{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T21:28:16Z","timestamp":1760909296209},"reference-count":9,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,8,25]],"date-time":"2022-08-25T00:00:00Z","timestamp":1661385600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,8,25]],"date-time":"2022-08-25T00:00:00Z","timestamp":1661385600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["surg case rep"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Typically, in cases of adenomatous polyposis, colorectal cancer develops in the third or fourth decade of life. We report the case of a female patient with colorectal polyposis who developed adenocarcinoma at 8\u00a0years of age.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>An 8-year-old girl was admitted with a 4-year history of occasional bloody stools. Colonoscopy revealed colon polyposis and histopathological assessment confirmed a well-differentiated adenocarcinoma in the adenomatous polyps, so laparoscopy-assisted proctocolectomy was performed in the lithotomy position by a simultaneous abdominal and anal approach. To completely resect the rectal mucosa, excision was commenced just distal to the dentate line. After the mucosal resection up to the peritoneal reflection level, an inverted muscular cuff was cut circumferentially, and the terminal ileum was pulled through the muscular cuff and anastomosed to the anal canal. Histopathology revealed multiple adenomatous polyps and scattered well-differentiated tubular adenocarcinomas (tub1) in the adenomatous polyps and the non-polypoid mucosal lesions. Because complete resection was achieved, additional adjuvant chemotherapy was not administered. Polymerase chain reaction (PCR)-direct sequencing of the entire coding region and the exon\u2013intron junctions, and real-time PCR of DNA extracted from blood cells, revealed no mutations of either <jats:italic>APC<\/jats:italic> or <jats:italic>MUTYH<\/jats:italic>. No deletions, duplications, translocations or inversions of <jats:italic>APC<\/jats:italic>, <jats:italic>MUTYH<\/jats:italic> and <jats:italic>GREM1<\/jats:italic> genes were found using multiplex ligation-dependent probe amplification (MLPA) and G-banding analysis. Multi-gene panels sequencing for polyposis syndromes or hereditary colorectal cancers, and trio-whole exome sequencing was conducted. However, no candidate pathogenic variants of genes were detected in de novo dominant or autosomal recessive model. Somatic mutation of <jats:italic>APC<\/jats:italic> was not detected in 4 polyps by loss of heterozygosity analysis at a single nucleotide polymorphism in intron 14. The patient has remained disease-free for 5\u00a0years. Currently, the patient is on loperamide and passes stool 5 times\/day without any soiling.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>The genetic analysis suggests that she may have a germline mutation at unscreened region of these genes or in unidentified FAP gene. The patient will be carefully followed up for residual rectal carcinoma and for the development of other cancers.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s40792-022-01518-2","type":"journal-article","created":{"date-parts":[[2022,8,25]],"date-time":"2022-08-25T02:02:50Z","timestamp":1661392970000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A case of early onset adenocarcinoma associated with colorectal polyposis with an unknown germline mutation"],"prefix":"10.1186","volume":"8","author":[{"given":"Masahiro","family":"Zenitani","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hidehito","family":"Inagaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroki","family":"Kurahashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takaharu","family":"Oue","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,8,25]]},"reference":[{"key":"1518_CR1","doi-asserted-by":"publisher","first-page":"470","DOI":"10.1007\/s00595-016-1398-1","volume":"47","author":"H Kobayashi","year":"2017","unstructured":"Kobayashi H, Ishida H, Ueno H, Hinoi T, Inoue Y, Ishida F, et al. Association between the age and the development of colorectal cancer in patients with familial adenomatous polyposis: a multi-institutional study. Surg Today. 2017;47:470\u20135.","journal-title":"Surg Today"},{"key":"1518_CR2","doi-asserted-by":"publisher","first-page":"1658","DOI":"10.1016\/0016-5085(91)90666-9","volume":"100","author":"GM Petersen","year":"1991","unstructured":"Petersen GM, Slack J, Nakamura Y. Screening guidelines and premorbid diagnosis of familial adenomatous polyposis using linkage. Gastroenterology. 