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  • Rare neuroendocrine neoplasms represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and phaeochromocytomas. Can be either hypersecreting (catecholamines) or non-secreting. There are no validated markers of malignancy (rate around 15%); the only criterion is the presence of metastases. Hereditary disease is caused by mutations in the SDHD, SDHC, SDHB, SDHA and SDHAF2 (or SDH5) genes (11q23, 1q21, 1p36.1-p35, 5p15 and 11q31.1 respectively). Transmission is autosomal dominant. The disease may be fatal, but some have lived with malignant PCC/PGL for 20 years or more.
  • Rare neuroendocrine neoplasms represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas. Can be either hypersecreting (catecholamines) or non-secreting. There are no validated markers of malignancy (rate around 15%); the only criterion is the presence of metastases. Hereditary disease is caused by mutations in the SDHD, SDHC, SDHB, SDHA and SDHAF2 (or SDH5) genes (11q23, 1q21, 1p36.1-p35, 5p15 and 11q31.1 respectively). Transmission is autosomal dominant. The disease may be fatal, but some have lived with malignant PCC/PGL for 20 years or more.
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