Ronald R de Krijger

Summary

Affiliation: Erasmus MC
Country: The Netherlands

Publications

  1. ncbi request reprint Von Hippel-Lindau gene alterations in sporadic benign and malignant pheochromocytomas
    Hilde Dannenberg
    Department of Pathology, Josephine Nefkens Institute, Erasmus Medical Center, Rotterdam, The Netherlands
    Int J Cancer 105:190-5. 2003
  2. ncbi request reprint Endocrine tumor syndromes in infancy and childhood
    Ronald R de Krijger
    Department of Pathology, Josephine Nefkens Institute, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    Endocr Pathol 15:223-6. 2004
  3. ncbi request reprint Gain of chromosome 8q is a frequent finding in pleuropulmonary blastoma
    Ronald R de Krijger
    Department of Pathology, Josephine Nefkens Institute, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands
    Mod Pathol 20:1191-9. 2007
  4. pmc A non-catecholamine-producing sympathetic paraganglioma of the spermatic cord: the importance of performing candidate gene mutation analysis
    Despoina Alataki
    Department of Pathology, Hippokration General Hospital of Thessaloniki, Greece
    Virchows Arch 457:619-22. 2010
  5. ncbi request reprint New developments in the detection of the clinical behavior of pheochromocytomas and paragangliomas
    Ronald R de Krijger
    Department of Pathology, Josephine Nefkens Institute, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    Endocr Pathol 17:137-41. 2006
  6. ncbi request reprint Criteria and markers for malignancy in endocrine tumors
    Ronald R de Krijger
    Department of Pathology, Josephine Nefkens Institute, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    Endocr Pathol 17:107-8. 2006
  7. ncbi request reprint Frequent genetic changes in childhood pheochromocytomas
    Ronald R de Krijger
    Department of Pathology, Josephine Nefkens Institute, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    Ann N Y Acad Sci 1073:166-76. 2006
  8. ncbi request reprint Heterotopic pancreatic tissue presenting as a solid and cystic lung lesion: a very unusual bronchopulmonary foregut malformation
    Ronald R de Krijger
    Department of Pathology, Josephine Nefkins Institute, Room 222, Erasmus MC University Medical Center Rotterdam, Post Office Box 1738, 3000 DR Rotterdam, The Netherlands
    Pediatr Dev Pathol 7:204-9. 2004
  9. pmc Adrenocortical neoplasia: evolving concepts in tumorigenesis with an emphasis on adrenal cortical carcinoma variants
    Ronald R de Krijger
    Department of Pathology, Josephine Nefkens Institute, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands
    Virchows Arch 460:9-18. 2012
  10. doi request reprint Frequent loss of 17p, but no p53 mutations or protein overexpression in benign and malignant pheochromocytomas
    Bart Jeroen Petri
    Department of Pathology, Josephine Nefkens Institute, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    Mod Pathol 21:407-13. 2008

Collaborators

Detail Information

Publications75

  1. ncbi request reprint Von Hippel-Lindau gene alterations in sporadic benign and malignant pheochromocytomas
    Hilde Dannenberg
    Department of Pathology, Josephine Nefkens Institute, Erasmus Medical Center, Rotterdam, The Netherlands
    Int J Cancer 105:190-5. 2003
    ..We report novel VHL mutations in sporadic pheochromocytomas, which are slightly correlated with malignancy. VHL mutations may have some impact on the malignant transformation of pheochromocytomas...
  2. ncbi request reprint Endocrine tumor syndromes in infancy and childhood
    Ronald R de Krijger
    Department of Pathology, Josephine Nefkens Institute, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    Endocr Pathol 15:223-6. 2004
    ..Also, current screening and/or treatment guidelines are included...
  3. ncbi request reprint Gain of chromosome 8q is a frequent finding in pleuropulmonary blastoma
    Ronald R de Krijger
    Department of Pathology, Josephine Nefkens Institute, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands
    Mod Pathol 20:1191-9. 2007
    ....
  4. pmc A non-catecholamine-producing sympathetic paraganglioma of the spermatic cord: the importance of performing candidate gene mutation analysis
    Despoina Alataki
    Department of Pathology, Hippokration General Hospital of Thessaloniki, Greece
    Virchows Arch 457:619-22. 2010
    ..CLINICAL HISTORY AND METHODS: We describe a 45-year-old man with a non catecholamine-producing paraganglioma of the spermatic cord. We performed SDHB immunohistochemistry and performed mutation analysis of the SDHB, SDHC, and SDHD genes...
  5. ncbi request reprint New developments in the detection of the clinical behavior of pheochromocytomas and paragangliomas
    Ronald R de Krijger
    Department of Pathology, Josephine Nefkens Institute, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    Endocr Pathol 17:137-41. 2006
    ..In this article, recent attempts at marker detection, such as those mentioned above, as well as emerging knowledge on the molecular abnormalities in benign and malignant PCC and PGL will be presented...
