title: Absence of the BRAF V600E mutation in pheochromocytoma.
abstract: OBJECTIVE
  Pheochromocytomas (PCCs) are rare endocrine tumors originating from the adrenal medulla. These tumors display a highly heterogeneous mutation profile, and a substantial part of the causative genetic events remains to be explained. Recent studies have reported presence of the activating BRAF V600E mutation in PCC, suggesting a role for BRAF activation in tumor development. This study sought to further investigate the occurrence of the BRAF V600E mutation in these tumors.
  
  
  METHODS
  A cohort of 110 PCCs was screened for the BRAF V600E mutation using direct Sanger sequencing.
  
  
  RESULTS
  All cases investigated displayed wild-type sequences at nucleotide 1799 in the BRAF gene.
  
  
  CONCLUSIONS
  Taken together with all previously screened tumors up to date, only 1 BRAF V600E mutation has been found among 361 PCCs. These findings imply that the BRAF V600E mutation is a rare event in pheochromocytoma.
authors.affiliation: Department of Oncology and Pathology, Karolinska Institutet, Karolinska University Hospital, CCK R8:04, 17176, Stockholm, Sweden. johan.paulsson@stud.ki.se.|Cancer Center Karolinska, CCK, Karolinska University Hospital, 171 76, Solna, Stockholm, Sweden. johan.paulsson@stud.ki.se.
authors.forename: Johan O
authors.initials: JO
authors.lastname: Paulsson
authors.affiliation: Department of Oncology and Pathology, Karolinska Institutet, Karolinska University Hospital, CCK R8:04, 17176, Stockholm, Sweden.|Cancer Center Karolinska, CCK, Karolinska University Hospital, 171 76, Solna, Stockholm, Sweden.
authors.forename: F
authors.initials: F
authors.lastname: Svahn
authors.affiliation: Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linköping University, 581 85, Linköping, Sweden.
authors.forename: J
authors.initials: J
authors.lastname: Welander
authors.affiliation: Department of Digestive, Hepato-Biliary and Endocrine Surgery, CHU Nancy - Hospital Brabois Adultes, University de Lorraine, 54511, Vandoeuvre-les-Nancy, France.
authors.forename: L
authors.initials: L
authors.lastname: Brunaud
authors.affiliation: Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linköping University, 581 85, Linköping, Sweden.
authors.forename: P
authors.initials: P
authors.lastname: Söderkvist
authors.affiliation: Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linköping University, 581 85, Linköping, Sweden.|Department of Surgery, Region Östergötland, 58185, Linköping, Sweden.
authors.forename: O
authors.initials: O
authors.lastname: Gimm
authors.affiliation: Department of Oncology and Pathology, Karolinska Institutet, Karolinska University Hospital, CCK R8:04, 17176, Stockholm, Sweden.|Cancer Center Karolinska, CCK, Karolinska University Hospital, 171 76, Solna, Stockholm, Sweden.
authors.forename: A
authors.initials: A
authors.lastname: Stenman
authors.affiliation: Department of Oncology and Pathology, Karolinska Institutet, Karolinska University Hospital, CCK R8:04, 17176, Stockholm, Sweden.|Cancer Center Karolinska, CCK, Karolinska University Hospital, 171 76, Solna, Stockholm, Sweden.
authors.forename: C C
authors.initials: CC
authors.lastname: Juhlin
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000235:genetics* / Q000473:pathology; D006801:Humans; D009154:Mutation / Q000235:genetics*; D010673:Pheochromocytoma / Q000235:genetics* / Q000473:pathology; D011379:Prognosis; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*
chemical_list: C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf
keywords: Adrenal; BRAF; Mutation; Pheochromocytoma; Sequencing