title: First reported case in Ireland of MEN2A due to a rare mutation in exon 8 of the RET oncogene.
abstract: We present the case of a 30-year-old female who was diagnosed with hereditary phaeochromocytoma secondary to a rare gene mutation in exon 8 of the RET oncogene. This genetic mutation was picked up as part of an extended genetic screen using a method known as next generation sequencing. Detection of this genetic mutation prompted further screening for the manifestation of multiple endocrine neoplasia type 2A (MEN2A). The patient subsequently underwent a thyroidectomy with histology confirming C-cell hyperplasia.
  
  
  CONCLUSIONS
  Genetic analysis is an important step in the diagnostic work up of phaeochromocytoma.Extended genetic analysis is important when there is a strong suspicion of hereditary phaeochromocytoma.Mutations in exon 8 of the RET gene are associated with phaeochromocytoma as part of MEN2A syndrome.
authors.affiliation: Department of Endocrinology Cork University Hospital Cork Ireland.
authors.forename: R
authors.initials: R
authors.lastname: Casey
authors.affiliation: Department of Pathology Cork University Hospital Cork Ireland.
authors.forename: S
authors.initials: S
authors.lastname: Prendeville
authors.affiliation: Department of Biochemistry Cork University Hospital Cork Ireland.
authors.forename: C
authors.initials: C
authors.lastname: Joyce
authors.affiliation: Department of Endocrinology Cork University Hospital Cork Ireland.
authors.forename: D
authors.initials: D
authors.lastname: O'Halloran