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RET proto-oncogene testing in infants presenting with Hirschsprung disease identifies 2 new multiple endocrine neoplasia 2A kindreds.
J Pediatr Surg. 2008 Jan; 43(1):188-90.JP

Abstract

BACKGROUND

Multiple endocrine neoplasia 2A (MEN 2A) is a genetic syndrome manifesting as medullary thyroid carcinoma (MTC), hyperparathyroidism, and pheochromocytoma. Multiple endocrine neoplasia 2A results from mutations in the RET proto-oncogene. Hirschsprung disease (HSCR) is a rare manifestation of MEN 2A and has been described in known MEN 2A families.

METHODS

Here we describe 2 MEN 2A families that were only identified after the diagnosis of HSCR.

RESULTS

Kindred 1: A boy presented in infancy with HSCR. Genetic screening revealed a C609Y mutation, which is consistent with MEN 2A. Evaluation of his sister, father, and grandmother revealed the same mutation. All 3 had thyroidectomies demonstrating C-cell hyperplasia. The grandmother had a microscopic focus of MTC. Kindred 2: An infant boy and his sister were diagnosed with HSCR as neonates. Genetic testing demonstrated a C620R gene mutation consistent with MEN 2A. Total thyroidectomies revealed metastatic MTC in the father and C-cell hyperplasia in both children.

CONCLUSIONS

Hirschsprung disease can be the initial presentation of MEN 2A. We strongly recommend that genetic screening be performed in patients presenting with HSCR, looking for the known RET mutations associated with MEN 2A. If a mutation consistent with MEN 2A is detected, genetic screening of all first-degree relatives in the kindred is recommended.

Authors+Show Affiliations

Washington University School of Medicine, Saint Louis, MO 63110, USA. fialkowskie@wudosis.wustl.eduNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

18206480

Citation

Fialkowski, Elizabeth A., et al. "RET Proto-oncogene Testing in Infants Presenting With Hirschsprung Disease Identifies 2 New Multiple Endocrine Neoplasia 2A Kindreds." Journal of Pediatric Surgery, vol. 43, no. 1, 2008, pp. 188-90.
Fialkowski EA, DeBenedetti MK, Moley JF, et al. RET proto-oncogene testing in infants presenting with Hirschsprung disease identifies 2 new multiple endocrine neoplasia 2A kindreds. J Pediatr Surg. 2008;43(1):188-90.
Fialkowski, E. A., DeBenedetti, M. K., Moley, J. F., & Bachrach, B. (2008). RET proto-oncogene testing in infants presenting with Hirschsprung disease identifies 2 new multiple endocrine neoplasia 2A kindreds. Journal of Pediatric Surgery, 43(1), 188-90. https://doi.org/10.1016/j.jpedsurg.2007.09.043
Fialkowski EA, et al. RET Proto-oncogene Testing in Infants Presenting With Hirschsprung Disease Identifies 2 New Multiple Endocrine Neoplasia 2A Kindreds. J Pediatr Surg. 2008;43(1):188-90. PubMed PMID: 18206480.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - RET proto-oncogene testing in infants presenting with Hirschsprung disease identifies 2 new multiple endocrine neoplasia 2A kindreds. AU - Fialkowski,Elizabeth A, AU - DeBenedetti,Mary K, AU - Moley,Jeffrey F, AU - Bachrach,Bert, PY - 2007/08/29/received PY - 2007/09/02/accepted PY - 2008/1/22/pubmed PY - 2008/2/21/medline PY - 2008/1/22/entrez SP - 188 EP - 90 JF - Journal of pediatric surgery JO - J Pediatr Surg VL - 43 IS - 1 N2 - BACKGROUND: Multiple endocrine neoplasia 2A (MEN 2A) is a genetic syndrome manifesting as medullary thyroid carcinoma (MTC), hyperparathyroidism, and pheochromocytoma. Multiple endocrine neoplasia 2A results from mutations in the RET proto-oncogene. Hirschsprung disease (HSCR) is a rare manifestation of MEN 2A and has been described in known MEN 2A families. METHODS: Here we describe 2 MEN 2A families that were only identified after the diagnosis of HSCR. RESULTS: Kindred 1: A boy presented in infancy with HSCR. Genetic screening revealed a C609Y mutation, which is consistent with MEN 2A. Evaluation of his sister, father, and grandmother revealed the same mutation. All 3 had thyroidectomies demonstrating C-cell hyperplasia. The grandmother had a microscopic focus of MTC. Kindred 2: An infant boy and his sister were diagnosed with HSCR as neonates. Genetic testing demonstrated a C620R gene mutation consistent with MEN 2A. Total thyroidectomies revealed metastatic MTC in the father and C-cell hyperplasia in both children. CONCLUSIONS: Hirschsprung disease can be the initial presentation of MEN 2A. We strongly recommend that genetic screening be performed in patients presenting with HSCR, looking for the known RET mutations associated with MEN 2A. If a mutation consistent with MEN 2A is detected, genetic screening of all first-degree relatives in the kindred is recommended. SN - 1531-5037 UR - https://www.unboundmedicine.com/medline/citation/18206480/RET_proto_oncogene_testing_in_infants_presenting_with_Hirschsprung_disease_identifies_2_new_multiple_endocrine_neoplasia_2A_kindreds_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0022-3468(07)00714-2 DB - PRIME DP - Unbound Medicine ER -