Searchable abstracts of presentations at key conferences in endocrinology

ea0090ep585 | Endocrine-related Cancer | ECE2023

Phenotypic presentation of MEN1 (NM_130799.2):c.758delC (p.Ser253CysfsTer28) rs1592648765 pathogenic mutation of MEN-1 gene: a case report

Vergani Edoardo , Concolino Paola , Traini Emanuela , Macis Giuseppe , Mancini Antonio

Multiple endocrine neoplasia (MEN) 1 is a rare hereditary autosomal dominant tumor syndrome characterized by two or more endocrine tumors. Non-endocrine neoplasms have been described as well. MEN1 is caused by inactivating mutations of the onco-suppressor gene MEN-1 (chromosome 11q13) which encodes the protein menin. Currently, 897 public variants of MEN-1 gene are reported. We present the case of a recently discovered pathogenic mutations of MEN-1 gene. A 32-year-old Italian ...

ea0056gp241 | Thyroid Cancer - Translational | ECE2018

Detection of lncRNAs in thyroid nodule as new tool for tumor diagnosis: analysis by Droplet Digital PCR in Fine Needle Aspiration biopsy

Nanni Simona , Locantore Pietro , Bacci Lorenza , Aurora Aiello , Fadda Guido , Traini Emanuela , Bellantone Rocco , Grassi Claudio , Farsetti Antonella , Pontecorvi Alfredo

Background: Differentiated Thyroid Carcinomas (DTC) represent more than 90% of thyroid tumors with good prognosis and long survival. Currently, patients with intermediate/high risk nodule as assessed by cytological staging may undergo surgery. According to ATA 2017 guidelines, all patients presenting thyroid nodules with suspicious ultrasound features (hypoechoic pattern, irregular margins, microcalcifications, etc.) and cytopathology TIR3B, TIR4 or TIR5 according to 2014-SIAP...