Searchable abstracts of presentations at key conferences in endocrinology

ea0056gp242 | Thyroid Cancer - Translational | ECE2018

New markers of follicular thyroid cancer found with wide-panel next-generation sequencing

Borowczyk Martyna , Szczepanek-Parulska Ewelina , Debicki Szymon , Budny Bartlomiej , Janicka-Jedynska Malgorzata , Wrotkowska Elzbieta , Majchrzycka Blanka , Ziemnicka Katarzyna , Ruchala Marek

Introduction: Thyroid nodules may be detected in up to 67% of the adult population and constitute big diagnostic challenge. Presurgical differentiation of follicular lesions between follicular adenoma (FA) and follicular thyroid carcinoma (FTC) is particularly difficult. Commercially available gene panels cover only a few, selected mutations to help in discrimination between FA and FTC. The aim of this study was to comprehensively assess the genetic background of thyroid folli...

ea0056p1185 | Thyroid cancer | ECE2018

First report of c.1683A>G FLT3 mutation found in the follicular thyroid cancer

Borowczyk Martyna , Szczepanek-Parulska Ewelina , Debicki Szymon , Budny Bartlomiej , Janicka-Jedynska Malgorzata , Wrotkowska Elzbieta , Majchrzycka Blanka , Ziemnicka Katarzyna , Ruchala Marek

Introduction: The number of thyroid cancer diagnosis has increased worldwide. However, its diagnosis, particularly in a case of follicular cancer (FTC), may be challenging. New markers of malignancy are intensively searched for.Case description: A 29-year-old female was referred for subtotal thyroidectomy in 2006 due to a nodule in the right lobe. The histopathological examination revealed follicular adenoma (FA). During endocrinological follow-up, in 20...

ea0035p338 | Developmental Endocrinology | ECE2014

Genome-wide survey for clinically relevant structural abnormalities contributing to pathogenesis of combined pituitary hormone deficiency (CPHD) with childhood onset.

Budny Bartlomiej , Rydzanicz Malgorzata , Szymczak Klaudia , Szkudlarek Malgorzata , Wolinski Kosma , Wrotkowska Elzbieta , Baszko-Blaszyk Daria , Goleb Monika , Bednarczuk Tomasz , Ambroziak Urszula , Niedziela Marek , Obara-Moszynska Monika , Rabska Barbara , Derebecka Natalia , Bluijssen Hans , Wesoly Joanna , Ruchala Marek , Ziemnicka Katarzyna

Introduction: Combined pituitary hormone deficiency (CPHD) results in deficit of growth hormone and coexisting failure of synthesis or excretion at least another pituitary hormone. Transcription factors controlling expression of genes required for pituitary organogenesis are orchestrating entire development process and certain cell lineages differentiation, contributing therefore significantly to CPHD pathogenesis with childhood onset.Aims: The purpose o...