What Have We Learned from Molecular Biology of Paragangliomas and Pheochromocytomas?

Thomas G. Papathomas, Diederik P.D. Suurd, Karel Pacak, Arthur S. Tischler, Menno R. Vriens, Alfred K. Lam, Ronald R. de Krijger

Onderzoeksoutput: Bijdrage aan tijdschriftArtikel recenserenpeer review

20 Citaten (Scopus)


Recent advances in molecular genetics and genomics have led to increased understanding of the aetiopathogenesis of pheochromocytomas and paragangliomas (PPGLs). Thus, pan-genomic studies now provide a comprehensive integrated genomic analysis of PPGLs into distinct molecularly defined subtypes concordant with tumour genotypes. In addition, new embryological discoveries have refined the concept of how normal paraganglia develop, potentially establishing a developmental basis for genotype–phenotype correlations for PPGLs. The challenge for modern pathology is to translate these scientific discoveries into routine practice, which will be based largely on histopathology for the foreseeable future. Here, we review recent progress concerning the cell of origin and molecular pathogenesis of PPGLs, including pathogenetic mechanisms, genetic susceptibility and molecular classification. The current roles and tools of pathologists are considered from a histopathological perspective, including differential diagnoses, genotype–phenotype correlations and the use of immunohistochemistry in identifying hereditary predisposition and validating genetic variants of unknown significance. Current and potential molecular prognosticators are also presented with the hope that predictive molecular biomarkers will be integrated into risk stratification scoring systems to assess the metastatic potential of these intriguing neoplasms and identify potential drug targets.

Originele taal-2Engels
Pagina's (van-tot)134-153
Aantal pagina's20
TijdschriftEndocrine Pathology
Nummer van het tijdschrift1
StatusGepubliceerd - mrt. 2021


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