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46th Annual Meeting of the European Thyroid Association (ETA) 2024

Poster Presentations

Medullary thyroid cancer-2

ea0101ps2-13-01 | Medullary thyroid cancer-2 | ETA2024

Clinical and molecular analysis of a MEN2A kindred harboring the rare RET variant p.ser904phe

Oliboni Scapineli Jessica , Limana Guerra Giulia , Viapiana Camelier Marli , Vaz Ferreira Carla , Cunha Ribeiro Goncalves Iracema , Luiza Maia Ana

Introduction: Medullary thyroid carcinoma (MTC) is a rare malignant tumor that originates from the thyroid C cells. MTC may occur sporadically (75%) or as part of cancer syndrome (hMTC). hMTC is associated with germline mutations in the RET proto-oncogene. The pathogenic variants at codon 634 were the most prevalent (30-50%). Other pathogenic variants were found in less than 10% of MEN2A subjects. The rare RET variant p. Ser904Phe has been reported in only 3 kindreds worldwide...

ea0101ps2-13-02 | Medullary thyroid cancer-2 | ETA2024

Basal calcitonin needs the help of stimulation test for the diagnosis of sporadic medullary thyroid cancer (MTC) only in selected cases

Faranda Alessio , Prete Alessandro , Gambale Carla , Cappagli Virginia , Bottici Valeria , Molinaro Eleonora , Materazzi Gabriele , Elisei Rossella , Matrone Antonio

Background: Calcitonin (CTN) is the main marker for the diagnosis and follow-up of patients with MTC. Its value, either basal (bCTN) or stimulated (sCTN) after calcium stimulation test (Ca-Test) is used in clinical practice for the diagnosis of patients with suspicious MTC. The aim of our study is to evaluate the performance of bCTN and sCTN in patients undergoing surgery with suspicion of sporadic MTC.Methods: We evaluated 158 consecutive patients (Jan ...

ea0101ps2-13-03 | Medullary thyroid cancer-2 | ETA2024

Role of procalcitonin in unmasking false hypercalcitoninemia

Colapinto Alessandra , Basso Cristina , Vicennati Valentina , Pagotto Uberto , De Iasio Rosaria , Repaci Andrea

Introduction: Calcitonin (Ct) is the most sensitive serological marker of medullary thyroid carcinoma (MTC). Its assay however is plagued by numerous interferences with consequent high risk of false diagnoses and unnecessary thyroidectomy. Numerous studies have been conducted to identify potential alternative MTC serum markers, among which the most promising one is procalcitonin (proCt). This work aims to present the possible use of proCt in unmasking cases of false hypercalci...

ea0101ps2-13-04 | Medullary thyroid cancer-2 | ETA2024

Sporadic medullary thyroid carcinoma: about 17 cases

Braham Rim , Amri Ameni , Gharsalli Jihene , Dhaha Mohamed , Jbali Souhail , Dhembri Sawsen , Kedous Skander

Purpose: To Study the clinical, paraclinical and therapeutic features of medullary thyroid carcinomas (MTCs)Methods: Retrospective study of 17 patients treated for MTC over a period of 6 years [2016-2022]Results: The mean age was 52.6 years and Sex-ratio was 0.88. Clinically, the thyroid nodule was hard (5cases) fixed (2cases) associated with adenopathy in 6 cases and recurrent paralysis in 4 cases. Ultrasound showed nodules classi...

ea0101ps2-13-05 | Medullary thyroid cancer-2 | ETA2024

Molecular characterization of circulating tumor cells (CTCS) in sporadic medullary thyroid carcinoma (SPMTC) patients

Simeakis George , Romei Cristina , Lagopodi Elina , Ciampi Raffaele , Saltiki Katerina , Ramone Teresa , Konstantoulakis Pantelis , Markou Athina , Alevizaki Maria , Elisei Rossella , Lianidou Evi

