Succinate dehydrogenase and MYC-associated factor X mutations in pituitary neuroendocrine tumours

Paul Benjamin Loughrey*, Federico Roncaroli, Estelle Healy, Philip Weir, Madhu Basetti, Ruth T Casey, Steven J Hunter, Márta Korbonits

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

4 Citations (Scopus)
65 Downloads (Pure)

Abstract

Pituitary neuroendocrine tumours (PitNETs) associated with paragangliomas or phaeochromocytomas are rare. SDHx variants are estimated to be associated with 0.3–1.8% of PitNETs. Only a few case reports have documented the association with MAX variants. Prolactinomas are the most common PitNETs occurring in patients with SDHx variants, followed by somatotrophinomas, clinically non-functioning tumours and corticotrophinomas. One pituitary carcinoma has been described. SDHC, SDHB and SDHA mutations are inherited in an autosomal dominant fashion and tumorigenesis seems to adhere to Knudson’s two-hit hypothesis. SDHD and SDHAF2 mutations most commonly have paternal inheritance. Immunohistochemistry for SDHB or MAX and loss of heterozygosity analysis can support the assessment of pathogenicity of the variants. Metabolomics is promising in the diagnosis of SDHx-related disease. Future research should aim to further clarify the role of SDHx and MAX variants or other genes in the molecular pathogenesis of PitNETs, including pseudohypoxic and kinase signalling pathways along with elucidating epigenetic mechanisms to predict tumour behaviour.

Original languageEnglish
Pages (from-to)R157–R172
Number of pages16
JournalEndocrine-Related Cancer
Volume29
Issue number10
Early online date02 Sept 2022
DOIs
Publication statusPublished - 01 Oct 2022

Keywords

  • Pituitary
  • Neuroendocrinology
  • Neuroendocrine tumors
  • SDH
  • Succinate Dehydrogenase
  • Myc-associated factor X
  • Paraganglioma
  • Phaeochromocytoma
  • Rare disease

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