Recent Advances in Diagnostics and Therapeutics for Paediatric Thyroid Cancer

Abstract

Purpose of review: Paediatric thyroid cancer management traditionally relied on extrapolation from adult data and, despite good survival outcomes, often involved extensive surgical approaches and radioactive iodine (RAI) therapy with potentially life-long complications. Increasing understanding of paediatric diagnostic techniques, molecular tumour drivers and targeted therapies will allow a more nuanced, disease-specific comprehensive model of care. This review summarises recent developments in paediatric thyroid cancer biology, diagnosis and models of care.

Methods: Review of relevant literature from the last 5 years to inform a narrative summary by a multidisciplinary team of clinician experts in paediatric thyroid cancer management.

Findings: Standardised risk scoring systems will likely improve the objectivity and accuracy of paediatric thyroid nodule risk stratification on ultrasound, but further studies are needed to validate these. Identification of somatic and germline gene variants is playing a rapidly increasing role in paediatric thyroid cancer diagnosis and planning of surgical approaches and neoadjuvant and adjuvant therapies. There is growing recognition that lobectomy may achieve comparable outcomes, with reduced risk of complications, to total thyroidectomy in patients with low-risk disease. Molecularly targeted therapies are now available for the management of advanced disease as an adjuvant, and likely neo-adjuvant, therapy for medical debulking of large tumours and resensitisation of RAI-resistant disease.

Conclusions: The management pathways for paediatric thyroid cancer are rapidly evolving due to the increasing availability of paediatric-specific data. As management options become more complex, interdisciplinary collaboration and shared decision-making are ever more important.

Keywords: molecularly targeted therapy; multidisciplinary; ultrasound.

FIGURE 1

Frequency of point mutations and gene fusions in four paediatric studies compared with adult data from The Cancer Genome Atlas (TCGA). Note differing methodologies between studies. Citations: Pekova et al. [35], Alzahrani et al. [36], Stosic et al. [37], Franco et al. [38] and TCGA [39].