{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,3]],"date-time":"2026-04-03T07:59:17Z","timestamp":1775203157583,"version":"3.50.1"},"reference-count":30,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,12,22]],"date-time":"2022-12-22T00:00:00Z","timestamp":1671667200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004735","name":"Natural Science Foundation of\u00a0Hunan Province","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004735","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Oncol."],"abstract":"<jats:p>A synchronous case of small bowel adenocarcinoma(SAB) is reported, accompanied with gastrointestinal stromal tumor(GIST),and gangliocytomain in an elderly woman with neurofibromatosis type 1 (NF-1). A 67-year-old female was hospitalized with the chief complaint of abdominal pain, the computed tomography scan indicated a large bowel mass. Multiple tumors were found in the small intestine, through which two larger tumors (7\u00a0cm and 1.5\u00a0cm) were resected. A novel germline <jats:italic>NF1<\/jats:italic> mutation and a <jats:italic>PMS2<\/jats:italic> mutation were identified after genetic testing, followed by the exploration of possible relationship between them in promoting tumorigenesis. Our results suggest multiple gastrointestinal tumors emerging in NF1 patients, and genetic testing can better guide postoperative treatment in a more efficient way.<\/jats:p>","DOI":"10.3389\/fonc.2022.1052799","type":"journal-article","created":{"date-parts":[[2022,12,22]],"date-time":"2022-12-22T14:25:08Z","timestamp":1671719108000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":5,"title":["Case report: Neurofibromatosis type 1 gastrointestinal stromal tumor and small bowel adenocarcinoma with a novel germline NF1 frameshift mutation"],"prefix":"10.3389","volume":"12","author":[{"given":"Wuming","family":"Zhang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xianqin","family":"Hu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhikang","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chen","family":"Lai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2022,12,22]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22115850","article-title":"Current understanding of neurofibromatosis type 1, 2, and schwannomatosis","volume":"22","author":"Tamura","year":"2021","journal-title":"Int J Mol Sci"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.22.9914","article-title":"Identification and characterization of the neurofibromatosis type 1 protein product","volume":"88","author":"DeClue","year":"1991","journal-title":"Proc Natl Acad Sci U S A."},{"key":"B3","doi-asserted-by":"publisher","first-page":"17004","DOI":"10.1038\/nrdp.2017.4","article-title":"Neurofibromatosis type 1","volume":"3","author":"Gutmann","year":"2017","journal-title":"Nat Rev Dis Primers"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2015.65.3576","article-title":"Distinctive cancer associations in patients with neurofibromatosis type 1","volume":"34","author":"Uusitalo","year":"2016","journal-title":"J Clin Oncol"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2020.07.105","article-title":"Neurofibromatosis type 1: New developments in genetics and treatment","volume":"84","author":"Wilson","year":"2021","journal-title":"J Am Acad Dermatol"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1093\/annonc\/mdl274","article-title":"Gastrointestinal stromal tumor (GIST)","author":"Joensuu","year":"2006","journal-title":"Ann Oncol"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1038\/nrclinonc.2013.132","article-title":"Small bowel adenocarcinomas\u2013existing evidence and evolving paradigms","volume":"10","author":"Raghav","year":"2013","journal-title":"Nat Rev Clin Oncol"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.6004\/jnccn.2019.0043","article-title":"Small bowel adenocarcinoma, version 1.2020, NCCN clinical practice guidelines in oncology","volume":"17","author":"Benson","year":"2019","journal-title":"J Natl Compr Canc Netw"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1016\/S0278-6915(00)00136-8","article-title":"Anatomical and physiological parameters affecting gastrointestinal absorption in humans and rats","volume":"39","author":"DeSesso","year":"2001","journal-title":"Food Chem toxicol: an Int J published Br Ind Biol Res Assoc"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(73)91228-2","article-title":"Why are small-bowel tumours so rare","volume":"1","author":"Lowenfels","year":"1973","journal-title":"Lancet"},{"key":"B11","doi-asserted-by":"publisher","first-page":"2170","DOI":"10.1001\/jama.302.19.2170","article-title":"JAMA patient page. neurofibromatosis","volume":"302","author":"Torpy","year":"2009","journal-title":"JAMA"},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.14768","article-title":"Identification and functional characterization of mutations in LPL gene causing severe hypertriglyceridaemia and acute pancreatitis","volume":"24","author":"Han","year":"2020","journal-title":"J Cell Mol Med"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.13979","article-title":"Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy-dystroglycanopathy","volume":"23","author":"Dai","year":"2019","journal-title":"J