Clinical presentation of sporadic and familial medullary thyroid carcinoma: is there a real difference?

Valeria Tascini; Alessandro Prete; Cristina Romei; Antonio Matrone; Carla Gambale; Valeria Bottici; Laura Agate; Eleonora Molinaro; Rossella Elisei

doi:10.1530/endoabs.99.P586

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Endocrine Abstracts (2024) 99 P586 | DOI: 10.1530/endoabs.99.P586

ECE2024 Poster Presentations Late-Breaking (77 abstracts)

Clinical presentation of sporadic and familial medullary thyroid carcinoma: is there a real difference?

Valeria Tascini ¹ , Alessandro Prete ¹ , Cristina Romei ¹ , Antonio Matrone ¹ , Carla Gambale ¹ , Valeria Bottici ¹ , Laura Agate ¹ , Eleonora Molinaro ¹ & Rossella Elisei ¹

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¹Pisa, Endocrinology Unit, Pisa, Italy

Introduction: Medullary thyroid carcinoma (MTC) is a rare neoplasm that occurs sporadically in 75% (sMTC) and hereditarily in 25% (fMTC) of cases caused by germinal mutations of the RET gene as an autosomal dominant trait. fMTC occurs in the setting of three syndromes: fMTC alone without any other clinical manifestations; and multiple endocrine neoplasia type 2A (MEN2A) and 2B (MEN2B) syndromes. In fMTC, cases are distinguished into index cases (1st clinically detected case) and gene carriers (identified through RET screening). According to this screening, gene carriers have usually a more indolent clinical behavior than index cases. The aim of our study is to compare the clinical presentation of patients affected by sMTC with index cases of fMTC.

Methods: We conducted a retrospective observational study of 674 sMTC and 115 fMTC index case patients referred to the Endocrinology Department of University Hospital of Pisa from 1993 to 2023.

Results: Patients with fMTC were younger compared with patients with sMTC (median age 44 vs 55, P<0.001), with no difference in gender (males 39% vs 44%, P=0.3). The primary tumors of fMTC did not differ in size compared with sMTC (median 1.2 vs 1.4 cm, P=0.3). The prevalence of minimal extrathyroidal extension was higher in fMTC compared to sMTC (37.3% vs 19.1%, P<0.001). The prevalence of tumor with T stage > 2 was significantly higher in fMTC compared with sMTC (21.6% vs 13%, P=0.03). Lymph node metastases were more frequent in patients with fMTC (59% vs 43%, P=0.002), predominantly in the central compartment (59% vs 39%, P=0.005). However, we did not observe any difference in prevalence of distant metastases (fMTC 11.8% vs sMTC 8.9%, P=0.37) and stage IV disease (fMTC 27.5% vs sMTC 28.9%, P=0.82) between the two groups.

Conclusions: The clinical presentation of patients with fMTC appears slightly worse than sMTC, although this difference seems not to be clinically significant considering the similar prevalence of distant metastases and stage IV disease. However, the clinical presentation is approximately 10 years earlier in fMTC compared to sMTC.