Revised text to state that familial nonmedullary thyroid cancer (FNMTC) is one of several hereditary syndromes involving the endocrine or neuroendocrine glands covered in this summary.
Added text to state that FNMTC is a polygenic disease with no single locus responsible for the majority of cases or easily identifiable phenotype and is likely modified by multiple low-penetrance alleles and environmental factors.
Added text to state that thyroid cancers associated with FNMTC are managed surgically, commonly with a total thyroidectomy, which requires that patients receive lifelong thyroid hormone replacement therapy.
Added text to state that FNMTC is thought to account for 5% to 10% of all differentiated thyroid cancer cases; and, with the exception of a few rare genetic syndromes with nonmedullary thyroid cancer as a minor component, most FNMTC is nonsyndromic, and the underlying genetic predisposition is unclear (cited Stoffer et al., Loh, and Lupoli et al. as references 5, 6, and 7, respectively).
Added text about parathyroid tumors to state that if 3.5 or more glands are removed during subtotal parathyroidectomy, the rate of persistent disease is 5% to 6%. Preoperative imaging is not sufficiently reliable to justify unilateral exploration, with 86% of patients having enlarged contralateral parathyroid tumors that were missed; 50% of the remaining patients had the largest parathyroid gland identified intraoperatively on the contralateral side (cited Nilubol et al. as reference 65).
Added text about combining tracer accumulation with anatomic imaging in patients with neuroendocrine tumors (NETs), which improves localization of tumors. Gallium Ga 68-DOTATATE positron emission tomography–computed tomography demonstrates excellent sensitivity in mapping duodenopancreatic NET disease and appears to be superior to standard somatostatin octreotide, especially for lesions smaller than 10 mm (cited Morgat et al. as reference 79).
Added text about a retrospective review of 55 patients younger than 21 years who had paraganglioma (PGL)/pheochromocytoma (PHEO) and were referred to the National Cancer Institute; 80% of patients had a germline pathogenic variant (cited Babic et al. as reference 37).
Revised text to state that multiple series showed a risk of 71% for a head and neck tumor in SDHD carriers, as opposed to a 27% to 29% risk in SDHB carriers.
Added text about another study that estimated lifetime PGL/PHEO penetrance to be 50% in SDHB carriers (cited Jochmanova et al. as reference 57); there is some evidence that the penetrance may be lower in females than in males.
Added text to state that consideration of preoperative imaging in patients with PGL/PHEO is warranted if a pathogenic variant has been identified, as it may alter the surgical plan and approach.
Revised text about lifelong thyroid hormone replacement therapy with levothyroxine at approximately 1.6 µg/kg/day, which is then titrated to reach an appropriate level of thyroid-stimulating hormone (TSH) suppression (cited Jin et al. and Mistry et al. as references 77 and 78, respectively); the degree of TSH suppression is also individualized on the basis of the patient’s disease status, risk of recurrence, an individual's risk of cardiovascular and bone complications with aggressive TSH suppression, and clinicopathological tumor features.
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