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Luciana Puleo, Laura Agate, Irene Bargellini, Giuseppe Boni, Paolo Piaggi, Claudio Traino, Tommaso Depalo, Giulia Lorenzoni, Francesca Bianchi, Duccio Volterrani, Sandra Brogioni, Valeria Bottici, Maurizia Rossana Brunetto, Barbara Coco, Eleonora Molinaro, and Rossella Elisei

Introduction Medullary thyroid cancer (MTC) is a neuroendocrine tumor arising from parafollicular or calcitonin-producing C cells that retain the biochemical and pathological features of the cells from which it derives. MTC accounts for 3

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M. Schlumberger, L. Bastholt, H. Dralle, B. Jarzab, F. Pacini, and J.W.A. Smit

Methods of Development of Evidence-Based Guidelines The European Thyroid Association (ETA) Executive Committee launched a taskforce to produce guidelines on the treatment of metastatic medullary thyroid cancer (MTC). A chairperson was selected

Open access

Camille Buffet, Sophie Leboulleux, Françoise Kraeber-Bodéré, Caroline Bodet-Milin, Laure Cabanes, Anthony Dohan, Pascal Leprince, Martin Schlumberger, Olivier Huillard, and Lionel Groussin

from medullary thyroid cancers (MTC) are uncommon. Their frequency in large autopsy series in patients with thyroid cancers is low, between 0 and 5% [ 1 - 5 ]. Given the rarity of this metastatic location, the outcome remains unclear. The average length

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R. Elisei, M. Alevizaki, B. Conte-Devolx, K. Frank-Raue, V. Leite, and G.R. Williams

Introduction Several guidelines have already been published on the diagnosis, management, and treatment of medullary thyroid cancer (MTC) [ 1 , 2 , 3 , 4 ], but there are no guidelines devoted specifically to RET genetic screening in

Free access

Lars Bastholt, Michael C. Kreissl, Dagmar Führer, Ana L. Maia, Laura D. Locati, Léa Maciel, Yi Wu, Kevin N. Heller, Alan Webster, and Rossella Elisei

Introduction Medullary thyroid cancer (MTC) is a malignancy of the parafollicular C cells of the thyroid gland, and it accounts for an estimated 4% of thyroid cancers [ 1 , 2 ]. MTC can only be cured by surgery and, until recently, the

Open access

Simona Censi, Jacopo Manso, Teresa Benvenuti, Ilaria Piva, Maurizio Iacobone, Alberto Mondin, Francesca Torresan, Daniela Basso, Gino Crivellari, Stefania Zovato, and Caterina Mian

Introduction Medullary thyroid cancer (MTC) originates from parafollicular C-cells and represents 2% of all thyroid malignancies and 0.4–1.4% of all thyroid nodules ( 1 ). MTC is sporadic in 75–80% of cases or manifests as a hereditary tumor

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Laura Moss, Catrin Cox, Jonathan Wadsley, Kate Newbold, Mark W.J. Strachan, Maralyn Druce, Neil Tolley, Kathryn Graham, Sarah Jefferies, Lydia Fresco, Suganya Sivabalasingham, Alistair Balfour, and Chris Hurt

Introduction Medullary thyroid cancer (MTC) is a rare variant of thyroid cancer with different aetiology, presentation, treatment and symptoms compared to the more common differentiated thyroid cancers (DTC). Based on Cancer Research UK (CRUK

Open access

Stéphane Bardet, Renaud Ciappuccini, Livia Lamartina, and Sophie Leboulleux


Serum calcitonin (CT) and carcinoembryonic antigen (CEA) are valuable tumour markers in patients with medullary thyroid carcinoma (MTC). Both markers most often evolve in parallel after treatment. Selpercatinib (LOXO-292) is a highly selective RET kinase inhibitor indicated in advanced RET-mutant MTC patients.

Cases presentation

In this study, we report two observations of RET-mutant progressive metastatic and symptomatic MTC patients who were treated with selpercatinib. Patient 1, a 61-year-old man, presented dyspnoea and diarrhoea at selpercatinib initiation with large neck lymph nodes and lung metastases. Patient 2, a 76-year-old man, had acute discomfort with flush and diarrhoea, with small but diffuse bone and liver disease. Both patients had an objective tumour response with rapid clinical improvement and RECIST 1.1 response (−90%) in patient 1. A rapid dramatic decrease in CT level was observed in both patients (−99% in both patients), while CEA levels gradually and sustainably increased after selpercatinib initiation (+207% at cycle 15 in patient 1 and + 835% at cycle 14 in patient 2). In both patients, 18FDG PET/CT did not show any abnormal uptake that could explain the CEA increase. Colonoscopy and oesogastric fibroscopy showed colonic polyposis with mild oesophagitis and gastritis in patient 1 and were normal in patient 2.


These observations show an unusual and lasting increase in serum CEA in two MTC patients who exhibited an objective tumour response to selpercatinib. The mechanism behind this unexpected rise in CEA level remains unknown. The frequency of this evolving profile will be determined in further phase III studies.

Open access

Marine Sitbon, Porhuoy Chou, Seydou Bengaly, Brigitte Poirot, Marie Laloi-Michelin, Laure Deville, Atanas Pachev, Ahouefa Kowo-Bille, Clement Dumont, and Cécile N Chougnet

metastatic medullary thyroid cancer. Case report/case presentation A woman, born in 1956, was diagnosed with sporadic MTC in 2005, for which she underwent complete thyroidectomy with bilateral central compartment and lateral compartment neck

Open access

Francesca Orsolini, Alessandro Prete, Pierpaolo Falcetta, Domenico Canale, Fulvio Basolo, Greta Alì, Francesca Manassero, Paolo Vitti, Rossella Elisei, and Eleonora Molinaro

Oncology 2010 22 475 – 485 . ( ) 3 Viola D Elisei R . Management of medullary thyroid cancer . Endocrinology and Metabolism Clinics of North America 2019 48 285 – 301 . (