Johan O Paulsson1,2, F Svahn3,4, J Welander5, L Brunaud6, P Söderkvist5, O Gimm5,7, A Stenman3,4, C C Juhlin3,4. 1. Department of Oncology and Pathology, Karolinska Institutet, Karolinska University Hospital, CCK R8:04, 17176, Stockholm, Sweden. johan.paulsson@stud.ki.se. 2. Cancer Center Karolinska, CCK, Karolinska University Hospital, 171 76, Solna, Stockholm, Sweden. johan.paulsson@stud.ki.se. 3. Department of Oncology and Pathology, Karolinska Institutet, Karolinska University Hospital, CCK R8:04, 17176, Stockholm, Sweden. 4. Cancer Center Karolinska, CCK, Karolinska University Hospital, 171 76, Solna, Stockholm, Sweden. 5. Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linköping University, 581 85, Linköping, Sweden. 6. Department of Digestive, Hepato-Biliary and Endocrine Surgery, CHU Nancy - Hospital Brabois Adultes, University de Lorraine, 54511, Vandoeuvre-les-Nancy, France. 7. Department of Surgery, Region Östergötland, 58185, Linköping, Sweden.
Abstract
PURPOSE: 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.
PURPOSE: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 BRAFV600E mutation in PCC, suggesting a role for BRAF activation in tumor development. This study sought to further investigate the occurrence of the BRAFV600E mutation in these tumors. METHODS: A cohort of 110 PCCs was screened for the BRAFV600E 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 BRAFV600E mutation has been found among 361 PCCs. These findings imply that the BRAFV600E mutation is a rare event in pheochromocytoma.
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