Searchable abstracts of presentations at key conferences in endocrinology

ea0056gp225 | Thyroid Cancer - Diagnostics & Treatments | ECE2018

Germline mutations in KIF1B gene in two families with familial non-medullary thyroid cancer (FNMTC)

Anon Aida Orois , Porta Mireia Mora , Rabinovich Irene Halperin , Gara Sudheer Kumar , Kebebew Electron , Ambros Josep Oriola

Introduction: Familial non-medullary thyroid cancer(FNMTC) represents 3–9% of thyroid cancer cases. Although the susceptibility genes for syndromic FNMTC are known, most cases of FNMTC are nonsyndromic and the genetic causes are unknown.Patients and methods: We conducted a multicenter study to identify a candidate susceptibility gene for nonsyndromic FNTMC. We collected blood specimens, clinical and pathological data from 38 kindreds with FNMTC (32 ...

ea0049ep868 | Clinical case reports - Pituitary/Adrenal | ECE2017

Clinical case report: MEN-1 syndrome with coincident AIP gen mutation and MEN-1 gen deletion

Gonzalez-Molero Inmaculada , Arnes Juan Antonio Garcia , Oriola Josep , Romero Stella Gonzalez , Almaraz Maria Cruz , Maraver Silvia , Olveira Gabriel , Tinahones Francisco

We present the clinical case of a family with an initial diagnosis of AIP syndrome with AIP mutation and a secondary diagnosis of MEN syndrome associated because of a large MEN-1 gen deletion. A male patient 16 years old was evaluated because of delayed growth and pubertal development. He had headaches, nausea and vomits since seven years old. MRI showed: Large pituitary mass of 47.6×22×47.2 mm that erode the floor of the sella, extending into the left prepontine cis...

ea0056p108 | Clinical case reports - Thyroid/Others | ECE2018

Syndrome carney-stratakis, new mutation report: SDH B: D138Y (c.412>T)

Serrano Ana Ruiz , Ciccia Alessandra Gabillo , Maduena Francisca Martinez , Gonzalez Salome Martinez , Ambros Josep Oriola , Simon-Muela Inmaculada , Ortega Joan Vendrell , Cortes Silvia Naf , Alevras Theodora Michalopoulou , Colet Ana Megia

Introduction: The Carney-Stratakis syndrome (CSS) is an inherited condition caused by germline mutations in succinate dehydrogenase (SDH) subunits B, C or D that predispose to gastric stromal tumors (GIST) and multicentric paragangliomas (PGL). SDH acts as a tumor suppressor gene, and enzyme activity reduction is known to be oncogenic. Since 2002 there has been some scarce reports. We present a new case of CSS associated with a germline unknown significance mutation in exon 4 ...

ea0073oc9.1 | Oral Communications 9: Endocrine-Related Cancer | ECE2021

Thymic neuroendocrine tumor and mortality in MEN 1 patients: the spanish registry

Casteras Anna , Valdés Nuria , Lamas Cristina , Gaztambide Sonia , Paja Fano Miguel , Navarro Elena , Álvarez Escol Cristina , Diego Estrella , Calatayud María , Segura Pedro , Oriola Josep , Spanish group for the study of MEN and PPGL

BackgroundThymic neuroendocrine tumor (THY-NET) accounts for almost 20% of multiple endocrine neoplasia type 1 (MEN1)-associated mortality. Diagnosis at early tumor stage is associated with improved survival.ObjectiveTo study the prevalence, clinical features and prognosis of THY-NET in MEN 1. To describe the overall causes of death among the registered MEN1 patients. To compare and discuss our results with t...

ea0035p515 | Endocrine tumours and neoplasia | ECE2014

Our experience in the evaluation criteria used for the genetic study of patients suspected of being affected by multiple endocrine neoplasia type 1 and mutational spectrum

Oriola Josep , Sitges Antoni , Goday Albert , Martinez S , Villabona Carles , Gomez Jose Manuel , Loidi Lourdes , Salinas Isabel , Puig-Domingo Manel , Gonzalez-Romero E , Garcia-Arnes J A , Lecube Albert , Mesa Jordi , Simo Rafael , Rosell J , Sanchez-Garcia F , Recas Immaculada , Biarnes Josefina , Pizarro Eduarda , Halperin Irene

Introduction: The autosomal dominant multiple endocrine neoplasia type 1 (MEN1), characterized by parathyroid hyperplasia (PH), neuroendocrine digestive tumours (NET) and pituitary adenomas (PA), is due to mutations in the tumor suppressor gene MEN1 encoding a 610-amino acid protein, menin. Guidelines recommend MEN1 mutational analysis in index cases with two or more MEN1-associated tumours, in first-degree relatives of mutation carriers and when clinical dat...