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Oncological implications of RET gene mutations in Hirschsprung's disease.
Gut. 1998 Oct; 43(4):542-7.Gut

Abstract

BACKGROUND

Germline mutations of the RET proto-oncogene identical to those found in the tumour predisposition syndrome multiple endocrine neoplasia type 2A (MEN2A), were detected in 2.5-5% of sporadic and familial cases of Hirschsprung's disease. Some patients with Hirschsprung's disease may therefore be exposed to a highly increased risk of tumours.

AIMS

To define clinical use of RET gene testing in Hirschsprung's disease and related patient management from an oncological point of view.

METHODS

Sixty patients with Hirschsprung's disease were screened for RET mutations. In three, MEN2A type RET mutations were detected. Case reports for these three patients are presented.

RESULTS AND CONCLUSIONS

Only 22 families or sporadic patients with Hirschsprung's disease and MEN2A type RET mutations have been reported. Therefore, it is difficult to predict tumour risk for patients with familial or sporadic Hirschsprung's disease, and their relatives, who carry these mutations. For these mutation carriers, periodic screening for tumours as in MEN2A is advised, but prophylactic thyroidectomy is offered hesitantly. RET gene testing in familial or sporadic Hirschsprung's disease is not recommended at present outside a complete clinical research setting. In combined MEN2A/Hirschsprung's disease families RET gene testing, tumour screening, and prophylactic thyroidectomy are indicated as in MEN2A.

Authors+Show Affiliations

Department of Medical Genetics, University of Groningen, The Netherlands.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 available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

9824583

Citation

Sijmons, R H., et al. "Oncological Implications of RET Gene Mutations in Hirschsprung's Disease." Gut, vol. 43, no. 4, 1998, pp. 542-7.
Sijmons RH, Hofstra RM, Wijburg FA, et al. Oncological implications of RET gene mutations in Hirschsprung's disease. Gut. 1998;43(4):542-7.
Sijmons, R. H., Hofstra, R. M., Wijburg, F. A., Links, T. P., Zwierstra, R. P., Vermey, A., Aronson, D. C., Tan-Sindhunata, G., Brouwers-Smalbraak, G. J., Maas, S. M., & Buys, C. H. (1998). Oncological implications of RET gene mutations in Hirschsprung's disease. Gut, 43(4), 542-7.
Sijmons RH, et al. Oncological Implications of RET Gene Mutations in Hirschsprung's Disease. Gut. 1998;43(4):542-7. PubMed PMID: 9824583.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Oncological implications of RET gene mutations in Hirschsprung's disease. AU - Sijmons,R H, AU - Hofstra,R M, AU - Wijburg,F A, AU - Links,T P, AU - Zwierstra,R P, AU - Vermey,A, AU - Aronson,D C, AU - Tan-Sindhunata,G, AU - Brouwers-Smalbraak,G J, AU - Maas,S M, AU - Buys,C H, PY - 1998/11/21/pubmed PY - 1998/11/21/medline PY - 1998/11/21/entrez SP - 542 EP - 7 JF - Gut JO - Gut VL - 43 IS - 4 N2 - BACKGROUND: Germline mutations of the RET proto-oncogene identical to those found in the tumour predisposition syndrome multiple endocrine neoplasia type 2A (MEN2A), were detected in 2.5-5% of sporadic and familial cases of Hirschsprung's disease. Some patients with Hirschsprung's disease may therefore be exposed to a highly increased risk of tumours. AIMS: To define clinical use of RET gene testing in Hirschsprung's disease and related patient management from an oncological point of view. METHODS: Sixty patients with Hirschsprung's disease were screened for RET mutations. In three, MEN2A type RET mutations were detected. Case reports for these three patients are presented. RESULTS AND CONCLUSIONS: Only 22 families or sporadic patients with Hirschsprung's disease and MEN2A type RET mutations have been reported. Therefore, it is difficult to predict tumour risk for patients with familial or sporadic Hirschsprung's disease, and their relatives, who carry these mutations. For these mutation carriers, periodic screening for tumours as in MEN2A is advised, but prophylactic thyroidectomy is offered hesitantly. RET gene testing in familial or sporadic Hirschsprung's disease is not recommended at present outside a complete clinical research setting. In combined MEN2A/Hirschsprung's disease families RET gene testing, tumour screening, and prophylactic thyroidectomy are indicated as in MEN2A. SN - 0017-5749 UR - https://www.unboundmedicine.com/medline/citation/9824583/Oncological_implications_of_RET_gene_mutations_in_Hirschsprung's_disease_ L2 - https://gut.bmj.com/lookup/pmidlookup?view=long&pmid=9824583 DB - PRIME DP - Unbound Medicine ER -