{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,2]],"date-time":"2026-01-02T10:30:35Z","timestamp":1767349835658,"version":"3.48.0"},"reference-count":15,"publisher":"Scientific Scholar","content-domain":{"domain":["surgicalneurologyint.com"],"crossmark-restriction":true},"short-container-title":[],"abstract":"<jats:sec id=\"st1\">\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>We describe the case of a 23-year-old woman with a history of medullary thyroid cancer (MTC) who presented with a choroid plexus papilloma (CPP) and review the literature regarding the co-occurrence of these two pathologies.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"st2\">\n                    <jats:title>Case Description:<\/jats:title>\n                    <jats:p>A 23-year-old woman with a history of MTC treated with thyroidectomy 3 months prior was referred to neurosurgery with an incidental fourth ventricular mass found on prior imaging of her neck. She presented to the clinic with intermittent headaches and underwent MRI which demonstrated a hyperintense, heterogeneously enhancing lobular mass at the obex of the fourth ventricle. She underwent suboccipital craniotomy and C1 laminectomy for resection of tumor with pathology revealing CPP. No somatic mutations unique to the tumor were found after targeted exome sequencing and tumor-normal paired analyses. Interestingly, germline sequencing reveals a mutation in the tumor suppressor Cadherin 1(CDH1).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"st3\">\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>Mutations in CDH1 may play a role in an underlying predisposition toward the development of MTC and CPP. Current literature identifies no definitive connection between MTC and CPP, though future studies may suggest the role of this gene beyond a predisposition to gastric and breast cancer.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.25259\/sni_669_2025","type":"journal-article","created":{"date-parts":[[2025,12,26]],"date-time":"2025-12-26T09:56:04Z","timestamp":1766742964000},"page":"548","update-policy":"https:\/\/doi.org\/10.25259\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Cadherin 1 germline mutation co-occurs with medullary thyroid cancer and choroid plexus papilloma: A case report and review of literature"],"prefix":"10.25259","volume":"16","author":[{"given":"Vijay","family":"Nitturi","sequence":"first","affiliation":[{"name":"Department of Neurosurgery, Baylor College of Medicine, Houston, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sricharan","family":"Gopakumar","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Baylor College of Medicine, Houston, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hsiang-Chih","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Pathology and Immunology, Baylor College of Medicine, Houston, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akash J.","family":"Patel","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Baylor College of Medicine, Houston, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"10894","published-online":{"date-parts":[[2025,12,26]]},"reference":[{"key":"10.25259\/SNI_669_2025\/ref-1","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1038\/s41379-019-0209-9","article-title":"The molecular mechanisms underlying reduced E-cadherin expression in invasive ductal carcinoma of the breast: High throughput analysis of large cohorts","volume":"32","author":"Alsaleem","year":"2019","journal-title":"Mod Pathol"},{"key":"10.25259\/SNI_669_2025\/ref-2","doi-asserted-by":"crossref","first-page":"2384","DOI":"10.18632\/oncotarget.26797","article-title":"Clinical validation of the tempus xT next-generation targeted oncology sequencing assay","volume":"10","author":"Beaubier","year":"2019","journal-title":"Oncotarget"},{"key":"10.25259\/SNI_669_2025\/ref-3","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1007\/s12020-024-03990-2","article-title":"Minor role of TP53 and TERT promoter mutations in medullary thyroid carcinoma: Report of new cases and revision of the literature","volume":"87","author":"Casalini","year":"2025","journal-title":"Endocrine"},{"key":"10.25259\/SNI_669_2025\/ref-4","doi-asserted-by":"crossref","first-page":"1598","DOI":"10.3390\/cancers12061598","article-title":"Hereditary gastric and breast cancer syndromes related to CDH1 germline mutation: A multidisciplinary clinical review","volume":"12","author":"Corso","year":"2020","journal-title":"Cancers (Basel)"},{"key":"10.25259\/SNI_669_2025\/ref-5","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1089\/gtmb.2010.0036","article-title":"Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations","volume":"14","author":"Flanagan","year":"2010","journal-title":"Genet Test Mol Biomarkers"},{"key":"10.25259\/SNI_669_2025\/ref-6","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1007\/s00401-021-02307-1","article-title":"Rare germline variants in the E-cadherin gene CDH1 are associated with the risk of brain tumors of neuroepithelial and epithelial origin","volume":"142","author":"F\u00f6rster","year":"2021","journal-title":"Acta Neuropathol"},{"key":"10.25259\/SNI_669_2025\/ref-7","doi-asserted-by":"crossref","first-page":"801","DOI":"10.14740\/wjon1896","article-title":"Patterns and frequency of pathogenic germline variants among prostate cancer patients utilizing multi-gene panel genetic testing","volume":"15","author":"Abu Hijlih","year":"2024","journal-title":"World J Oncol"},{"key":"10.25259\/SNI_669_2025\/ref-8","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1093\/neuonc\/noae176","article-title":"Activation of Wnt\/\u03b2-catenin signaling is critical for the tumorigenesis of choroid plexus","volume":"27","author":"Ho","year":"2025","journal-title":"Neuro Oncol"},{"key":"10.25259\/SNI_669_2025\/ref-9","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1097\/MED.0000000000000662","article-title":"Medullary thyroid carcinoma","volume":"28","author":"Jaber","year":"2021","journal-title":"Curr Opin Endocrinol Diabetes Obes"},{"key":"10.25259\/SNI_669_2025\/ref-10","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1073\/pnas.0909734107","article-title":"A genomewide study identifies the Wnt signaling pathway as a major target of p53 in murine embryonic stem cells","volume":"107","author":"Lee","year":"2010","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.25259\/SNI_669_2025\/ref-11","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1016\/j.cancergencyto.2007.05.029","article-title":"DNA methylation patterns of the CDH1, RARB and SFN genes in choroid plexus tumors","volume":"179","author":"Losi-Guembarovski","year":"2007","journal-title":"Cancer Genet Cytogenet"},{"key":"10.25259\/SNI_669_2025\/ref-12","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1016\/j.surg.2008.06.028","article-title":"The phosphatidylinositol 3-kinase\/akt signaling pathway in medullary thyroid cancer","volume":"144","author":"Pitt","year":"2008","journal-title":"Surgery"},{"key":"10.25259\/SNI_669_2025\/ref-13","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1093\/neuonc\/nos289","article-title":"Choroid plexus papillomas: Advances in molecular biology and understanding of tumorigenesis","volume":"15","author":"Safaee","year":"2013","journal-title":"Neuro Oncol"},{"key":"10.25259\/SNI_669_2025\/ref-14","doi-asserted-by":"crossref","first-page":"1479","DOI":"10.3892\/ol.2016.5552","article-title":"Imaging findings of extraventricular choroid plexus papillomas: A study of 10 cases","volume":"13","author":"Shi","year":"2017","journal-title":"Oncol Lett"},{"key":"10.25259\/SNI_669_2025\/ref-15","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1002\/humu.20896","article-title":"Classification of rare missense substitutions, using risk surfaces, with genetic-and molecular-epidemiology applications","volume":"29","author":"Tavtigian","year":"2008","journal-title":"Hum Mutat"}],"container-title":["Surgical Neurology International"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/surgicalneurologyint.com\/cadherin-1-germline-mutation-co-occurs-with-medullary-thyroid-cancer-and-choroid-plexus-papilloma-a-case-report-and-review-of-literature\/","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/surgicalneurologyint.com\/surgicalint-articles\/cadherin-1-germline-mutation-co-occurs-with-medullary-thyroid-cancer-and-choroid-plexus-papilloma-a-case-report-and-review-of-literature\/","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,2]],"date-time":"2026-01-02T10:27:48Z","timestamp":1767349668000},"score":1,"resource":{"primary":{"URL":"http:\/\/surgicalneurologyint.com\/surgicalint-articles\/cadherin-1-germline-mutation-co-occurs-with-medullary-thyroid-cancer-and-choroid-plexus-papilloma-a-case-report-and-review-of-literature\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12,26]]},"references-count":15,"alternative-id":["10.25259\/SNI_669_2025"],"URL":"https:\/\/doi.org\/10.25259\/sni_669_2025","relation":{},"ISSN":["2152-7806","2229-5097"],"issn-type":[{"type":"electronic","value":"2152-7806"},{"type":"print","value":"2229-5097"}],"subject":[],"published":{"date-parts":[[2025,12,26]]},"article-number":"548"}}