{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T19:48:23Z","timestamp":1777578503442,"version":"3.51.4"},"reference-count":52,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Gut"],"accepted":{"date-parts":[[1998,3,31]]},"published-print":{"date-parts":[[1998,10,1]]},"abstract":"<jats:p>\n                    <jats:italic>Background<\/jats:italic>\n                    \u2014Germline 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\u20135% of sporadic and familial cases of Hirschsprung\u2019s disease. Some patients with Hirschsprung\u2019s disease may therefore be exposed to a highly increased risk of tumours.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:italic>Aims<\/jats:italic>\n                    \u2014To define clinical use of RET gene testing in Hirschsprung\u2019s disease and related patient management from an oncological point of view.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:italic>Methods<\/jats:italic>\n                    \u2014Sixty patients with Hirschsprung\u2019s disease were screened for RET mutations. In three, MEN2A type RET mutations were detected. Case reports for these three patients are presented.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:italic>Results and conclusions<\/jats:italic>\n                    \u2014Only 22 families or sporadic patients with Hirschsprung\u2019s disease and MEN2A type RET mutations have been reported. Therefore, it is difficult to predict tumour risk for patients with familial or sporadic Hirschsprung\u2019s 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\u2019s disease is not recommended at present outside a complete clinical research setting. In combined MEN2A\/Hirschsprung\u2019s disease families RET gene testing, tumour screening, and prophylactic thyroidectomy are indicated as in MEN2A.\n                  <\/jats:p>","DOI":"10.1136\/gut.43.4.542","type":"journal-article","created":{"date-parts":[[2010,6,30]],"date-time":"2010-06-30T12:46:12Z","timestamp":1277901972000},"page":"542-547","source":"Crossref","is-referenced-by-count":56,"title":["Oncological implications of RET gene mutations in Hirschsprung\u2019s disease"],"prefix":"10.1136","volume":"43","author":[{"given":"R H","family":"Sijmons","sequence":"first","affiliation":[{"name":"aDepartment of Medical Genetics, University of Groningen, The Netherlands, \n\nbDepartment of Paediatrics, Emma Children\u2019s Hospital, Academic Medical Centre, Amsterdam, \n\ncDepartment of Endocrinology, University Hospital, Groningen, The Netherlands, \n\ndDepartment of Surgery, University Hospital, Groningen, The Netherlands, \n\neDepartment of Paediatric Surgery, Emma Children\u2019s Hospital, Academic Medical Centre, Amsterdam, The Netherlands, \n\nfClinical Genetics Centre, Utrecht, \n\ngDepartment of Human Genetics,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R M W","family":"Hofstra","sequence":"additional","affiliation":[{"name":"aDepartment of Medical Genetics, University of Groningen, The Netherlands, \n\nbDepartment of Paediatrics, Emma Children\u2019s Hospital, Academic Medical Centre, Amsterdam, \n\ncDepartment of Endocrinology, University Hospital, Groningen, The Netherlands, \n\ndDepartment of Surgery, University Hospital, Groningen, The Netherlands, \n\neDepartment of Paediatric Surgery, Emma Children\u2019s Hospital, Academic Medical Centre, Amsterdam, The Netherlands, \n\nfClinical Genetics Centre, Utrecht, \n\ngDepartment of Human Genetics,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F A","family":"Wijburg","sequence":"additional","affiliation":[{"name":"aDepartment of Medical Genetics, University of Groningen, The Netherlands, \n\nbDepartment of Paediatrics, Emma Children\u2019s Hospital, Academic Medical Centre, Amsterdam, \n\ncDepartment of Endocrinology, University Hospital, Groningen, The Netherlands, \n\ndDepartment of Surgery, University Hospital, Groningen, The Netherlands, \n\neDepartment of Paediatric Surgery, Emma Children\u2019s Hospital, Academic Medical Centre, Amsterdam, The Netherlands, \n\nfClinical Genetics Centre, Utrecht, \n\ngDepartment of Human Genetics,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T P","family":"Links","sequence":"additional","affiliation":[{"name":"aDepartment