiels J van Casteren
Department of Andrology, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands
Int J Surg Pathol 16:21-4. 2008....
Germ cell lineage differentiation in non-seminomatous germ cell tumoursFriedemann Honecker
Department of Pathology, Erasmus MC-University Medical Center Rotterdam, Daniel den Hoed Cancer Center, Josephine Nefkens Institute, Rotterdam, The Netherlands
J Pathol 208:395-400. 2006..Our finding indicates a previously unknown totipotent potential of human GCTs and raises the question of whether, under certain culture conditions, primordial germ cells could be derived from human GCT cell lines...
A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastomaRemko Hersmus
Department of Pathology, Erasmus MC University Medical Center Rotterdam, Josephine Nefkens Institute, Daniel den Hoed Cancer Center, Rotterdam, The Netherlands
Eur J Hum Genet 17:1642-9. 2009....
Noninvasive detection of testicular carcinoma in situ in semen using OCT3/4Niels J van Casteren
Department of Urology, Section Andrology, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands
Eur Urol 54:153-8. 2008..We performed a study to detect CIS cells in semen using the highly specific immunohistochemical marker OCT3/4, potentially a method for noninvasive diagnosis...
Specific detection of OCT3/4 isoform A/B/B1 expression in solid (germ cell) tumours and cell lines: confirmation of OCT3/4 specificity for germ cell tumoursM A Rijlaarsdam
Department of Pathology, Josephine Nefkens Institute, Daniel den Hoed Cancer Center, Rotterdam, The Netherlands
Br J Cancer 105:854-63. 2011..Of the three identified isoforms--OCT4A, OCT4B and OCT4B1--only OCT4A proved to regulate pluripotency. Up until now, no convincing nuclear OCT4A protein expression has been shown in somatic cancers or tissues...
Further characterization of the first seminoma cell line TCam-2Jeroen de Jong
Department of Pathology, Daniel den Hoed Cancer Center, Josephine Nefkens Institute, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands
Genes Chromosomes Cancer 47:185-96. 2008..In conclusion, TCam-2 is the first well-characterized seminoma-derived cell line, with an exceptional mutation, rarely found in TGCTs...
Resistance to platinum-containing chemotherapy in testicular germ cell tumors is associated with downregulation of the protein kinase SRPK1Paul W Schenk
Department of Medical Oncology, Erasmus MC, Rotterdam, The Netherlands
Neoplasia 6:297-301. 2004..001). In conclusion, our data suggest that SRPK1 expression might be an important prognostic indicator for the chemoresponsiveness of nonseminomatous GCTs...
Role of P53 and MDM2 in treatment response of human germ cell tumorsAnne-Marie F Kersemaekers
Department of Pathology/Laboratory for Experimental Patho-Oncology, University Hospital Rotterdam/Daniel, Josephine Nefkens Institute, Erasmus University Rotterdam, Rotterdam, The Netherlands
J Clin Oncol 20:1551-61. 2002....
12p-amplicon structure analysis in testicular germ cell tumors of adolescents and adults by array CGHGaetano Zafarana
Pathology/Laboratory for Exp. Patho-Oncology, Erasmus MC-Erasmus University Medical Center/Daniel den Hoed Cancer Center, Rotterdam, The Netherlands
Oncogene 22:7695-701. 2003..These data support a mechanistic model in which at least two 12p genes, situated at the border regions of the amplicon, are positional candidates capable of actively supporting tumor progression in TGCTs...
Xeroderma pigmentosum group a protein and chemotherapy resistance in human germ cell tumorsFriedemann Honecker
Department of Pathology, Laboratory for Experimental Patho-Oncology, Josephine Nefkens Institute, Erasmus MC, University Medical Center Rotterdam, Daniel den Hoed Cancer Center, Rotterdam, The Netherlands
Lab Invest 83:1489-95. 2003..We therefore conclude that XPA does not play a critical role in overall treatment resistance of GCTs...