  6. ncbi request reprint Criteria and markers for malignancy in endocrine tumors
    Ronald R de Krijger
    Department of Pathology, Josephine Nefkens Institute, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    Endocr Pathol 17:107-8. 2006
  7. ncbi request reprint Frequent genetic changes in childhood pheochromocytomas
    Ronald R de Krijger
    Department of Pathology, Josephine Nefkens Institute, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    Ann N Y Acad Sci 1073:166-76. 2006
    ..From our findings we conclude that (a) a large proportion (40%) of pediatric PCC patients is diagnosed in the context of inherited cancer syndromes, and (b) candidate gene analysis appears to be indicated to detect germline mutations...
  8. ncbi request reprint Heterotopic pancreatic tissue presenting as a solid and cystic lung lesion: a very unusual bronchopulmonary foregut malformation
    Ronald R de Krijger
    Department of Pathology, Josephine Nefkins Institute, Room 222, Erasmus MC University Medical Center Rotterdam, Post Office Box 1738, 3000 DR Rotterdam, The Netherlands
    Pediatr Dev Pathol 7:204-9. 2004
    ..To our knowledge, this is only the fourth reported case of heterotopic pancreatic tissue in the lung, and the first case where this bronchopulmonary foregut anomaly is not associated with a enteric duplication...
  9. pmc Adrenocortical neoplasia: evolving concepts in tumorigenesis with an emphasis on adrenal cortical carcinoma variants
    Ronald R de Krijger
    Department of Pathology, Josephine Nefkens Institute, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands
    Virchows Arch 460:9-18. 2012
    ..We additionally present emerging evidence concerning the adrenal cortical tumorigenesis and the putative adenoma-carcinoma sequence as well...
  10. doi request reprint Frequent loss of 17p, but no p53 mutations or protein overexpression in benign and malignant pheochromocytomas
    Bart Jeroen Petri
    Department of Pathology, Josephine Nefkens Institute, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    Mod Pathol 21:407-13. 2008
    ..We conclude that, although there is frequent loss of the p53 locus on 17p, the p53 gene does not appear to play a major role in pheochromocytoma tumorigenesis...
  11. ncbi request reprint Candidate gene mutation analysis in bilateral adrenal pheochromocytoma and sympathetic paraganglioma
    Esther Korpershoek
    Department of Pathology, Josephine Nefkens Institute, Erasmus MC, University Medical Center Rotterdam, JNI room 222, PO Box 2040, 3000 CR Rotterdam, The Netherlands
    Endocr Relat Cancer 14:453-62. 2007
    ..We suggest that sequential mutation analysis should be directed first at RET, followed by VHL and SDHD for patients with bilateral adrenal PCC at diagnosis, and at SDHB and SDHD for patients with sPGL...
  12. doi request reprint Array-comparative genomic hybridization in sporadic benign pheochromocytomas
    Francien H van Nederveen
    Department of Pathology, Josephine Nefkens Institute, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands
    Endocr Relat Cancer 16:505-13. 2009
    ..In addition, genes on 21q and 22q might play a more important role in PCC pathogenesis than had been assumed thus far...
  13. ncbi request reprint Clinical characteristics of pheochromocytoma patients with germline mutations in SDHD
    Hilde Dannenberg
    Department of Pathology, Josephine Nefkens Institute, Erasmus MC, University Medical Center, PO Box 1738, 3000 DR Rotterdam, The Netherlands
    J Clin Oncol 23:1894-901. 2005
    ..We examined the value of SDHD mutation screening in patients presenting with apparently sporadic and familial pheochromocytoma for the identification of SDHD-related pheochromocytomas...
  14. doi request reprint Non-pheochromocytoma (PCC)/paraganglioma (PGL) tumors in patients with succinate dehydrogenase-related PCC-PGL syndromes: a clinicopathological and molecular analysis
    Thomas G Papathomas
    Department of Pathology, Josephine Nefkens Institute, Erasmus MC, University Medical Center, PO Box 2040, 3000 CA Rotterdam, The Netherlands
    Eur J Endocrinol 170:1-12. 2014
    ..Absence of SDHB expression in tumors derived from tissues susceptible to SDH deficiency is not fully elucidated...
  15. ncbi request reprint An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis
    Francien H van Nederveen
    Department of Pathology, Josephine Nefkens Institute, Erasmus MC, University Medical Center, Rotterdam, Netherlands
    Lancet Oncol 10:764-71. 2009
    ..We investigated whether SDHB immunohistochemistry could effectively discriminate between SDH-related and non-SDH-related phaeochromocytomas and paragangliomas in large retrospective and prospective tumour series...
