Genomes and Genes
Affiliation: Erasmus MC
Country: The Netherlands
- Parasympathetic paragangliomas are part of the Von Hippel-Lindau syndromeJosé 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...
- Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomasJosé 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..Conclusion: IDH mutations are very rare in paragangliomas and pheochromocytomas and do not appear to play an important role in oncogenic HIF activation known to be present in these tumors...
- SDHB immunohistochemistry: a useful tool in the diagnosis of Carney-Stratakis and Carney triad gastrointestinal stromal tumorsJosé 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...
- SDHA mutations in adult and pediatric wild-type gastrointestinal stromal tumorsLindsey 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...
- An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysisFrancien 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...
- High anaplastic lymphoma kinase immunohistochemical staining in neuroblastoma and ganglioneuroblastoma is an independent predictor of poor outcomeFloor 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...
- SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomasEsther 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...
- Non-pheochromocytoma (PCC)/paraganglioma (PGL) tumors in patients with succinate dehydrogenase-related PCC-PGL syndromes: a clinicopathological and molecular analysisThomas 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...
- Neuroendocrine tumors and tumor syndromes in childhoodJosé 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...
- Anaplastic lymphoma kinase (ALK) inhibitor response in neuroblastoma is highly correlated with ALK mutation status, ALK mRNA and protein levelsFloor 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...