VASA is a specific marker for both normal and malignant human germ cellsAnne Marie Zeeman
Department of Pathology Laboratory for Experimental Patho Oncology, University Hospital of Rotterdam Daniel, Josephine Nefkens Institute, Erasmus University Rotterdam, The Netherlands
Lab Invest 82:159-66. 2002..Furthermore, these findings suggest that VASA is likely to serve as a useful and highly specific biomarker for germ cell tumors, particularly classic and spermatocytic seminoma/dysgerminoma, including their precursor stages...
Coamplification of DAD-R, SOX5, and EKI1 in human testicular seminomas, with specific overexpression of DAD-R, correlates with reduced levels of apoptosis and earlier clinical manifestationGaetano Zafarana
Pathology Laboratory for Experimental Patho Oncology, University Hospital Rotterdam Daniel, Josephine Nefkens Institute, 3000 DR Rotterdam, The Netherlands
Cancer Res 62:1822-31. 2002..In addition, our results also imply differences in expression regulation of DAD-R between seminomas and nonseminomas...
Molecular determinants of treatment response in human germ cell tumorsFrank Mayer
Department of Pathology/Laboratory for Experimental Patho-Oncology, Erasmus Medical Center/Daniel, Josephine Nefkens Institute, 3000 DR Rotterdam, The Netherlands
Clin Cancer Res 9:767-73. 2003..The up-regulation of various factors interfering with chemotherapy efficacy and ability for a p21-induced cell cycle arrest may explain the intrinsic chemotherapy resistance of mature teratomas...
Germ cell tumors in the intersex gonad: old paths, new directions, moving frontiersMartine Cools
Department of Pathology, Erasmus MC-University Medical Center Rotterdam, Josephine Nefkens Institute, The Netherlands
Endocr Rev 27:468-84. 2006..A new classification system for patients with DSD is proposed as a tool to refine our insight in the prevalence of germ cell tumors in specific diagnostic groups...
Stem cell marker OCT3/4 in tumor biology and germ cell tumor diagnostics: history and futureJeroen de Jong
Department of Pathology, Erasmus MC-University Medical Center Rotterdam, Josephine Nefkens Institute, Daniel den Hoed, Rotterdam, The Netherlands
Crit Rev Oncog 12:171-203. 2006..An overview of the upstream and downstream factors in the OCT3/4 pathway as well as the epigenetic regulation of the gene is summarized and the possible role in oncogenesis considered...
Involvement of the Fas/FasL pathway in the pathogenesis of germ cell tumours of the adult testisAnne-Marie F Kersemaekers
Pathology/Laboratory for Exp. Patho-Oncology, University Hospital Rotterdam/Daniel, Josephine Nefkens Institute, Erasmus University Rotterdam, Building Be, Room 430b, PO Box 1738, 3000 DR Rotterdam, The Netherlands
J Pathol 196:423-9. 2002....
JKT-1 is not a human seminoma cell lineJeroen de Jong
Department of Pathology, Erasmus MC University Medical Center Rotterdam, Josephine Nefkens Institute, Daniel den Hoed Cancer Center
Int J Androl 30:350-65. 2007..All results indicate that the JKT-1 cell line is not representative of human seminoma. Although it can originate from an early germ cell, a non-germ cell derivation cannot be excluded...
Raman spectroscopic analysis identifies testicular microlithiasis as intratubular hydroxyapatiteB W D De Jong
Department of Pediatric Urology, Erasmus Medical Center, University Medical Center, Rotterdam, The Netherlands
J Urol 171:92-6. 2004..We analyzed the molecular composition of gonadal microlithiasis and its surrounding region using Raman spectroscopy in malignant and benign conditions...
Morphological and immunohistochemical differences between gonadal maturation delay and early germ cell neoplasia in patients with undervirilization syndromesMartine Cools
Department of Pathology, Erasmus MC, University Medical Center Rotterdam, Josephine Nefkens Institute, Room 430b, P.O. Box 1738, 3000 DR Rotterdam, The Netherlands
J Clin Endocrinol Metab 90:5295-303. 2005..Studies in larger patient series are essential before a biopsy to evaluate the neoplastic risk can eventually be proposed as an alternative for gonadectomy...