  16. doi request reprint Trp53 inactivation leads to earlier phaeochromocytoma formation in pten knockout mice
    Esther Korpershoek
    Department of Pathology, Josephine Nefkens Institute, Erasmus Medical Centre, CA Rotterdam, The Netherlands
    Endocr Relat Cancer 19:731-40. 2012
    ..Therefore, the present model appears to be a suitable model that might allow the preclinical study of new therapeutics for these tumours...
  17. ncbi request reprint Molecular genetic alterations in adrenal and extra-adrenal pheochromocytomas and paragangliomas
    Hilde Dannenberg
    Department of Pathology, Josephine Nefkens Institute, Erasmus MC Rotterdam, The Netherlands
    Endocr Pathol 14:329-50. 2003
    ..This review presents an overview of our current understanding of the molecular pathogenesis of pheochromocytoma and paraganglioma...
  18. doi request reprint SDHA mutations in adult and pediatric wild-type gastrointestinal stromal tumors
    Lindsey Oudijk
    Department of Pathology, Erasmus MC, University Medical Center Rotterdam, Josephine Nefkens Institute, Rotterdam, The Netherlands
    Mod Pathol 26:456-63. 2013
    ..Identifying GISTs with deficient SDH activity warrants additional genetic testing, evaluation and follow-up for inherited disorders and paragangliomas...
  19. ncbi request reprint Involvement of E-cadherin and beta-catenin in germ cell tumours and in normal male fetal germ cell development
    Friedemann Honecker
    Department of Pathology, Josephine Nefkens Institute, Rotterdam, The Netherlands
    J Pathol 204:167-74. 2004
    ....
  20. ncbi request reprint Parasympathetic paragangliomas are part of the Von Hippel-Lindau syndrome
    José Gaal
    Department of Pathology, Josephine Nefkens Institute, Erasmus MC, University Medical Center Rotterdam, 3000 CA Rotterdam, The Netherlands
    J Clin Endocrinol Metab 94:4367-71. 2009
    ..However, in parasympathetic paragangliomas occurring in VHL disease, biallelic inactivation of the VHL gene has not been demonstrated to date...
  21. ncbi request reprint SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas
    Esther Korpershoek
    Department of Pathology, Erasmus MC University Medical Center Rotterdam, PO Box 2040, 3000 CA Rotterdam, The Netherlands
    J Clin Endocrinol Metab 96:E1472-6. 2011
    ..A recent report described a patient with an abdominal paraganglioma, immunohistochemically negative for SDHA, and identified a causal germline mutation in SDHA...
  22. doi request reprint Expression of hypoxia-inducible factors, regulators, and target genes in congenital diaphragmatic hernia patients
    Irene W J M van der Horst
    Department of Pediatric Surgery, Erasmus MC Sophia, Rotterdam, The Netherlands
    Pediatr Dev Pathol 14:384-90. 2011
    ..A lower expression of VEGF mRNA in CDH patients in the alveolar stage, possibly as a result of downregulation of HIF-2α might indicate a role for these factors in the pathophysiology of CDH...
  23. ncbi request reprint Microarray-based CGH of sporadic and syndrome-related pheochromocytomas using a 0.1-0.2 Mb bacterial artificial chromosome array spanning chromosome arm 1p
    Marieke Aarts
    Department of Pathology, Josephine Nefkens Institute, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands
    Genes Chromosomes Cancer 45:83-93. 2006
    ..3, and 1p34.3-1p36.33. In conclusion, these data strongly suggest that chromosome arm 1p is the site for multiple tumor suppressor genes, although the potential candidate genes CDKN2C and PTPRF/LAR are not included in these regions...
  24. ncbi request reprint p53 alterations and their relationship to SDHD mutations in parasympathetic paragangliomas
    Francien H van Nederveen
    Department of Pathology, Josephine Nefkens Institute, Erasmus Medical Center, Rotterdam, The Netherlands
    Mod Pathol 16:849-56. 2003
    ..Given the fact that hypoxia induces p53 expression and regarding the absence of p53 mutations, these results suggest that p53 inactivation does not play a major role in the tumorigenesis of hereditary and sporadic paragangliomas...
  25. ncbi request reprint Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomas
    José Gaal
    Department of Pathology, Josephine Nefkens Institute, Room Ae304, Erasmus MC, University Medical Center Rotterdam, P O Box 2040, 3000 CA Rotterdam, The Netherlands
    J Clin Endocrinol Metab 95:1274-8. 2010
    ..These findings suggest that inactivating IDH1 and IDH2 mutations might also play a role in paraganglioma and pheochromocytoma tumorigenesis, especially in non-SDH- or non-VHL-related tumors...
  26. ncbi request reprint Maturation delay of germ cells in fetuses with trisomy 21 results in increased risk for the development of testicular germ cell tumors
    Martine 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
    ....
