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

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

Ongoing projects

The skin-sodium compartment in human hypertension caused by aldosteronism

Salt intake is a major determinant of arterial hypertension, the most prevalent cardiovascular risk factor worldwide. The precise molecular mechanisms whereby Na⁺ retention raises blood pressure remained poorly defined. Experimental studies in animal models demonstrated that skin and muscle tissues can store Na⁺. A translational research program investigating the changes in skin-Na⁺ content before and after adrenalectomy in primary aldosteronism, the paradigm of salt-dependent HT and the most common cause of secondary HT, is currently ongoing.

Hereditary primary hyperparathyroidism

Hereditary primary hyperparathyroidism represents 10% of all primary hyperparathryroidism. Hyperparathyroidism-jaw tumor syndrome 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

Medullary thyroid carcinoma is a rare and aggressive malignancy; it is mainly sporadic, but a hereditary pattern is present in 20–30% of cases. 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, tumor tissue samples and adjacent normal tissue were also collected and analyzed for the molecular expression patterns of clinically relevant genes.

Pubblications

Torresan F, Mian C, Cavedon E, Iacobone M: “Cure and survival of sporadic medullary thyroid carcinoma following systematic preoperative calcitonin screening”. Langenbeck's Archives of Surgery 2019,404(4):411-419.

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, Camozzi V, Mian C, Pennelli G, Pagetta C, Casal Ide E, Masi G, Zovato S, Torresan F. “Long-Term Outcomes of Parathyroidectomy in Hyperparathyroidism-Jaw Tumor Syndrome: Analysis of Five Families with CDC73 Mutations”. World J Surg. 2020;44(2):508-516. 

Torresan F, Rossitto G, Bisogni V, Lerco S, Maiolino G, Cesari M, Zhu R, Iacobone M, Seccia TM; Rossi GP. “Resolution of drug-resistant hypertension by adrenal vein sampling-guided adrenalectomy: a proof-of-concept study”. Clin Sci (Lond) (2020) 134 (11): 1265–1278.

Torresan F, Crimì F, Ceccato F, Zavan F, Barbot M, Lacognata C, Motta R, Armellin C, Scaroni C, Quaia E, Campi C and Iacobone M. “Radiomics: a new tool to differentiate adrenocortical adenoma from carcinoma”. BJS Open. 2021;5(1):zraa061. doi: 10.1093/bjsopen/zraa061.

People involved: 

MAURIZIO IACOBONE, MD, FEBS (Endocrine Surgery)( Associate Professor of Surgery)

Group members:

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