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Paraganglioma and other tumour detection rates in individuals with SDHx pathogenic variants by age of diagnosis and after the age of 50.

Samantha E GreenbergRachel HolmanWendy KohlmannLuke BuchmannAnne Naumer
Published in: Clinical endocrinology (2021)
Though tumours were identified in individuals above the age of 50; they were all identified on baseline screening or due to symptoms, confirming that baseline screening is essential. Given the slow-growing nature of PGLs, these tumours might have been discovered before age 50 if molecular diagnosis and baseline screening had occurred earlier. Considering discontinuing screening after age 50 may be warranted if baseline screen imaging is negative and the individual does not have a prior tumour history.
Keyphrases
  • high resolution
  • gene expression
  • dna methylation
  • mass spectrometry
  • copy number
  • photodynamic therapy
  • depressive symptoms