  27. ncbi request reprint Frequent germ-line succinate dehydrogenase subunit D gene mutations in patients with apparently sporadic parasympathetic paraganglioma
    Hilde Dannenberg
    Department of Pathology, Josephine Nefkens Institute, Erasmus Medical Center, 1738 Rotterdam, The Netherlands
    Clin Cancer Res 8:2061-6. 2002
    ..We used conformation-dependent gel electrophoresis and sequence determination analysis of germ-line and tumor DNA to identify SDHD mutations. We compared the clinical and molecular characteristics of sporadic and hereditary PGLs...
  28. doi request reprint High anaplastic lymphoma kinase immunohistochemical staining in neuroblastoma and ganglioneuroblastoma is an independent predictor of poor outcome
    Floor A M Duijkers
    Department of Pediatric Oncology Hematology, Sophia Children s Hospital, Erasmus MC, Rotterdam, The Netherlands
    Am J Pathol 180:1223-31. 2012
    ..In conclusion, ALK positivity by IHC is an independent, poor prognostic factor in patients with GNBL and NBL. ALK IHC is an easy test suitable for future risk stratification in patients with NBL and GNBL...
  29. doi request reprint Conditional Pten knock-out mice: a model for metastatic phaeochromocytoma
    Esther Korpershoek
    Department of Pathology, Josephine Nefkens Institute, Erasmus MC, University Medical Center, Rotterdam, The Netherlands
    J Pathol 217:597-604. 2009
    ..The mouse model should allow further studies into the pathogenesis of human malignant PCCs and into therapeutic strategies for these tumours...
  30. doi request reprint Intra-tumoral molecular heterogeneity in benign and malignant pheochromocytomas and extra-adrenal sympathetic paragangliomas
    Esther Korpershoek
    Department of Pathology, Josephine Nefkens Institute, Erasmus MC, University Medical Center, 3000 CA Rotterdam, The Netherlands
    Endocr Relat Cancer 17:653-62. 2010
    ..We demonstrate that malignant PCC and sPGL have more intra-tumoral molecular heterogeneity than benign tumors, which suggests that benign and malignant PCC and sPGL have a different pathogenesis...
  31. pmc 5q11.2 deletion in a patient with tracheal agenesis
    Elisabeth M de Jong
    Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
    Eur J Hum Genet 18:1265-8. 2010
    ..No common deletions or duplications are found in our cohort, suggesting that TA is a genetically heterogeneous disorder...
  32. pmc ACTH-independent macronodular adrenocortical hyperplasia reveals prevalent aberrant in vivo and in vitro responses to hormonal stimuli and coupling of arginine-vasopressin type 1a receptor to 11β-hydroxylase
    Johannes Hofland
    Department of Internal Medicine, Section of Endocrinology, P, O, Box 2040, Rotterdam, CA, 3000, The Netherlands
    Orphanet J Rare Dis 8:142. 2013
    ..We investigated the prevalence of adrenocortical reactions to these stimuli in a large cohort of AIMAH patients, both in vivo and in vitro...
  33. pmc Expression of GAD67 and novel GAD67 splice variants during human fetal pancreas development: GAD67 expression in the fetal pancreas
    Esther Korpershoek
    Department of Pathology, Josephine Nefkens Institute, Room 222, Erasmus MC University Medical Centre Rotterdam, P O Box 2040, Dr Molenwaterplein 50, 3000 CA Rotterdam, The Netherlands
    Endocr Pathol 18:31-6. 2007
    ..We speculate that the expression of these GAD67 splice variants might be related to human fetal pancreas development...
  34. doi request reprint An immunological basis for chronic histiocytic intervillositis in recurrent fetal loss
    Averil D Reus
    Division of Obstetrics and Prenatal Medicine, Department of Obstetrics and Gynaecology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands
    Am J Reprod Immunol 70:230-7. 2013
    ..The aim of the study was to investigate the relationship between the severity of CHIV and the outcome of pregnancy and to compare the immune response between CHIV patients and controls to explore an immunological origin of CHIV...
  35. ncbi request reprint The occurrence of SDHB gene mutations in pheochromocytoma
    Francien H van Nederveen
    Department of Pathology, Erasmus MC University Medical Center Rotterdam, Josephine Nefkens Institute, Room Be 232, P O Box 1738, 3000 DR, Rotterdam, The Netherlands
    Ann N Y Acad Sci 1073:177-82. 2006
    ..Also, a link has been established between malignant behavior and inactivating mutations of SDHB. In this article we review the published SDHB gene mutations, as well as the location and behavior of the resulting PCCs...