Objectives: Distant metastases (DM) and/or biochemical persistent disease (BPD) in MTC, adversely affect disease prognosis. Calcitonin and CEA doubling-times (DTs) are the main prognostic indicators for disease progression. Liquid biopsy based on CTCs enrichment and characterization seems to be an intriguing non-invasive tool providing information about tumor biology and molecular identity. The aim of this study was the molecular characterization of CTCs in spMTC patients with...

ea0101ps2-13-06 | Medullary thyroid cancer-2 | ETA2024

The impact of preoperative calcitonin screening on the prognosis of patients with medullary thyroid cancer: a retrospective multicenter cohort study

Yingtong Hou , Yu Yang , Yihao Liu

Objectives: There is still controversy in different guidelines regarding the necessity of routine preoperative calcitonin (Ctn) testing in medullary thyroid cancer (MTC). The impact of Ctn screening on surgical decision and clinical outcomes remains debated.Methods: This retrospective multicenter-cohort study involved 149 MTC patients from 6 centers between 2013 to 2023. Clinical characteristics, surgical procedure and clinical outcomes were compared bet...

ea0101ps2-13-07 | Medullary thyroid cancer-2 | ETA2024

Unraveling the prevalence and clinical behavior or sporadic apparently non-invasive medullary thyroid carcinoma

Matrone Antonio , Prete Alessandro , Gambale Carla , Ramone Teresa , Cappagli Virginia , Bottici Valeria , Romei Cristina , Ciampi Raffaele , Elisei Rossella

Background: Medullary thyroid carcinoma (MTC) is a malignant tumor originating from C-cells producing calcitonin (CTN). Most of the MTC are sporadic and can potentially metastasize to lymph nodes and distant sites. High pre-operative CTN values and larger tumor dimension are usually associated with metastatic disease. However, anecdotal cases of large sporadic MTC with high pre-operative CTN values, without lymph nodes metastases, and completely cured after surgery have been d...

ea0101ps2-13-08 | Medullary thyroid cancer-2 | ETA2024

Usefulness of extensive germline ret testing in apparently sporadic medullary thyroid cancer

Stanescu Laura , Muresan Andrei , Violeta Schipor Sorina , Dobrescu Ruxandra , Baetu Mara , Badiu Corin

Introduction: Medullary thyroid carcinoma (MTC) is a rare neuroendocrine tumor that originates from the parafollicular thyroid cells (C cells); MTC occurs as both a hereditary disease (25% of all cases), when MTC in a manifestation of multiple endocrine neoplasia type 2 or 3 (MEN 2/3) and as sporadic disease. The hereditary type is a consequence of germline mutation in the rearranged during transfection (RET) proto-oncogene, which can undergo oncogenic activation through both ...

ea0101ps2-13-09 | Medullary thyroid cancer-2 | ETA2024

Index cases of familial medullary thyroid carcinoma show different clinical presentation and outcome compared to sporadic cases

Tascini Valeria , Prete Alessandro , Matrone Antonio , Gambale Carla , Bottici Valeria , Cappagli Virginia , Romei Cristina , Molinaro Eleonora , Elisei Rossella

Objectives: Medullary thyroid carcinoma (MTC) is a rare neoplasm that occurs in sporadic (75%) (sMTC) or familial (25%) (fMTC) form, the latter caused by germinal mutations of the RET gene. In fMTC, cases can be distinguished into index cases, the first case who were diagnosed in a specific family, then apparently sporadic at the time of surgery, and gene carriers identified through RET screening starting from the index case. The aim of this study was to eval...

ea0101ps2-13-10 | Medullary thyroid cancer-2 | ETA2024

Pathological and molecular characterization of peritumoral desmoplasia in medullary thyroid carcinoma

Contarino Andrea , Lopez Gianluca , Bughetti Chiara , Iofrida Elisabetta , Dolci Alessia , Mantovani Giovanna

Background: Medullary thyroid carcinoma (MTC) has a high predisposition to neck lymph node involvement, which correlates with worse outcome. Peritumoral stromal desmoplasia, defined as the presence of a newly formed stroma surrounding tumor cells, is a strong predictor of lymph node metastases in MTC.Objective: The main purpose of the present study is to characterize peritumoral stromal desmoplasia in MTC, through the identification of other associated h...