Pathobiology of testicular germ cell tumors: views and newsLeendert H J Looijenga
Department of Pathology, Erasmus Medical Center, University Medical Center Rotterdam, The Netherlands
Anal Quant Cytol Histol 24:263-79. 2002..In addition, the available data on the molecular basis of treatment sensitivity and resistance of GCT are reviewed...
Chromosomal anomalies in oligodendroglial tumors are correlated with clinical featuresMartin J van den Bent
Department of Neurooncology, Erasmus University Medical Center Rotterdam Daniel den Hoed Cancer Center, Rotterdam, The Netherlands
Cancer 97:1276-84. 2003..The authors investigated the correlation between genetic and clinical characteristics of OD in 33 patients who received chemotherapy with procarbazine, lomustine, and vincristine for recurrent disease after receiving radiotherapy...
Successful treatment of low-grade oligodendroglial tumors with a chemotherapy regimen of procarbazine, lomustine, and vincristineElize M Biemond-ter Stege
Department of Neurology/Neuro-Oncology, Erasmus University Medical Center/Daniel Den Hoed Cancer Center, Rotterdam, The Netherlands
Cancer 103:802-9. 2005..Up-front chemotherapy may be indicated especially for patients with large tumors. MRI scans were of limited value for the assessment of response. A Phase III trial should be initiated to compare radiotherapy with chemotherapy...
New insights into the pathology and molecular biology of human germ cell tumorsFriedemann Honecker
Department of Pathology, Josephine Nefkens Institute, Erasmus MC-University Medical Center Rotterdam, Daniel den Hoed Cancer Center, Room 430b, P.O. Box 1738 3000 DR Rotterdam, The Netherlands
World J Urol 22:15-24. 2004..The pluripotency of GCTs, in particular the possible loss of the embryonic characteristics and acquisition of somatic differentiation, could be a crucial phenomenon in this process...
A genetic screen implicates miRNA-372 and miRNA-373 as oncogenes in testicular germ cell tumorsP Mathijs Voorhoeve
Division of Tumour Biology, The Netherlands Cancer Institute, Amsterdam, The Netherlands
Cell 124:1169-81. 2006..We provide evidence that these miRNAs are potential novel oncogenes participating in the development of human testicular germ cell tumors by numbing the p53 pathway, thus allowing tumorigenic growth in the presence of wild-type p53...
IGF2/H19 imprinting analysis of human germ cell tumors (GCTs) using the methylation-sensitive single-nucleotide primer extension method reflects the origin of GCTs in different stages of primordial germ cell developmentSonja Sievers
Clinic of Pediatric Oncology, Haematology and Immunology, Medical Center, Heinrich-Heine-University, Moorenstrasse 5, , Germany
Genes Chromosomes Cancer 44:256-64. 2005..c) 2005 Wiley-Liss, Inc...
The Y-encoded TSPY protein: a significant marker potentially plays a role in the pathogenesis of testicular germ cell tumorsYunmin Li
Department of Medicine, VA Medical Center, University of California, San Francisco, CA 94121, USA
Hum Pathol 38:1470-81. 2007..Our results suggest that TSPY, in combination with other markers, could be an important marker for diagnosis and subclassification of TGCTs and support its role in the pathogenesis of both gonadoblastoma and TGCTs...
Amplification and overexpression of the KIT gene is associated with progression in the seminoma subtype of testicular germ cell tumors of adolescents and adultsAlan McIntyre
Molecular Cytogenetics, Section of Molecular Carcinogenesis, The Institute of Cancer Research, Sutton, Surrey, United Kingdom
Cancer Res 65:8085-9. 2005....
Molecular characterization of hiwi, a human member of the piwi gene family whose overexpression is correlated to seminomasDan Qiao
Department of Cell Biology, Duke University Medical Center, PO Box 3709, DUMC, Durham, North Carolina, NC 27710, USA
Oncogene 21:3988-99. 2002..Thus, hiwi is specifically expressed in both normal and malignant spermatogenic cells in a maturation stage-dependent pattern, in which it might function in germ cell proliferation...
