Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®)–Health Professional Version

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Changes to This Summary (10/13/2016)

The PDQ cancer information summaries are reviewed regularly and updated as new information becomes available. This section describes the latest changes made to this summary as of the date above.

Multiple Endocrine Neoplasia Type 1 (MEN1)

Added Table 1, MEN1-Associated Duodenopancreatic Neuroendocrine Tumors (cited Norton et al. as reference 19).

Added Table 2, MEN1-Associated Pituitary Tumors.

Added text to state that one large study demonstrated the highest rates of heritability for pituitary, adrenal, and thymic neuroendocrine tumors (NETs) (cited Thevenon et al. as reference 47).

Revised text to state that the timing and extent of surgery for duodenopancreatic NETs are controversial and depend on many factors, including severity of symptoms, extent of disease, functional component, location and necessity of simple enucleation, subtotal or total pancreatectomy, and pancreaticoduodenectomy. Specifically, tumor size has been suggested to advocate surgical resection based on the increased propensity for risk of metastases or recurrence with increased tumor diameter (cited Kishi et al. as reference 66). Unfortunately, there is no specific tumor marker or combination of tumor markers that are predictive of disease-specific mortality (cited Qiu et al as reference 67). Also added text to state that tumor size does seem to influence patient survival, with patients with smaller tumors having increased survival after resection (cited Brunner et al. as reference 71) and with regard to open or laparoscopic approaches, pancreatic laparoscopic surgery appears to be safe and associated with a shorter length of stay and fewer complications in selected patients (cited Drymousis et al. as reference 76).

Added text to state that nonfunctioning NETs smaller than 1.5 cm are not likely to have lymph node metastases (cited Zhang et al. as reference 93).

Multiple Endocrine Neoplasia Type 2 (MEN2)

Added text to state that C-cell hyperplasia is a controversial diagnosis, but most pathologists agree that it is defined as more than seven C-cells per cluster, complete follicles surrounded by C-cells, and C-cells in a distribution beyond normal anatomical location (cited Mete et al. and Wells et al. as references 13 and 14, respectively).

Revised text to state that the familial medullary thyroid carcinoma (FMTC) subtype makes up 5% to 49% of MEN2 cases (cited Romei et al. as reference 74). Also added text to state that whether and how often to screen FMTC patients for pheochromocytoma (PHEO) and hyperparathyroidism are matters of ongoing debate.

Added text to state that some studies demonstrate compelling evidence that RET variants p.Tyr791Phe and p.Ser649Leu are likely benign polymorphisms, based on equal frequencies among cases and healthy controls and co-occurrence with other disease-causing variants that co-segregate with disease in the family (cited Erlic et al. and Toledo et al. as references 192 and 193,respectively). Also added text to state that carriers of these variants should not be treated as having MEN2 syndrome and asymptomatic family members should not be tested for these variants. Comprehensive testing of all hotspot variants in exons 8 and 10–16 may be performed to rule out any other RET pathogenic variants, and more extensive testing of other disease-related genes may be warranted because of a diagnosis of PHEO.

Added text to state that risk-reducing thyroidectomy is the oncologic treatment of choice for patients with MEN2. Managing the central neck, including the lymph nodes and parathyroid glands, requires consideration of patient age, disease burden, and serum calcitonin levels. Selective autotransplantation of parathyroid glands that were devascularized during a prophylactic thyroidectomy and/or central neck clearance will provide equivalent outcomes to removal of all four parathyroid glands. This selective approach also significantly reduces the detrimental outcome of hypoparathyroidism (cited Moley et al. as reference 204).

Familial Pheochromocytoma and Paraganglioma Syndrome

Added text to state that benign tumors are reported to be more sensitive to somatostatin receptor scintigraphy (SRS) than 123I-metaiodobenzylguanidine (MIBG) imaging. Sensitivity is highest for the head and neck region compared with abdomen paragangliomas or PHEOs (91% vs. 40% and 42%, respectively). SRS has been reported to be superior to MIBG in detecting metastatic tumors (95% vs. 23%, respectively). 123I-MIBG, however, is highly sensitive for PHEO (cited Michałowska et al. as reference 23).

This summary is written and maintained by the PDQ Cancer Genetics Editorial Board, which is editorially independent of NCI. The summary reflects an independent review of the literature and does not represent a policy statement of NCI or NIH. More information about summary policies and the role of the PDQ Editorial Boards in maintaining the PDQ summaries can be found on the About This PDQ Summary and PDQ® - NCI's Comprehensive Cancer Database pages.

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