Familial Cancer

, Volume 12, Issue 3, pp 529–535

Mutation screening in a Norwegian cohort with pheochromocytoma

  • Wenche Sjursen
  • Henrik Halvorsen
  • Eva Hofsli
  • Siri Bachke
  • Åsa Berge
  • Lars F. Engebretsen
  • Sture E. Falkmer
  • Ursula G. Falkmer
  • Jan E. Varhaug
Original Article

DOI: 10.1007/s10689-013-9608-0

Cite this article as:
Sjursen, W., Halvorsen, H., Hofsli, E. et al. Familial Cancer (2013) 12: 529. doi:10.1007/s10689-013-9608-0

Abstract

Pheochromocytomas (PHEOs) are neuroendocrine tumours, originating from chromaffin cells in the adrenal medulla. They are either sporadic or hereditary. It is important to identify the hereditary cases, so that patients and relatives with germline mutations can be offered regular surveillance. The objective of this study was the detection of pathogenic germline mutations in a cohort of Norwegian PHEO patients. Blood samples and/or formalin-fixed, paraffin-embedded tissue specimens, were collected from 60 patients who were operated upon between 1986 and 2004 at two university hospitals in Norway. DNA mutation analyses were performed successfully in the 42 blood samples and in one of the paraffin-embedded tissue specimen in VHL, RET, SDHB, SDHC, SDHD and NF1. In all, 32 different DNA variants were observed, of which 8 were classified as pathogenic (19 %), or possibly pathogenic; three in NF1, two in RET and VHL and one in SDHB. Two variants were observed in one patient, one in SDHB and one in NF1. Three of these variants are, to the best of our knowledge, new ones; two in NF1 [c.950_51insGCTGA, (p.Glu318LeufsX59) and c.1588G > A, (p.Val530Ile)] and one in VHL (c.308C > T, p.Pro103Leu). In conclusion the overall incidence of germline mutations in genes associated with familial PHEO was found to be of the same order of magnitude in the present Norwegian series as in those from other countries. Two new NF1 variants and one new VHL gene variant were detected.

Keywords

PheochromocytomaGerm line mutationsRETVHLSDHBSDHCSDHDNF1

Abbreviations

PHEO

Pheochromocytoma

NET

Neuroendocrine tumour

NF1

Neurofibromatosis type 1

SDH

Succinate dehydrogenase

VHL

von Hippel Lindau

Supplementary material

10689_2013_9608_MOESM1_ESM.pdf (118 kb)
Supplementary material 1 (PDF 118 kb)

Copyright information

© Springer Science+Business Media Dordrecht 2013

Authors and Affiliations

  • Wenche Sjursen
    • 1
    • 2
  • Henrik Halvorsen
    • 3
  • Eva Hofsli
    • 4
    • 5
  • Siri Bachke
    • 2
  • Åsa Berge
    • 2
  • Lars F. Engebretsen
    • 6
  • Sture E. Falkmer
    • 1
    • 2
    • 7
  • Ursula G. Falkmer
    • 4
    • 5
    • 8
  • Jan E. Varhaug
    • 3
    • 9
  1. 1.Departments of Pathology and Medical GeneticsSt Olav University HospitalTrondheimNorway
  2. 2.Department of Laboratory Medicine Children’s and Women’s HealthNorwegian University of Science and Technology (NTNU)TrondheimNorway
  3. 3.Department of Breast and Endocrine SurgeryHaukeland University HospitalBergenNorway
  4. 4.Cancer ClinicSt Olav University HospitalTrondheimNorway
  5. 5.Department of Cancer Research and Molecular MedicineNTNUTrondheimNorway
  6. 6.Center for Medical Genetics and Molecular MedicineHaukeland University HospitalBergenNorway
  7. 7.Laboratory of Clinical Pathology and CytologyJönköpingSweden
  8. 8.Oncology ClinicCounty Hospital RyhovJönköpingSweden
  9. 9.Department of Surgical SciencesUniversity of BergenBergenNorway