Hurthle cell carcinoma in childhood: A retrospective analysis of five cases and review of pediatric literature

Abstract

Background the available studies on Hurthle cell carcinoma (HCC) in pediatric age are scarce and based on isolated case reports. Aims of the present study were to review the available pediatric literature on HCC (2000‐2019), to describe the cohort of children with this cancer histotype, and to estimate its relative prevalence in pediatric age. Procedure We retrospectively reconstructed an HCC course in five patients < 19 years who were identified in our departments during the period 2000‐2019, and we reviewed the available pediatric studies on this differentiated thyroid cancer (DTC) variant. Results HCC occurred with a relative prevalence of 5.8% at a median chronological age of 12.5 years. None of HCC patients exhibited, at diagnosis, thyroid dysfunction, extensive lateral neck disease, or distant metastases, and all showed a persistent remission over time. Three patients showed, at diagnosis, antecedents of other diseases (Hashimoto's thyroiditis, neurofibromatosis type 1, and osteosarcoma). Conclusions (1) In childhood, the relative prevalence of HCC among different thyroid cancer histotypes is 5.8%, that is close to the one previously reported both in the general population and in other less numerous children's cohorts; (2) HCC may develop even early, at the age of 7; (3) in childhood, HCC does not seem to have a more aggressive behavior when compared with other DTC histotypes; (4) antecedents of other diseases are not infrequent in the history of children with HCC.

Intratumoral Heterogeneity in Differentiated Thyroid Tumors: An Intriguing Reappraisal in the Era of Personalized Medicine

“…The new WHO classification distinguishes benign and malignant HCTs on the basis of capsular and vascular invasion ( Figure 4 B), similarly to FTCs [ 73 ]. Although believed to have a poorer prognosis compared to FTCs, it was demonstrated that Hürthle cell cancer has not higher rates of recurrence and does not concentrate less radioiodine [ 74 , 75 , 76 ]. Nevertheless, it has been reported that somatic genomic alterations in malignant HCTs are represented by Mucosal Vascular Address in Cell Adhesion Molecule 1 (MADCAM-1) (20%), EIF1AX (11%), DAXX, PT53 (7%) and Neurofibromatosis type 1 (NF1) (7%) mutations, while no BRAF mutations and a lower rate of NRAS (9%) mutation are encountered in comparison to FTC cases [ 77 , 78 , 79 ] ( Table 2 ).…”