Cell Mol Med"},{"key":"B14","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2018.00129","article-title":"Whole exome sequencing identified a novel heterozygous mutation in HMBS gene in a Chinese patient with acute intermittent porphyria with rare type of mild anemia","volume":"9","author":"Zheng","year":"2018","journal-title":"Front Genet"},{"key":"B15","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.14887","article-title":"Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes meckel syndrome","volume":"24","author":"Zhang","year":"2020","journal-title":"J Cell Mol Med"},{"key":"B16","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1186\/s40246-017-0109-3","article-title":"The NF1 somatic mutational landscape in sporadic human cancers","volume":"11","author":"Philpott","year":"2017","journal-title":"Hum Genomics"},{"key":"B17","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1038\/s41572-021-00254-5","article-title":"Gastrointestinal stromal tumours","volume":"7","author":"Blay","year":"2021","journal-title":"Nat Rev Dis Primers."},{"key":"B18","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-11-3025","article-title":"Outcome of patients with platelet-derived growth factor receptor alpha-mutated gastrointestinal stromal tumors in the tyrosine kinase inhibitor era","volume":"18","author":"Cassier","year":"2012","journal-title":"Clin Cancer research: an Off J Am Assoc Cancer Res"},{"key":"B19","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-08-0086","article-title":"Therapeutic consequences from molecular biology for gastrointestinal stromal tumor patients affected by neurofibromatosis type 1","volume":"14","author":"Mussi","year":"2008","journal-title":"Clin Cancer Res"},{"key":"B20","doi-asserted-by":"publisher","DOI":"10.1097\/01.pas.0000176433.81079.bd","article-title":"Gastrointestinal stromal tumors in patients with neurofibromatosis 1: a clinicopathologic and molecular genetic study of 45 cases","volume":"30","author":"Miettinen","year":"2006","journal-title":"Am J Surg Pathol"},{"key":"B21","doi-asserted-by":"publisher","DOI":"10.1002\/bies.950160708","article-title":"Regulation of the ras signalling network","volume":"16","author":"Maruta","year":"1994","journal-title":"Bioessays"},{"key":"B22","doi-asserted-by":"publisher","first-page":"3999","DOI":"10.1038\/sj.onc.1207525","article-title":"Mechanisms of oncogenic KIT signal transduction in primary gastrointestinal stromal tumors (GISTs)","volume":"23","author":"Duensing","year":"2004","journal-title":"Oncogene"},{"key":"B23","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl016","article-title":"Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients","volume":"15","author":"Maertens","year":"2006","journal-title":"Hum Mol Genet"},{"key":"B24","doi-asserted-by":"publisher","DOI":"10.1136\/gut.2006.118299","article-title":"Is surveillance of the small bowel indicated for lynch syndrome families","volume":"56","author":"Ten Kate","year":"2007","journal-title":"Gut"},{"key":"B25","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0858-4","article-title":"Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type","volume":"112","author":"Wang","year":"2003","journal-title":"Hum Genet"},{"key":"B26","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2003.11.008","article-title":"Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation","volume":"126","author":"Gallinger","year":"2004","journal-title":"Gastroenterology"},{"key":"B27","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1038\/sj.ejhg.5201923","article-title":"Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1","volume":"16","author":"Kruger","year":"2008","journal-title":"Eur J Hum Genet"},{"key":"B28","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.20040","article-title":"HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1","volume":"40","author":"Raevaara","year":"2004","journal-title":"Genes Chromosomes Cancer."},{"key":"B29","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-20-2892","article-title":"Characterization and clinical outcomes of DNA mismatch repair-deficient small bowel adenocarcinoma","volume":"27","author":"Latham","year":"2021","journal-title":"Clin Cancer Res"},{"key":"B30","doi-asserted-by":"publisher","DOI":"10.1001\/jamaoncol.2017.1051","article-title":"Genomic profiling of small-bowel adenocarcinoma","volume":"3","author":"Schrock","year":"2017","journal-title":"JAMA Oncol"}],"container-title":["Frontiers in Oncology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fonc.2022.1052799\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,22]],"date-time":"2022-12-22T14:25:11Z","timestamp":1671719111000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fonc.2022.1052799\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,22]]},"references-count":30,"alternative-id":["10.3389\/fonc.2022.1052799"],"URL":"https:\/\/doi.org\/10.3389\/fonc.2022.1052799","relation":{},"ISSN":["2234-943X"],"issn-type":[{"value":"2234-943X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,12,22]]},"article-number":"1052799"}}