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MEN4, the MEN1 Mimicker: A Case Series of three Phenotypically Heterogenous Patients With Unique CDKN1B Mutations.

Amanda SeabrookAyanthi WijewardeneSunita De SousaTang WongNisa SheriffAnthony J GillRakesh IyerMichael FieldCatherine LuxfordRoderick Clifton-BlighAnn I McCormackKatherine Tucker
Published in: The Journal of clinical endocrinology and metabolism (2022)
Germline CDKN1B pathogenic variants cause the syndrome MEN4. The phenotype resulting from the 3 pathogenic variants described in this series highlights the heterogenous nature of this syndrome, ranging from isolated primary hyperparathyroidism to the full spectrum of endocrine manifestations. We report the first described cases of a prolactinoma and an atypical thymic carcinoid tumor in MEN4.
Keyphrases
  • middle aged
  • copy number
  • case report
  • gene expression
  • dna methylation