  36. ncbi request reprint Expression of hypoxia-inducible factors in normal human lung development
    Prapapan Rajatapiti
    Department of Pediatric Surgery, Erasmus MC Sophia Children s Hospital, Rotterdam, The Netherlands
    Pediatr Dev Pathol 11:193-9. 2008
    ..As such, our results form the baseline data for the evaluation and interpretation of abnormal pulmonary vascular development...
  37. pmc Inhibin Alpha-Subunit (INHA) Expression in Adrenocortical Cancer Is Linked to Genetic and Epigenetic INHA Promoter Variation
    Johannes Hofland
    Department of Internal Medicine, Erasmus MC, Rotterdam, The Netherlands
    PLoS ONE 9:e104944. 2014
    ..701, p = 0.0036), but not associated with serum inhibin pro-αC levels. In conclusion, aberrant methylation and common genetic variation in the INHA promoter occur in human ACCs and are associated with decreased INHA expression. ..
  38. pmc Regulation of steroidogenesis in a primary pigmented nodular adrenocortical disease-associated adenoma leading to virilization and subclinical Cushing's syndrome
    Johannes Hofland
    Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands
    Eur J Endocrinol 168:67-74. 2013
    ..Mutations in the cAMP protein kinase A regulatory subunit type 1A (PRKAR1A) are causative of PPNAD. Steroidogenesis in PPNAD can be modified through a local glucocorticoid feed-forward loop...
  39. pmc SDHB immunohistochemistry: a useful tool in the diagnosis of Carney-Stratakis and Carney triad gastrointestinal stromal tumors
    José Gaal
    Department of Pathology, Josephine Nefkens Institute, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands
    Mod Pathol 24:147-51. 2011
    ..In case of negative SDHB staining in GISTs, Carney-Stratakis syndrome or Carney triad should be considered and appropriate clinical surveillance should be instituted...
  40. ncbi request reprint Expression of angiogenesis-related factors in lungs of patients with congenital diaphragmatic hernia and pulmonary hypoplasia of other causes
    Jessica D de Rooij
    Department of Pathology, Josephine Nefkens Institute, Room 222, Erasmus Medical Center, P O Box 1738, 3000 DR, Rotterdam, The Netherlands
    Pediatr Dev Pathol 7:468-77. 2004
    ..The differential expression of these proteins may provide a molecular basis for the histological differences observed in the lung vessels of patients with CDH...
  41. doi request reprint Identification of Familial Adenomatous Polyposis carriers among children with desmoid tumours
    Anna A Kattentidt Mouravieva
    Department of Clinical Genetics, Erasmus MC, University Medical Centre, Rotterdam, The Netherlands
    Eur J Cancer 48:1867-74. 2012
    ..The aim of this study is to form guidelines for the identification of possible APC germline mutation carriers among children with desmoid tumours, based on CTNNB1 mutation analysis and immunohistochemical analysis (IHC) for β-catenin...
  42. ncbi request reprint The significance of angiogenesis in malignant pheochromocytomas
    Patrick P G M Rooijens
    Department of Surgery, Medical Centre Rijnmond Zuid, Location Clara, Rotterdam, The Netherlands
    Endocr Pathol 15:39-45. 2004
    ..However, the clinical significance of this prognostic marker is rather weak, because only 4 of the 19 malignant pheochromocytomas had microvessel density higher than this threshold of 28.5%...
  43. ncbi request reprint Spatial and temporal expression of glucocorticoid, retinoid, and thyroid hormone receptors is not altered in lungs of congenital diaphragmatic hernia
    Prapapan Rajatapiti
    Department of Pediatric Surgery, Sophia Children s Hospital, Erasmus MC University Medical Center, 3015 GJ, Rotterdam, The Netherlands
    Pediatr Res 60:693-8. 2006
    ..Our results suggest that, as far as receptors are concerned, hypoplastic lungs of fetuses and newborns with CDH are potentially as responsive to glucocorticoids, thyroid hormone, and retinoic acid as the lungs of normal children...
  44. ncbi request reprint Childhood papillary thyroid carcinoma with miliary pulmonary metastases
    Josephina C J Vermeer-Mens
    Department of Pathology, Erasmus MC University Medical Center and Erasmus MC Sophia, Rotterdam, The Netherlands
    J Clin Oncol 24:5788-9. 2006
  45. ncbi request reprint Fetus with an unusual form of nonrhizomelic chondrodysplasia punctata: case report and review
    Marja W Wessels
    Department of Clinical Genetics, Erasmus University and University Hospital, Westzeedijk 112, 3016 AH Rotterdam, The Netherlands
    Am J Med Genet A 120:97-104. 2003
    ..The difficulties in reaching a causal diagnosis are illustrated here by a 23-week-old fetus with nonrhizomelic CDP characterized by extensive cartilage stippling, brachyphalangy, and nasal hypoplasia...