1991;100:1658\u201364.","journal-title":"Gastroenterology"},{"key":"1518_CR3","doi-asserted-by":"publisher","first-page":"704","DOI":"10.1136\/gut.2007.136127","volume":"57","author":"HF Vasen","year":"2008","unstructured":"Vasen HF, M\u00f6slein G, Alonso A, Aretz S, Bernstein I, Bertario L, et al. Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut. 2008;57:704\u201313.","journal-title":"Gut"},{"key":"1518_CR4","doi-asserted-by":"publisher","first-page":"965","DOI":"10.1016\/j.ejca.2011.01.013","volume":"47","author":"JC Herkert","year":"2011","unstructured":"Herkert JC, Niessen RC, Olderode-Berends MJ, Veenstra-Knol HE, Vos YJ, van der Klift HM, et al. Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines. Eur J Cancer. 2011;47:965\u201382.","journal-title":"Eur J Cancer"},{"key":"1518_CR5","doi-asserted-by":"publisher","first-page":"2449","DOI":"10.1038\/ajg.2010.215","volume":"105","author":"CA Durno","year":"2010","unstructured":"Durno CA, Holter S, Sherman PM, Gallinger S. The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations. Am J Gastroenterol. 2010;105:2449\u201356.","journal-title":"Am J Gastroenterol"},{"key":"1518_CR6","doi-asserted-by":"publisher","first-page":"1767","DOI":"10.1007\/s10147-021-01953-5","volume":"26","author":"T Makabe","year":"2021","unstructured":"Makabe T, Yamagami W, Hirasawa A, Miyabe I, Wakatsuki T, Kikuchi M, et al. Incidence of germline variants in Lynch syndrome-related genes among Japanese endometrial cancer patients aged 40 years or younger. Int J Clin Oncol. 2021;26:1767\u201374.","journal-title":"Int J Clin Oncol"},{"key":"1518_CR7","doi-asserted-by":"publisher","first-page":"1410","DOI":"10.1016\/j.jpedsurg.2009.01.006","volume":"44","author":"R Seetharamaiah","year":"2009","unstructured":"Seetharamaiah R, West BT, Ignash SJ, Pakarinen MP, Koivusalo A, Rintala RJ, et al. Outcomes in pediatric patients undergoing straight vs J pouch ileoanal anastomosis: a multicenter analysis. J Pediatr Surg. 2009;44:1410\u20137.","journal-title":"J Pediatr Surg"},{"key":"1518_CR8","doi-asserted-by":"publisher","first-page":"6774","DOI":"10.3748\/wjg.v19.i40.6774","volume":"19","author":"M Tajika","year":"2013","unstructured":"Tajika M, Niwa Y, Bhatia V, Tanaka T, Ishihara M, Yamao K. Risk of ileal pouch neoplasms in patients with familial adenomatous polyposis. World J Gastroenterol. 2013;19:6774\u201383.","journal-title":"World J Gastroenterol"},{"key":"1518_CR9","doi-asserted-by":"publisher","first-page":"1237","DOI":"10.1016\/j.cgh.2008.06.011","volume":"6","author":"P Friederich","year":"2008","unstructured":"Friederich P, de Jong AE, Mathus-Vliegen LM, Dekker E, Krieken HH, Dees J. Risk of developing adenomas and carcinomas in the ileal pouch in patients with familial adenomatous polyposis. Clin Gastroenterol Hepatol. 2008;6:1237\u201342.","journal-title":"Clin Gastroenterol Hepatol"}],"container-title":["Surgical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s40792-022-01518-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s40792-022-01518-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s40792-022-01518-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,8,25]],"date-time":"2022-08-25T02:03:18Z","timestamp":1661392998000},"score":1,"resource":{"primary":{"URL":"https:\/\/surgicalcasereports.springeropen.com\/articles\/10.1186\/s40792-022-01518-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,8,25]]},"references-count":9,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2022,12]]}},"alternative-id":["1518"],"URL":"https:\/\/doi.org\/10.1186\/s40792-022-01518-2","relation":{},"ISSN":["2198-7793"],"issn-type":[{"value":"2198-7793","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,8,25]]},"assertion":[{"value":"13 July 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 August 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 August 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1964 and later versions. Ethics approval is not applicable, because this is a case report. Written, informed consent was obtained from the patients\u2019 parents for publication of the details of this case.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Consent for publication was obtained from the patient.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"160"}}