The Endocrine Surgery Research Group is currently involved with a variety of projects, focused around different research areas, with particular attention on hereditary endocrine diseases. Research programs are focused on hereditary primary hyperparathyroidism, primary aldosteronism, hereditary pheochromocytoma/paraganglioma syndrome and medullary thyroid carcinoma.

Translational research programs are conducted in close collaboration with the clinical Units of Hypertension and Endocrinology, that through a multidisciplinary approach allow to integrate biomarkers, imaging, and insights from preclinical studies into the design of innovative clinical trials.

Ongoing projects

Based on the observations that mice lacking the core clock components Cryptochrome-1 (Cry1) and Cry-2 (Cry-null mice) show salt-sensitive hypertension due to abnormally high synthesis of aldosterone, a translational research program investigating the expression and the role of clock genes in human adrenal function and aldosterone production is currently ongoing.

Hereditary primary hyperparathyroidism (HPT) represents 10% of all primary hyperparathryroidism. Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a variant of this phenotype, caused by mutations in the CDC73 oncosuppressor gene, encoding for a protein named parafibromin. Discovering novel CDC73 variants of unknown significance and their pathogenicity, the evaluation of parafibromin and parafibromin transcriptional targets level, subcellular localization, cell proliferation, apoptosis and activation of DNA repair mechanisms performing “in vitro” experiments, will improve the knowledge of parafibromin function, allowing a more tailored surgical approach and identification of new therapeutic targets.

Medullary thyroid carcinoma (MTC) is a rare and aggressive malignancy. MTC is mainly sporadic, but a hereditary pattern is present in 20–30% of cases, transmitted as an autosomal dominant trait and caused by mutations in the RET proto-oncogene. The early diagnosis of hereditary MTC can be reached using the RET genetic screening, that allow in many cases a pre-neoplastic disease, so that a prophylactic thyroidectomy can be performed achieving a definitive cure. A general objective of the Endocrine Unit mission is to collect data from patients undergoing surgery for medullary thyroid carcinoma to gather relevant demographics, clinical and genetic features, extent of surgery, pathology finding, in order to create an extensive database including also follow-up data. Moreover, tumour tissue samples and adjacent normal tissue were also collected and analyzed for the molecular expression patterns of clinically relevant genes (mainly RET and RAS).

Pubblications

Torresan F, Cavedon E, Mian C, Iacobone M. Long-Term Outcome After Surgery for Medullary Thyroid Carcinoma: A Single-Center Experience. World J Surg. 2018 Feb;42(2):367-375.

Iacobone M, Carnaille B, Palazzo FF, Vriens M. Hereditary hyperparathyroidism--a consensus report of the European Society of Endocrine Surgeons (ESES). Langenbecks Arch Surg. 2015 Dec;400(8):867-86.

Iacobone M, Citton M, Scarpa M, Viel G, Boscaro M, Nitti D. Systematic review of surgical treatment of subclinical Cushing's syndrome. Br J Surg. 2015 Mar;102(4):318-30.

Citton M, Viel G, Rossi GP, Mantero F, Nitti D, Iacobone M. Outcome of surgical treatment of primary aldosteronism. Langenbecks Arch Surg. 2015

Iacobone M, Citton M, Viel G, Boetto R, Bonadio I, Mondi I, Tropea S, Nitti D, Favia G. Adrenalectomy may improve cardiovascular and metabolic impairment and ameliorate quality of life in patients with adrenal incidentalomas and subclinical Cushing's syndrome. Surgery. 2012

people involved:

MAURIZIO IACOBONE, ASSOCIATE PROFESSOR OF SURGERY

Group menbers:

FRANCESCA TORRESAN, MD (PhD STUDENT)
COSTANTINO PAGETTA, MD (Surgeon, Azienda Ospedaliera di Padova)
ERIC CASAL IDE, MD, PhD(Surgeon, Azienda Ospedaliera di Padova)