{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T07:39:36Z","timestamp":1768289976315,"version":"3.49.0"},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,3,29]],"date-time":"2021-03-29T00:00:00Z","timestamp":1616976000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Noonan syndrome (NS) is an autosomal dominant condition with variable expressivity most commonly due to a germline pathogenic variant in <jats:italic>PTPN11<\/jats:italic>, which encodes the protein tyrosine phosphatase SHP\u20102. Gain\u2010of\u2010function variants in <jats:italic>PTPN11<\/jats:italic> are known to promote oncogenic behavior in affected tissues. We report the clinical description of a young adult male presenting with relapsing ganglioneuromas, dysmorphic features, cardiac abnormalities, and multiple lentigines, strongly suspicious for NS. Solid tumor testing identified the recurrent pathogenic c.922G&gt;A (p.Asn308Asp) in <jats:italic>PTPN11<\/jats:italic>. Proband and parental blood sampling testing confirmed c.922G&gt;A as a <jats:italic>de novo<\/jats:italic> germline alteration. Comprehensive literature review of solid tumors specifically associated to <jats:italic>PTPN11<\/jats:italic>, indicates that this is the first documentation of ganglioneuroma and its clinical recurrence after resection in conjunction with a genetically confirmed NS diagnosis. The findings in our patient further extend the list of neuroblastic and neural crest\u2010derived neoplasms associated with this condition.<\/jats:p>","DOI":"10.1002\/ajmg.a.62178","type":"journal-article","created":{"date-parts":[[2021,3,29]],"date-time":"2021-03-29T08:34:41Z","timestamp":1617006881000},"page":"1883-1887","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Recurrent ganglioneuroma in <scp><i>PTPN11<\/i><\/scp>\u2010associated Noonan syndrome: A case report and literature review"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7710-2211","authenticated-orcid":false,"given":"Joel A.","family":"Morales\u2010Rosado","sequence":"first","affiliation":[{"name":"Center for Individualized Medicine Mayo Clinic  Rochester Minnesota USA"},{"name":"Department of Quantitative Health Sciences Mayo Clinic  Rochester Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Herchran","family":"Singh","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics Mayo Clinic  Phoenix Arizona USA"},{"name":"School of Osteopathic Medicine in Arizona A.T. Still University  Mesa Arizona USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rory J.","family":"Olson","sequence":"additional","affiliation":[{"name":"Center for Individualized Medicine Mayo Clinic  Rochester Minnesota USA"},{"name":"Department of Quantitative Health Sciences Mayo Clinic  Rochester Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brandon T.","family":"Larsen","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Scottsdale Arizona USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Megan M.","family":"Hager","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics Mayo Clinic  Phoenix Arizona USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric W.","family":"Klee","sequence":"additional","affiliation":[{"name":"Center for Individualized Medicine Mayo Clinic  Rochester Minnesota USA"},{"name":"Department of Quantitative Health Sciences Mayo Clinic  Rochester Minnesota USA"},{"name":"Department of Clinical Genomics Mayo Clinic  Rochester Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Radhika","family":"Dhamija","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics Mayo Clinic  Phoenix Arizona USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,3,29]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1155\/2019\/6091059"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.20527"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12885-016-2513-9"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.annonc.2020.03.291"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijpam.2016.06.003"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.27625"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3333"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20005"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.37"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.4038\/sljch.v48i1.8656"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13588"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36005"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1201452"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng772"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000015203"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62178","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62178","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62178","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T14:11:07Z","timestamp":1693577467000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62178"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3,29]]},"references-count":15,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2021,6]]}},"alternative-id":["10.1002\/ajmg.a.62178"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62178","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,3,29]]},"assertion":[{"value":"2020-11-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-02-20","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-03-29","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}