of Medical Genetics, University of Groningen, The Netherlands, \n\nbDepartment of Paediatrics, Emma Children\u2019s Hospital, Academic Medical Centre, Amsterdam, \n\ncDepartment of Endocrinology, University Hospital, Groningen, The Netherlands, \n\ndDepartment of Surgery, University Hospital, Groningen, The Netherlands, \n\neDepartment of Paediatric Surgery, Emma Children\u2019s Hospital, Academic Medical Centre, Amsterdam, The Netherlands, \n\nfClinical Genetics Centre, Utrecht, \n\ngDepartment of Human Genetics,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R P","family":"Zwierstra","sequence":"additional","affiliation":[{"name":"aDepartment of Medical Genetics, University of Groningen, The Netherlands, \n\nbDepartment of Paediatrics, Emma Children\u2019s Hospital, Academic Medical Centre, Amsterdam, \n\ncDepartment of Endocrinology, University Hospital, Groningen, The Netherlands, \n\ndDepartment of Surgery, University Hospital, Groningen, The Netherlands, \n\neDepartment of Paediatric Surgery, Emma Children\u2019s Hospital, Academic Medical Centre, Amsterdam, The Netherlands, \n\nfClinical Genetics Centre, Utrecht, \n\ngDepartment of Human Genetics,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Vermey","sequence":"additional","affiliation":[{"name":"aDepartment of Medical Genetics, University of Groningen, The Netherlands, \n\nbDepartment of Paediatrics, Emma Children\u2019s Hospital, Academic Medical Centre, Amsterdam, \n\ncDepartment of Endocrinology, University Hospital, Groningen, The Netherlands, \n\ndDepartment of Surgery, University Hospital, Groningen, The Netherlands, \n\neDepartment of Paediatric Surgery, Emma Children\u2019s Hospital, Academic Medical Centre, Amsterdam, The Netherlands, \n\nfClinical Genetics Centre, Utrecht, \n\ngDepartment of Human Genetics,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D C","family":"Aronson","sequence":"additional","affiliation":[{"name":"aDepartment of Medical Genetics, University of Groningen, The Netherlands, \n\nbDepartment of Paediatrics, Emma Children\u2019s Hospital, Academic Medical Centre, Amsterdam, \n\ncDepartment of Endocrinology, University Hospital, Groningen, The Netherlands, \n\ndDepartment of Surgery, University Hospital, Groningen, The Netherlands, \n\neDepartment of Paediatric Surgery, Emma Children\u2019s Hospital, Academic Medical Centre, Amsterdam, The Netherlands, \n\nfClinical Genetics Centre, Utrecht, \n\ngDepartment of Human Genetics,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Tan-Sindhunata","sequence":"additional","affiliation":[{"name":"aDepartment of Medical Genetics, University of Groningen, The Netherlands, \n\nbDepartment of Paediatrics, Emma Children\u2019s Hospital, Academic Medical Centre, Amsterdam, \n\ncDepartment of Endocrinology, University Hospital, Groningen, The Netherlands, \n\ndDepartment of Surgery, University Hospital, Groningen, The Netherlands, \n\neDepartment of Paediatric Surgery, Emma Children\u2019s Hospital, Academic Medical Centre, Amsterdam, The Netherlands, \n\nfClinical Genetics Centre, Utrecht, \n\ngDepartment of Human Genetics,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G J","family":"Brouwers-Smalbraak","sequence":"additional","affiliation":[{"name":"aDepartment of Medical Genetics, University of Groningen, The Netherlands, \n\nbDepartment of Paediatrics, Emma Children\u2019s Hospital, Academic Medical Centre, Amsterdam, \n\ncDepartment of Endocrinology, University Hospital, Groningen, The Netherlands, \n\ndDepartment of Surgery, University Hospital, Groningen, The Netherlands, \n\neDepartment of Paediatric Surgery, Emma Children\u2019s Hospital, Academic Medical Centre, Amsterdam, The Netherlands, \n\nfClinical Genetics Centre, Utrecht, \n\ngDepartment of Human Genetics,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S M","family":"Maas","sequence":"additional","affiliation":[{"name":"aDepartment of Medical Genetics, University of Groningen, The Netherlands, \n\nbDepartment of Paediatrics, Emma Children\u2019s Hospital, Academic Medical Centre, Amsterdam, \n\ncDepartment of Endocrinology, University Hospital, Groningen, The 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