  46. ncbi request reprint Telomerase reverse transcriptase promoter mutations in tumors originating from the adrenal gland and extra-adrenal paraganglia
    Thomas G Papathomas
    Department of PathologyJosephine Nefkens Institute, Erasmus MC, Rotterdam, The NetherlandsDepartment of Pediatric Oncology HematologyErasmus MC Sophia Children s Hospital, Rotterdam, The NetherlandsSector of EndocrinologyDepartment of Internal Medicine, Erasmus MC, Rotterdam, The NetherlandsCancer Biology and Metabolism GroupInstitute of Genetics and Molecular Medicine, Edinburgh Cancer Research UK Centre, University of Edinburgh, Edinburgh, UKDepartment of Medical GeneticsUniversity of Cambridge, Cambridge, UKDepartment of SurgeryErasmus MC, Rotterdam, The NetherlandsDivision of EndocrinologyDepartment of Medicine, Radboud University Nijmegen Medical Center, Nijmegen, The NetherlandsDepartment of Medical OncologyErasmus MC, Rotterdam, The NetherlandsDepartment of PathologyReinier de Graaf Hospital, Delft, The Netherlands
    Endocr Relat Cancer 21:653-61. 2014
    ..We conclude that TERT promoter mutations occur in ACCs and ea PGLs. In addition, preliminary evidence indicates a potential association with the acquisition of TERT promoter mutations in SDH-deficient tumors...
  47. ncbi request reprint Pathobiological implications of the expression of markers of testicular carcinoma in situ by fetal germ cells
    Friedemann 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...
  48. doi request reprint Chorionic villous vascularization related to phenotype and genotype in first trimester miscarriages in a recurrent pregnancy loss cohort
    Averil D Reus
    Division of Obstetrics and Prenatal Medicine, Department of Obstetrics and Gynaecology, Erasmus MC University Medical Centre Rotterdam, Rotterdam, The Netherlands
    Hum Reprod 28:916-23. 2013
    ..Is there an association between chorionic villous vascularization, ultrasound findings and corresponding chromosome results in early miscarriage specimens from a cohort of recurrent pregnancy loss patients?..
  49. ncbi request reprint Agenesis of the trachea: phenotypic expression of a rare cause of fatal neonatal respiratory insufficiency in six patients
    Janine F Felix
    Department of Pediatric Surgery, Erasmus MC Sophia Children s Hospital, Rotterdam, The Netherlands
    Int J Pediatr Otorhinolaryngol 70:365-70. 2006
    ..Associated anomalies were found in five cases. The classification of tracheal agenesis, associated anomalies and potential therapeutic options are discussed...
  50. pmc Chlamydia trachomatis and placental inflammation in early preterm delivery
    G Ingrid J G Rours
    Department of Paediatric Infectious Disease and Immunology, Erasmus MC, Rotterdam, The Netherlands
    Eur J Epidemiol 26:421-8. 2011
    ..Our aim was to evaluate the relationship between the presence of Chlamydia trachomatis and signs of placental inflammation in women who delivered at 32 weeks gestation or less...
  51. ncbi request reprint Tumor response assessment to treatment with [177Lu-DOTA0,Tyr3]octreotate in patients with gastroenteropancreatic and bronchial neuroendocrine tumors: differential response of bone versus soft-tissue lesions
    Esther I van Vliet
    Department of Nuclear Medicine, Erasmus MC, University Medical Center, Rotterdam, The Netherlands
    J Nucl Med 53:1359-66. 2012
    ..We therefore compared the response of bone lesions with that of soft-tissue lesions to treatment with (177)Lu-octreotate in patients with gastroenteropancreatic and bronchial neuroendocrine tumors (NETs)...
  52. ncbi request reprint Characterization of the mTOR pathway in human normal adrenal and adrenocortical tumors
    Maria Cristina De Martino
    Department of Internal MedicineDivision of Endocrinology, Erasmus Medical Center, Rotterdam, The NetherlandsDipartimento di Medicina Clinica e ChirurgiaSezione di Endocrinologia, Universita Federico II, Naples, ItalyDepartment of PathologyErasmus Medical Center, Rotterdam and Reinier de Graaf Gasthuis, Delft, The Netherlands
    Endocr Relat Cancer 21:601-13. 2014
    ..In conclusion, these data suggest the presence of an activated mTOR pathway in a subset of ATs and a possible response to sirolimus only in certain ACC cases...
  53. doi request reprint Paragangliomas: update on differential diagnostic considerations, composite tumors, and recent genetic developments
    Thomas G Papathomas
    Department of Pathology, Josephine Nefkens Institute, Erasmus MC University Medical Center, P O Box 2040, 3000 CA, Rotterdam, The Netherlands Electronic address
    Semin Diagn Pathol 30:207-23. 2013
    ..All PCCs/PGLs are considered to pose some risk of metastasis, and long-term follow-up is advised. ..
