{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T17:25:17Z","timestamp":1761153917902,"version":"3.44.0"},"reference-count":20,"publisher":"BMJ","issue":"8","funder":[{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2019,8,3]]},"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:p>Pathogenic variants in the <jats:italic>RET<\/jats:italic> gene can cause isolated and multi-system diseases. We report a patient diagnosed prenatally with unilateral multicystic dysplastic kidney and genitourinary abnormality whose mother had multiple endocrine neoplasia type 2A (MEN2A). Targeted <jats:italic>RET<\/jats:italic> sequencing found the same pathogenic variant p.C618S in the child as her mother. The child is followed by paediatric nephrology for congenital anomalies of the kidney and urinary tract (CAKUT) and by endocrine oncology for surveillance for MEN2A-related endocrine tumours. While implicated in each of these conditions individually, <jats:italic>RET<\/jats:italic> variants have never been reported to cause MEN2A and CAKUT together. This child\u2019s family history prompted <jats:italic>RET<\/jats:italic> sequencing, resulting in presymptomatic, personalised care for MEN2A. However, this case supports the idea that genetic screening of <jats:italic>RET<\/jats:italic> (and many other genes) in patients with CAKUT may lead to molecular diagnoses that potentially improve their health through precision care.<\/jats:p>","DOI":"10.1136\/bcr-2019-229904","type":"journal-article","created":{"date-parts":[[2019,8,30]],"date-time":"2019-08-30T08:30:55Z","timestamp":1567153855000},"page":"e229904","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Unique association of multiple endocrine neoplasia 2A and congenital anomalies of the kidney and urinary tract in a child with a <i>RET<\/i> mutation"],"prefix":"10.1136","volume":"12","author":[{"given":"Olivia R","family":"Wood","sequence":"first","affiliation":[{"name":"University of Michigan, Ann Arbor, Michigan, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tobias","family":"Else","sequence":"additional","affiliation":[{"name":"Internal Medicine-Endocrinoloy, University of Michigan, Ann Arbor, Michigan, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew G","family":"Sampson","sequence":"additional","affiliation":[{"name":"Pediatric-Nephrology, University of Michigan, Ann Arbor, Michigan, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2019,8,30]]},"reference":[{"key":"2025082708570815000_12.8.e229904.1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-012-1181-3"},{"key":"2025082708570815000_12.8.e229904.2","first-page":"401","article-title":"RET proto-oncogene: role in kidney development and molecular pathology","volume":"28","author":"Salomon","year":"1998","journal-title":"Adv Nephrol Necker Hosp"},{"key":"2025082708570815000_12.8.e229904.3","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1007\/s10689-011-9487-1","article-title":"Case report: a p.C618S RET proto-oncogene germline mutation in a large Chinese pedigree with familial medullary thyroid carcinoma","volume":"11","author":"Qi","year":"2012","journal-title":"Fam Cancer"},{"key":"2025082708570815000_12.8.e229904.4","doi-asserted-by":"publisher","DOI":"10.1089\/thy.2014.0335"},{"key":"2025082708570815000_12.8.e229904.5","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-010-1629-4"},{"key":"2025082708570815000_12.8.e229904.6","doi-asserted-by":"publisher","DOI":"10.1172\/JCI95300"},{"key":"2025082708570815000_12.8.e229904.7","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-1-45"},{"key":"2025082708570815000_12.8.e229904.8","unstructured":"Marquard J , Eng C . et al Multiple Endocrine Neoplasia Type 2. In: Adam MP , Ardinger HH , Pagon RA , Wallace SE , Bean LJH , Stephens K , . eds. GeneReviews(R). 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