A 40-year-old woman with a progressive periventricular white matter lesionJeroen de Jong
Brain Pathol 18:103-4, 142. 2008
Characteristics of testicular dysgenesis syndrome and decreased expression of SRY and SOX9 in Frasier syndromeValerie Schumacher
Institute of Human Genetics, Heinrich Heine University, Duesseldorf, Germany
Mol Reprod Dev 75:1484-94. 2008..To further study the function of human Sertoli cells in the future, we have established a human cell line...
The Y deletion gr/gr and susceptibility to testicular germ cell tumorKatherine L Nathanson
Department of Medicine, Abramson Family Cancer Research Institute, University of Pennsylvania, Philadelphia, PA 19104, USA
Am J Hum Genet 77:1034-43. 2005..0; 95% CI 1.6-5.4; P = .0004) than with nonseminoma TGCT (aOR 1.5; 95% CI 0.72-3.0; P = .29). These data indicate that the Y microdeletion gr/gr is a rare, low-penetrance allele that confers susceptibility to TGCT...
The pluripotency homeobox gene NANOG is expressed in human germ cell tumorsAdam H Hart
The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia
Cancer 104:2092-8. 2005..Here we investigate the expression and gene copy number of NANOG in human germ cells and tumors of germ cell origin...
Sequence analysis of the protein kinase gene family in human testicular germ-cell tumors of adolescents and adultsGraham Bignell
Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, CB10 1SA, United Kingdom
Genes Chromosomes Cancer 45:42-6. 2006..Moreover, they demonstrate that the general prevalence of point mutations in TGCT is low, in contrast to the high frequency of copy number changes...
A genetic screen implicates miRNA-372 and miRNA-373 as oncogenes in testicular germ cell tumorsP Mathijs Voorhoeve
Division of Tumour Biology, The Netherlands Cancer Institute, Amsterdam, The Netherlands
Adv Exp Med Biol 604:17-46. 2007..We provide evidence that these miRNAs are potential novel oncogenes participating in the development of human testicular germ cell tumors by numbing the p53 pathway, thus allowing tumorigenic growth in the presence of wild-type p53...
Germ cell tumours in neonates and infants: a distinct subgroup?Imke M Veltman
Department of Human Genetics, University Medical Center Nijmegen, Nijmegen, The Netherlands
APMIS 111:152-60; discussion 160. 2003..Recently, two cases of infantile GCT were detected with constitutional 12q13 translocations. These exceptional cases may be instrumental in the search for candidate genes related to infantile and/or adult GCT development...
Somatic mutations of the protein kinase gene family in human lung cancerHelen Davies
The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, United Kingdom
Cancer Res 65:7591-5. 2005..The results suggest that several mutated protein kinases may be contributing to lung cancer development, but that mutations in each one are infrequent...
A pure triphasic testicular wilms tumor of primordial germ cell originLeendert H J Looijenga
Urology 72:232-3; author reply 233. 2008
Fusion of the SUMO/Sentrin-specific protease 1 gene SENP1 and the embryonic polarity-related mesoderm development gene MESDC2 in a patient with an infantile teratoma and a constitutional t(12;15)(q13;q25)Imke M Veltman
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Hum Mol Genet 14:1955-63. 2005..Together, the constitutional t(12;15)(q13;q25) translocation revealed two novel candidate genes for neonatal/infantile GCT development: MESDC2 and SENP1...
CD30 is a survival factor and a biomarker for transformed human pluripotent stem cellsDaniella Herszfeld
Monash Institute of Medical Research, Monash University, and the Australian Stem Cell Centre, Bldg. 75 STRIP, Wellington Road, Clayton, Victoria 3800 Australia
Nat Biotechnol 24:351-7. 2006..Here we show that CD30, a member of the tumor necrosis factor receptor superfamily, is expressed on transformed but not normal hES cells, and that CD30 expression protects hES cells against apoptosis...
Lung cancer: intragenic ERBB2 kinase mutations in tumoursPhilip Stephens
Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK
Nature 431:525-6. 2004..ERBB2 inhibitors, which have so far proved to be ineffective in treating lung cancer, should now be clinically re-evaluated in the specific subset of patients with lung cancer whose tumours carry ERBB2 mutations...
Are all testicular seminomas of animals in fact spermatocytic seminomas?Leendert H J Looijenga
Vet Pathol 44:126. 2007
