Pathology and genetics of phaeochromocytoma and paraganglioma

John Turchini, Veronica K. Y. Cheung, Arthur S. Tischler, Ronald R. de Krijger, Anthony J. Gill

Research output: Contribution to journalArticlepeer-review

112 Citations (Scopus)

Abstract

Phaeochromocytoma and paraganglioma (PHEO/PGL) are rare tumours with an estimated annual incidence of 3 per million. Advances in molecular understanding have led to the recognition that at least 30–40% arise in the setting of hereditary disease. Germline mutations in the succinate dehydrogenase genes SDHA, SDHB, SDHC, SDHD and SDHAF2 are the most prevalent of the more than 19 hereditary genetic abnormalities which have been reported. It is therefore recommended that, depending on local resources and availability, at least some degree of genetic testing should be offered to all PHEO/PGL patients, including those with clinically sporadic disease. It is now accepted that that all PHEO/PGL have some metastatic potential; therefore, concepts of benign and malignant PHEO/PGL have no meaning and have been replaced by a risk stratification approach. Although there is broad acceptance that certain features, including high proliferative activity, invasive growth, increased cellularity, large tumour nests and comedonecrosis, are associated with an increased risk of metastasis, it remains difficult to predict the clinical behaviour of individual tumours and no single risk stratification scheme is endorsed or in widespread use. In this review, we provide an update on advances in the pathology and genetics of PHEO/PGL with an emphasis on the changes introduced in the WHO 2017 classification of endocrine neoplasia relevant to practising surgical pathologists.
Original languageEnglish
Pages (from-to)97-105
Number of pages9
JournalHistopathology
Volume72
Issue number1
DOIs
Publication statusPublished - 2018
Externally publishedYes

Keywords

  • multiple endocrine neoplasia type 2
  • paraganglioma
  • phaeochromocytoma
  • succinate dehydrogenase
  • von Hippel-Lindau syndrome

Fingerprint

Dive into the research topics of 'Pathology and genetics of phaeochromocytoma and paraganglioma'. Together they form a unique fingerprint.

Cite this