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Asymptomatic children with multiple endocrine neoplasia type 1 mutations may harbor nonfunctioning pancreatic neuroendocrine tumors.
J Clin Endocrinol Metab. 2009 Oct; 94(10):3640-6.JC

Abstract

CONTEXT

Multiple endocrine neoplasia type 1 (MEN1) is characterized by the occurrence of parathyroid, pituitary, and pancreatic tumors. MEN1, an autosomal dominant disorder, has a high degree of penetrance, such that more than 95% of patients develop clinical manifestations by the fifth decade, although this is lower at approximately 50% by age 20 yr. However, the lower penetrance in the younger group, which is based on detecting hormone-secreting tumors, may be an underestimate because patients may have nonfunctioning tumors and be asymptomatic.

OBJECTIVE

The aim of the study was to evaluate the occurrence of nonfunctioning pancreatic neuroendocrine tumors in asymptomatic children with MEN1.

PATIENTS

Twelve asymptomatic Northern European children, aged 6 to 16 yr, who were known to have MEN1 mutations were studied.

RESULTS

Two asymptomatic children, who were aged 12 and 14 yr, had normal plasma fasting gastrointestinal hormones and were found to have nonfunctioning pancreatic neuroendocrine tumors that were more than 2 cm in size. Surgery and immunostaining revealed that the tumors did not have significant expression of gastrointestinal hormones but did contain chromogranin A and synaptophysin, features consistent with those of nonfunctioning pancreatic neuroendocrine tumors. The tumors had a loss of menin expression. The 14 yr old also had primary hyperparathyroidism and a microprolactinoma, and the 12 yr old had a nonfunctioning pituitary microadenoma. Three other children had primary hyperparathyroidism and a microprolactinoma.

CONCLUSION

Nonfunctioning pancreatic neuroendocrine tumors may occur in asymptomatic children with MEN1 mutations, and screening for such enteropancreatic tumors in MEN1 children should be considered earlier than the age of 20 yr, as is currently recommended by the international guidelines.

Authors+Show Affiliations

Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology, and Metabolism (OCDEM), Churchill Hospital, Headington Oxford, OX3 7LJ, United Kingdom.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

19622622

Citation

Newey, Paul J., et al. "Asymptomatic Children With Multiple Endocrine Neoplasia Type 1 Mutations May Harbor Nonfunctioning Pancreatic Neuroendocrine Tumors." The Journal of Clinical Endocrinology and Metabolism, vol. 94, no. 10, 2009, pp. 3640-6.
Newey PJ, Jeyabalan J, Walls GV, et al. Asymptomatic children with multiple endocrine neoplasia type 1 mutations may harbor nonfunctioning pancreatic neuroendocrine tumors. J Clin Endocrinol Metab. 2009;94(10):3640-6.
Newey, P. J., Jeyabalan, J., Walls, G. V., Christie, P. T., Gleeson, F. V., Gould, S., Johnson, P. R., Phillips, R. R., Ryan, F. J., Shine, B., Bowl, M. R., & Thakker, R. V. (2009). Asymptomatic children with multiple endocrine neoplasia type 1 mutations may harbor nonfunctioning pancreatic neuroendocrine tumors. The Journal of Clinical Endocrinology and Metabolism, 94(10), 3640-6. https://doi.org/10.1210/jc.2009-0564
Newey PJ, et al. Asymptomatic Children With Multiple Endocrine Neoplasia Type 1 Mutations May Harbor Nonfunctioning Pancreatic Neuroendocrine Tumors. J Clin Endocrinol Metab. 2009;94(10):3640-6. PubMed PMID: 19622622.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Asymptomatic children with multiple endocrine neoplasia type 1 mutations may harbor nonfunctioning pancreatic neuroendocrine tumors. AU - Newey,Paul J, AU - Jeyabalan,Jeshmi, AU - Walls,Gerard V, AU - Christie,Paul T, AU - Gleeson,Fergus V, AU - Gould,Steve, AU - Johnson,Paul R V, AU - Phillips,Rachel R, AU - Ryan,Fiona J, AU - Shine,Brian, AU - Bowl,Michael R, AU - Thakker,Rajesh V, Y1 - 2009/07/21/ PY - 2009/7/23/entrez PY - 2009/7/23/pubmed PY - 2009/10/21/medline SP - 3640 EP - 6 JF - The Journal of clinical endocrinology and metabolism JO - J Clin Endocrinol Metab VL - 94 IS - 10 N2 - CONTEXT: Multiple endocrine neoplasia type 1 (MEN1) is characterized by the occurrence of parathyroid, pituitary, and pancreatic tumors. MEN1, an autosomal dominant disorder, has a high degree of penetrance, such that more than 95% of patients develop clinical manifestations by the fifth decade, although this is lower at approximately 50% by age 20 yr. However, the lower penetrance in the younger group, which is based on detecting hormone-secreting tumors, may be an underestimate because patients may have nonfunctioning tumors and be asymptomatic. OBJECTIVE: The aim of the study was to evaluate the occurrence of nonfunctioning pancreatic neuroendocrine tumors in asymptomatic children with MEN1. PATIENTS: Twelve asymptomatic Northern European children, aged 6 to 16 yr, who were known to have MEN1 mutations were studied. RESULTS: Two asymptomatic children, who were aged 12 and 14 yr, had normal plasma fasting gastrointestinal hormones and were found to have nonfunctioning pancreatic neuroendocrine tumors that were more than 2 cm in size. Surgery and immunostaining revealed that the tumors did not have significant expression of gastrointestinal hormones but did contain chromogranin A and synaptophysin, features consistent with those of nonfunctioning pancreatic neuroendocrine tumors. The tumors had a loss of menin expression. The 14 yr old also had primary hyperparathyroidism and a microprolactinoma, and the 12 yr old had a nonfunctioning pituitary microadenoma. Three other children had primary hyperparathyroidism and a microprolactinoma. CONCLUSION: Nonfunctioning pancreatic neuroendocrine tumors may occur in asymptomatic children with MEN1 mutations, and screening for such enteropancreatic tumors in MEN1 children should be considered earlier than the age of 20 yr, as is currently recommended by the international guidelines. SN - 1945-7197 UR - https://www.unboundmedicine.com/medline/citation/19622622/Asymptomatic_children_with_multiple_endocrine_neoplasia_type_1_mutations_may_harbor_nonfunctioning_pancreatic_neuroendocrine_tumors_ L2 - https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.2009-0564 DB - PRIME DP - Unbound Medicine ER -