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Rare Somatic MEN1 Gene Pathogenic Variant in a Patient Affected by Atypical Parathyroid Adenoma.

Luigia CinqueFlavia PuglieseCeleste ClementeStefano CastellanaMaria Pia LeoneDanilo de MartinoTeresa BalsamoClaudia BattistaTommaso BiaginiPaolo GrazianoMarco CastoriAlfredo ScillitaniVito Guarnieri
Published in: International journal of endocrinology (2020)
We report the second case of a rare association of a somatic MEN1 gene mutation in a patient with atypical parathyroid adenoma. We suggest that MEN1 gene could be an underestimate genetic determinant of these rare histological entities, and we highlight the utility of a complete genetic screening protocol, by the use of next-generation sequencing technology in such undetermined clinical cases with no frank clinical presentation.
Keyphrases
  • copy number
  • genome wide
  • middle aged
  • case report
  • dna methylation
  • randomized controlled trial
  • transcription factor