  54. doi request reprint Solitary, multifocal and generalized myofibromas: clinicopathological and immunohistochemical features of 114 cases
    Lindsey Oudijk
    Department of Pathology, Josephine Nefkens Institute, Erasmus MC, Rotterdam, The Netherlands
    Histopathology 60:E1-11. 2012
    ..To report a large series of solitary and multiple myofibromas with systematic clinicopathological correlations...
  55. ncbi request reprint Congenital hemihypertrophy and pheochromocytoma, not a coincidental combination?
    Erica L T Van Den Akker
    Department of Paediatric Endocrinology, Sophia Childrens Hospital, Erasmus University Medical Centre, Rotterdam, The Netherlands
    Eur J Pediatr 161:157-60. 2002
    ..We speculate that the combination of congenital hemihypertrophy and pheochromocytoma is not coincidental and could be part of the clinical spectrum of the Beckwith-Wiedemann syndrome...
  56. ncbi request reprint Sunitinib-induced hypothyroidism is due to induction of type 3 deiodinase activity and thyroidal capillary regression
    Mariette H W Kappers
    Division of Pharmacology, Department of Internal Medicine, Erasmus Medical Center, 3000 CA Rotterdam, The Netherlands
    J Clin Endocrinol Metab 96:3087-94. 2011
    ..Anticancer treatment with the tyrosine kinase inhibitor sunitinib causes thyroid dysfunction...
  57. ncbi request reprint Does small intestinal atresia affect epithelial protein expression in human newborns?
    Maaike W Schaart
    Division of Neonatology, Department of Pediatrics, Erasmus Medical Center Sophia Children s Hospital, Rotterdam, The Netherlands
    J Pediatr Gastroenterol Nutr 43:576-83. 2006
    ..We investigated cell-type-specific protein expression proximal and distal to jejunal and ileal atresias in human newborns...
  58. ncbi request reprint Co-occurrence of massive perivillous fibrin deposition and chronic intervillositis: case report
    Martin A Weber
    Department of Pathology, Josephine Nefkens Institute, Erasmus MC University Medical Center, Rotterdam, The Netherlands, and Department of Histopathology, Guy s and St Thomas Hospital NHS Trust, London, UK
    Pediatr Dev Pathol 9:234-8. 2006
    ..To our knowledge, this is the first time the co-occurrence of MFD and CI is reported in the literature...
  59. ncbi request reprint Histological findings in unclassified sudden infant death, including sudden infant death syndrome
    Germaine Liebrechts-Akkerman
    Department of Pathology, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    Pediatr Dev Pathol 16:168-76. 2013
    ..034). In this study, in 10.2% of cases the histological findings were incompatible with SIDS or USID. Furthermore, several frequent nonspecific histological findings in the thymus that point toward an infection were found...
  60. ncbi request reprint Prenatal diagnosis of boomerang dysplasia
    Marja W Wessels
    Department of Clinical Genetics, Erasmus University and University Hospital, Rotterdam, The Netherlands
    Am J Med Genet A 122:148-54. 2003
    ..We report here a new case of boomerang dysplasia, which was detected prenatally in the 16th week of gestation by ultrasound...
  61. ncbi request reprint Distribution pattern of somatostatin and cortistatin mRNA in human central and peripheral tissues
    Virgil A S H Dalm
    Department of Internal Medicine, Josephine Nefkens Institute, Erasmus MC, Rotterdam, The Netherlands
    Clin Endocrinol (Oxf) 60:625-9. 2004
    ..Further studies demonstrated a selective expression of CST in tissues and cells of the human immune system, while SS was not expressed...
  62. doi request reprint Neuroendocrine tumors and tumor syndromes in childhood
    José Gaal
    Department of Pathology, Josephine Nefkens Institute, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    Pediatr Dev Pathol 13:427-41. 2010
    ..In addition, several individual neuroendocrine tumors are described, such as medullary thyroid carcinoma, gastroenteropancreatic tumors, pheochromocytoma, and paraganglioma, emphasizing specific histopathologic characteristics...
  63. ncbi request reprint Postmortem findings and clinicopathological correlation in congenital diaphragmatic hernia
    Marieke F van Dooren
    Department of Pediatric Surgery, Sophia Hospital, Erasmus MC Sophia, Rotterdam, Post Office Box 1738, 3000 Rotterdam, Dr, The Netherlands
    Pediatr Dev Pathol 7:459-67. 2004
    ..We concluded that postmortem examination has an important additional role in the detection of structural cardiac defects and malformations of the urogenital system and digestive tract in children with CDH...
