Background: Germline mutations in SDHB gene are associated with the familial paraganglioma (PGL) syndrome that carries the highest malignant potential. Although penetrance is lower than initially described, lack of effective treatments for metastatic PGLs makes screening essential for early tumour detection, surgical removal and improved outcome. However, no consensus exists in relation to timing and mode of screening.
Objective: To assess published data and examine our cohort to produce screening recommendations for children with SDHB defects.
Method: A retrospective review of children with SDHB mutations at Barts Hospital between 1989 and 2014 was undertaken. This cohort includes 21 patients who were either diagnosed with PGLs <18 years, or whose screening started <18 years (family members carrying SDHB mutation).
Results: Within our cohort, seven children had PGLs, with one PGL identified on initial routine screening. This 15 years male was asymptomatic but found to have elevated catecholamines and a large retroperitoneal mass on MR scanning. The youngest two patients (both females) diagnosed with PGLs in our cohort were 10 years. One was successfully treated for an abdominal PGL, but aged 23yr developed metastatic disease. The other had a para-aortic PGL, which was successfully resected but recurred 17 years later with metastases in addition to a renal medullary carcinoma.
Conclusion: We believe that initial clinical screening should be undertaken between the ages of 57. Our adult imaging surveillance includes biennial neck-to-pelvis MRI with abdominal imaging alone annually. Age at which each child enters adult surveillance regime should be determined on an individual basis and for most children this could be considered from 10 years old. Yearly abdominal USS should be considered <10 years if tolerated, but clinician should be aware of its limitations. We found that joint adult/paediatric family clinic works well for families in terms of convenience, anxiety reduction and to tailor screening to the individual child.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology