Publications by authors named "Jean-Pierre L Bayley"
Head and neck paragangliomas are slow growing and highly vascular neuroendocrine tumors. It is currently assumed that variants exclusively cause benign and often multicentric head and neck paragangliomas. Here, we present a patient diagnosed with multiple -linked head and neck paragangliomas who in addition developed paraganglioma metastases to the lung and spine and a primary or metastatic paraganglioma in the head of the pancreas.
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- Germline mutations in the SDHB gene increase the risk of developing paragangliomas, and this study investigates the cancer risk (penetrance) in a large family with such mutations.
- After screening 19 family members for SDHB mutations, 14 additional carriers were found, and while three refused clinical checks, 11 agreed to screening.
- The results indicated that only three out of fifteen mutation carriers had paragangliomas, leading to a lower-than-expected penetrance estimate of 26% at 48 years of age in this family.