An Unusual Phenotype of Multiple Endocrine Neoplasia Type 1 with a Small Intestine Neuroendocrine Tumor Associated with Large Deletion of the MEN1 Gene Abstract #1438

Introduction: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant inherited tumor syndrome that is caused by germline mutations in the Menin suppressor gene on chromosome 11q13. Small intestine neuroendocrine neoplasias (SI-NEN) are currently not considered to be part of the phenotype of the MEN1-syndrome.
Aim(s): Investigating a connection between an unusual and aggressive phenotype of the MEN1 syndrome with SI-NEN and the occurence of large deletion of the MEN1 gene.
Materials and methods: Besides conventional mutation analysis of MEN1 patients modern techniques as Multiplex-ligation-dependent probe amplification (MLPA) were used for the search for larger gene deletions. Ga68-Dotatoc PET/CT was used as an imaging method to detect SI-NENs
Conference: 13th Annual ENETS conference (2016)
Category: Clinical cases/reports
Presenting Author: MD Jerena Manoharan

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