Lack of utility of SDHB mutation testing in adrenergic metastatic phaeochromocytoma

Mariko Sue, Victoria Martucci, Florina Frey, Jacques M W Lenders, Henri J Timmers, Mariola Peczkowska, Aleksander Prejbisz, Brede Swantje, Stefan R Bornstein, Wiebke Arlt, Martin Fassnacht, Felix Beuschlein, Mercedes Robledo, Karel Pacak, Graeme Eisenhofer

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Abstract

OBJECTIVE: Testing for succinate dehydrogenase subunit B (SDHB) mutations is recommended in all patients with metastatic phaeochromocytomas and paragangliomas (PPGLs), but may not be required when metastatic disease is accompanied by adrenaline production. This retrospective cohort study aimed to establish the prevalence of SDHB mutations among patients with metastatic PPGLs, characterised by production of adrenaline compared with those without production of adrenaline, and to establish genotype–phenotype features of metastatic PPGLs according to underlying gene mutations.

DESIGN AND METHODS: Presence of SDHB mutations or deletions was tested in 205 patients (114 males) aged 42+/-16 years (range 9–86 years) at diagnosis of metastatic PPGLs with and without adrenaline production.

RESULTS: Twenty-three of the 205 patients (11%) with metastatic PPGLs had disease characterised by production of adrenaline, as defined by increased plasma concentrations of metanephrine larger than 5% of the combined increase in both normetanephrine and metanephrine. None of these 23 patients had SDHB mutations. Of the other 182 patients with no tumoural adrenaline production, 51% had SDHB mutations. Metastases in bone were 36–41% more prevalent among patients with SDHB mutations or extra-adrenal primary tumours than those without mutations or with adrenal primary tumours. Liver metastases were 81% more prevalent among patients with adrenal than extra-adrenal primary tumours.

CONCLUSION: SDHB mutation testing has no utility among patients with adrenaline-producing metastatic PPGLs, but is indicated in other patients with metastatic disease. Our study also reveals novel associations of metastatic spread with primary tumour location and presence of SDHB mutations.

Original languageEnglish
Pages (from-to)89-95
Number of pages7
JournalEuropean Journal of Endocrinology
Volume172
Issue number2
Early online date4 Nov 2014
DOIs
Publication statusPublished - Feb 2015

Keywords

  • Adolescent
  • Adrenal Gland Neoplasms
  • Adult
  • Aged
  • Aged, 80 and over
  • Bone Neoplasms
  • Child
  • Female
  • Genetic Testing
  • Humans
  • Liver Neoplasms
  • Male
  • Middle Aged
  • Mutation
  • Pheochromocytoma
  • Principal Component Analysis
  • Retrospective Studies
  • Succinate Dehydrogenase
  • Young Adult

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