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Open access

Nicola Tufton, Lucy Shapiro, Anju Sahdev, Ajith V Kumar, Lee Martin, William M Drake, Scott A Akker and Helen L Storr


Phaeochromocytomas (PCC) and paragangliomas (PGL) are rare in children. A large proportion of these are now understood to be due to underlying germline mutations. Here we focus on succinate dehydrogenase subunit B (SDHB) gene mutation carriers as these tumours carry a high risk of malignant transformation. There remains no current consensus with respect to optimal surveillance for asymptomatic carriers and those in whom the presenting tumour has been resected.


We undertook a retrospective analysis of longitudinal clinical data of all children and adolescents with SDHB mutations followed up in a single UK tertiary referral centre. This included index cases that pre-dated the introduction of surveillance screening and asymptomatic carriers identified through cascade genetic testing. We also conducted a literature review to inform a suggested surveillance protocol for children and adolescents harbouring SDHB mutations.


Clinical outcomes of a total of 38 children are presented: 8 index cases and 30 mutation-positive asymptomatic carriers with 175 patient years of follow-up data. Three of the eight index cases developed metachronous disease and two developed metastatic disease. Of the 30 asymptomatic carriers, 3 were found to have PGLs on surveillance screening.


Surveillance screening was well tolerated in our paediatric cohort and asymptomatic paediatric subjects. Screening can identify tumours before they become secretory and/or symptomatic, thereby facilitating surgical resection and reducing the chance of distant spread. We propose a regular screening protocol commencing at age 5 years in this at-risk cohort of patients.

Open access

Eugenie Lim, Shanty Shah, Mona Waterhouse, Scott Akker, William Drake, Nick Plowman, Dan Berney, Polly Richards, Ashok Adams, Ewa Nowosinska, Carmel Brennan and Maralyn Druce

Context: Differentiated thyroid cancer (DTC) is usually treated by thyroidectomy followed by radioiodine ablation and generally has a good prognosis. It may now be possible to limit the amount of treatment without impacting on efficacy. It is not known whether coexistent thyroiditis impacts on radioiodine uptake or on its potential efficacy but this could provide a rationale for therapeutic modifications.

Design: Retrospective cohort study of radioiodine uptake on imaging after radioiodine ablation for differentiated thyroid cancer in patients with and without concurrent thyroiditis.

Patients: All patients with DTC treated with radioiodine ablation after thyroidectomy in a single centre, 2012-2015.

Results: 135 patients with available histopathology results were included. Of these, 98 received 1100 MBq. Of this 98, 35 had thyroiditis on histopathology and 13 (37.1%) had low or no iodine uptake on post ablation scan as judged by a nuclear medicine specialist blinded to the presence or absence of thyroiditis. Of the 63 without thyroiditis, 0 had low or no uptake (p<0.0001). 37 patients received 3000 MBq ablation of whom 15 had thyroiditis and 5 (33.3%) had low or not uptake compared to none of the 22 without thyroiditis (p=0.008).

Conclusions: Concurrent thyroiditis may negatively impact on the uptake of radioactive iodine for the treatment of differentiated thyroid cancer. Given the already good-prognosis in this group adopting a modified approach to this step in therapy may be indicated. Large longitudinal studies would be required to determine if this has a measurable impact on mortality from this disease.