  64. pmc Anaplastic lymphoma kinase (ALK) inhibitor response in neuroblastoma is highly correlated with ALK mutation status, ALK mRNA and protein levels
    Floor A M Duijkers
    Department of Pediatric Oncology Hematology, Erasmus MC Sophia Children s Hospital, Dr Molewaterplein 60, 3015 GJ, Rotterdam, The Netherlands
    Cell Oncol (Dordr) 34:409-17. 2011
    ..We examined the correlation between levels of ALK, phosphorylated ALK (pALK) and downstream signaling proteins and response to ALK inhibition in a large panel of both ALK mutated and wild type (WT) NBL cell lines...
  65. pmc Malignant struma ovarii: good response after thyroidectomy and I ablation therapy
    Erica W M Janszen
    Department of Obstetrics and Gynecology, sector of gynecologic oncology, Erasmus Medical Center, P O Box 2040, 3000 CA, Rotterdam, The Netherlands
    Clin Med Oncol 2:147-52. 2008
    ..Malignant struma ovarii is a rare malignant germ cell tumor of the ovary. Due to the rarity of this disease, treatment has not been uniform throughout the published literature...
  66. ncbi request reprint Ductuloinsular tumors of the pancreas: endocrine tumors with entrapped nonneoplastic ductules
    Susanne van Eeden
    Department of Pathology, Academic Medical Center, Amsterdam, The Netherlands
    Am J Surg Pathol 28:813-20. 2004
    ..quot;Pancreatic endocrine tumors with entrapped ductules" would be the preferred nomenclature since it better reflects the nonneoplastic nature of the ductules...
  67. ncbi request reprint Cytogenetic and p53 profiles in congenital cystic adenomatoid malformation: insights into its relationship with pleuropulmonary blastoma
    Sara O Vargas
    Department of Pathology, Children s Hospital Boston, and Department of Pathology, Harvard Medical School, MA, USA
    Pediatr Dev Pathol 9:190-5. 2006
    ..Overall, these findings provide evidence that CCAM is nonneoplastic. Although some may view CCAM as a PPB precursor, it remains biologically distinct in terms of karyotype and p53 status...
  68. ncbi request reprint Early and precursor lesions in endocrine pathology: innocent lambs or wolves in sheep's clothing?
    Ronald R de Krijger
    Pathobiology 74:277-8. 2007
  69. ncbi request reprint Dopamine receptor expression and function in corticotroph ectopic tumors
    Rosario Pivonello
    Department of Internal Medicine, Erasmus Medical Center, 3015 GE Rotterdam, The Netherlands
    J Clin Endocrinol Metab 92:65-9. 2007
    ..Dopamine receptor (DR) expression and dopamine agonist (DA) effectiveness have never been demonstrated in neuroendocrine tumors associated with ectopic ACTH syndrome (EAS)...
  70. ncbi request reprint Ghrelin expression in human and rat fetal lungs and the effect of ghrelin administration in nitrofen-induced congenital diaphragmatic hernia
    Marta Santos
    Life and Health Sciences Research Institute, University of Minho, Portugal
    Pediatr Res 59:531-7. 2006
    ....
  71. ncbi request reprint Dopamine receptor expression and function in human normal adrenal gland and adrenal tumors
    Rosario Pivonello
    Department of Molecular and Clinical Endocrinology and Oncology, Federico II University, Via Sergio Pansini, 5, 80131 Naples, Italy
    J Clin Endocrinol Metab 89:4493-502. 2004
    ....
  72. ncbi request reprint Prenatal prediction of pulmonary hypoplasia: clinical, biometric, and Doppler velocity correlates
    Jacqueline A M Laudy
    Department of Obstetrics and Gynecology, Erasmus Medical Center Rotterdam, Sophia Dijkzigt, The Netherlands
    Pediatrics 109:250-8. 2002
    ..To determine the value of pulmonary artery Doppler velocimetry relative to fetal biometric indices and clinical correlates in the prenatal prediction of lethal lung hypoplasia (LH) in prolonged (>1 week) oligohydramnios...
  73. ncbi request reprint Malignant pheochromocytoma: current status and initiatives for future progress
    Graeme Eisenhofer
    National Institutes of Health, Bethesda, Maryland 20892 1620, USA
    Endocr Relat Cancer 11:423-36. 2004
    ..Again the success of this will require well-designed and coordinated multi-center studies...
  74. ncbi request reprint Liver metastases arising from well-differentiated pancreatic endocrine neoplasms demonstrate increased VEGF-C expression
    Donna E Hansel
    Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    Mod Pathol 16:652-9. 2003
    ..We postulate that the upregulation of VEGF-C may be involved in PEN progression and metastases, although not via a direct proangiogenic mechanism...
  75. ncbi request reprint Somatic SDHB mutation in an extraadrenal pheochromocytoma
    Francien H van Nederveen
    N Engl J Med 357:306-8. 2007