ESPN 51th Annual Meeting

ESPN 2018


 
National guidelines for the clinical assessment, diagnosis, treatment and follow-up of children and young people (CYP) with phaeochromocytoma (PCC) and paraganglioma (PGL)
STEPHEN MARKS 1 HARSHINI KATUGAMPOLA 1 SAMUEL QUEK 2 PRATEEK YADAV 2 HELEN SPOUDEAS 1 BARNEY HARRISON 3 UK PAEDIATRIC PHAEOCHROMOCYTOMA AND PARAGANGLIOMA GUIDELINE DEVELOPMENT GROUP 1

1- GREAT ORMOND STREET HOSPITAL FOR CHILDREN NHS FOUNDATION TRUST
2- UNIVERSITY COLLEGE LONDON
3- SHEFFIELD TEACHING HOSPITALS NHS FOUNDATION TRUST
 
Introduction:

PCC and PGL are rare in CYP.  National children’s registry data reveal an annual incidence of 0.2 and 0.3 per million in 5-9 and 10-14 year age groups respectively.  Almost all result from a genetic predisposition, can present with non-specific symptoms, and represent a significant management challenge.

Material and methods:

AGREEII framework utilised with 113 PICO clinical questions formulated by a specialist GDG, and systematic literature searches conducted via Ovid MEDLINE and Cochrane Library databases identifying 526 articles, of which 397 were reviewed using GRADE.  Where evidence was lacking or conflicting, a two-stage international Delphi consensus process was conducted to make recommendations.

Results:

39 recommendations on clinical assessment, investigations, medical/surgical management and long-term follow-up of survivors are made; 21 were sent to consensus and achieved agreement.  Importantly, the GDG recommend CYP with PCC/PGL are managed in a specialist centre, linked to tertiary paediatric oncology, by a designated, age-appropriate multidisciplinary team and experienced lead clinician.  Clinical assessment and a three-generation family history should be targeted to identify genetically determined PCC/PGL (Von Hippel Lindau (VHL), familial paraganglioma (mutations in succinate dehydrogenase genes, SDHx), Multiple Endocrine Neoplasia 2, Neurofibromatosis 1), and genetic testing offered for all CYP with PCC/PGL after appropriate counselling.  For CYP who undergo bilateral/completion adrenalectomy or cortical sparing surgery, peri-operative steroid replacement should be led by a nominated endocrinologist.  Subspecialist including critical care input ensures timely identification of post-operative hypertension / hypotension / hypoglycaemia, which should prompt exclusion of hypocortisolism / adrenal crisis and commencement of stress-doses of steroid.  CYP who have undergone adrenocortical sparing surgery should continue maintenance steroid replacement until adrenocortical reserve is re-tested postoperatively.  Patients with SDHB mutations and VHL have a high risk of recurrent disease and malignancy, however all CYP diagnosed with PCC/PGL should have life-long follow up because of the propensity for new events.

Conclusions:

These guidelines provide the first evidence- and consensus-based national recommendations for the management of PCC/PGL in CYP, and highlight a need for further audit and research in this rare, but potentially serious, condition.  Their implementation should improve the quality of care and long-term health-related survival of CYP with PCC/PGL.