{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T15:04:00Z","timestamp":1753887840208,"version":"3.41.2"},"reference-count":43,"publisher":"FapUNIFESP (SciELO)","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"am","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["ABCD, arq. bras. cir. dig."],"abstract":"<jats:p>ABSTRACT  BACKGROUND: Plexiform neurofibromas represent a common neoplasia of type 1 neurofibromatosis in which neurofibromas arise from multiple nerves involving connective tissue and skin and rarely affect the colon and rectum. Co-occurrence of plexiform neurofibromas, neuroendocrine tumors with primary involvement of the rectum, and medullary thyroid carcinoma in patients with neurofibromatosis type 1 is a previously undescribed condition. The aim of this manuscript was to present a case of primary plexiform neurofibroma and neuroendocrine tumors of the upper rectum in a patient with neurofibromatosis type 1 whose genetic sequencing found a novel mutation in the neurofibromatosis type 1 gene and to review the literature.  CASE REPORT: A 49-year-old woman with a familial history of neurofibromatosis type 1 complained of abdominal cramps for 6 months. She had previously been submitted for a total thyroidectomy due to medullary thyroid carcinoma. She was submitted to a colonoscopy, which identified a submucosa lesion located in the upper rectum. The patient was referred for a laparoscopic rectosigmoidectomy, and the histopathological study of the surgical specimen identified two different tumors. An immunohistochemical panel was done for histopathological confirmation of the etiology of both lesions. The results of the panel showed intense immunoexpression of S100 protein in the largest and superficial lesion, as well as positivity for chromogranin and synaptophysin in the minor and deep lesion confirming the diagnosis of rectal plexiform neurofibromas concomitant with neuroendocrine tumors. The proliferative activity rate using Ki-67 antibodies showed that both tumors had a low rate of mitotic activity (&lt;1%). Genetic sequence panel identified an undescribed mutation in the neurofibromatosis type 1 gene (deletion, exons 2\u201330). The patient\u2019s postoperative evolution was uneventful, and she remains well, without recurrence, 3 years after surgery.  CONCLUSION: The co-occurrence of medullary thyroid carcinoma, plexiform neurofibromas, and neuroendocrine tumors of the rectum in patients with neurofibromatosis type 1 is an exceptional and undescribed possibility, whose diagnosis can be confirmed by the immunohistochemical staining and genetic panel.<\/jats:p>","DOI":"10.1590\/0102-672020220002e1702","type":"journal-article","created":{"date-parts":[[2023,1,9]],"date-time":"2023-01-09T15:18:18Z","timestamp":1673277498000},"source":"Crossref","is-referenced-by-count":3,"title":["MULTIPLE NEUROENDOCRINE NEOPLASIA IN A PATIENT WITH TYPE I NEUROFIBROMATOSIS (NF1): REPORT OF A NEW MUTATION (NF1, EXONS 2-30 DELETION) AND LITERATURE REVIEW"],"prefix":"10.1590","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7120-4017","authenticated-orcid":false,"given":"Danilo Toshio","family":"KANNO","sequence":"first","affiliation":[{"name":"Universidade S\u00e3o Francisco,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7781-9610","authenticated-orcid":false,"given":"Roberta Lais Mendon\u00e7a de","family":"MATTOS","sequence":"additional","affiliation":[{"name":"Universidade S\u00e3o Francisco,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6233-6904","authenticated-orcid":false,"given":"F\u00e1bio Guilherme","family":"CAMPOS","sequence":"additional","affiliation":[{"name":"Universidade S\u00e3o Francisco,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7909-8810","authenticated-orcid":false,"given":"Rayama Moreira","family":"SIQUEIRA","sequence":"additional","affiliation":[{"name":"Universidade S\u00e3o Francisco,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4367-9311","authenticated-orcid":false,"given":"Rita Barbosa de","family":"CARVALHO","sequence":"additional","affiliation":[{"name":"Universidade Estadual de Campinas,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8088-427X","authenticated-orcid":false,"given":"Carlos Augusto","family":"REAL MARTINEZ","sequence":"additional","affiliation":[{"name":"Universidade S\u00e3o Francisco,  Brazil; Universidade Estadual de Campinas,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"530","published-online":{"date-parts":[[2022]]},"reference":[{"issue":"9","key":"ref1","first-page":"852","article-title":"Gastrointestinal manifestations of neurofibromatosis type 1 (Recklinghausen\u2019s disease): clinicopathological spectrum with pathogenetic considerations","volume":"5","author":"Agaimy A","year":"2012","journal-title":"Int J Clin Exp Pathol."},{"issue":"3","key":"ref2","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1159\/000452202","article-title":"Neurofibroma of the colon: a diagnostic mimicker of gastrointestinal stromal tumor","volume":"10","author":"Ahn S","year":"2016","journal-title":"Case Rep Gastroenterol."},{"issue":"1","key":"ref3","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1007\/s11605-009-0940-5","article-title":"Gastrointestinal and retroperitoneal manifestations of type 1 neurofibromatosis","volume":"14","author":"Basile U","year":"2010","journal-title":"J Gastrointest Surg"},{"issue":"4","key":"ref4","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1038\/gim.2015.75","article-title":"POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and\/or polyposis: review of reported cases and recommendations for genetic testing and surveillance","volume":"18","author":"Bellido F","year":"2016","journal-title":"Genet Med."},{"issue":"1","key":"ref5","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1186\/s13023-020-1310-3","article-title":"Neurofibromatosis type 1 French national guidelines based on an extensive literature review since 1966","volume":"15","author":"Bergqvist C","year":"2020","journal-title":"Orphanet J Rare Dis."},{"issue":"1","key":"ref6","doi-asserted-by":"crossref","first-page":"e1575","DOI":"10.1590\/0102-672020210001e1575","article-title":"Laparoscopic splenic flexure mobilization: technical aspects, indication criteria and outcomes","volume":"34","author":"Campos FG","year":"2021","journal-title":"Arq Bras Cir Dig."},{"issue":"1","key":"ref7","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1093\/jnen\/64.1.1","article-title":"Tumor suppressor mutations and growth factor signaling in the pathogenesis of NF1-associated peripheral nerve sheath tumors: II. 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Arquivos Brasileiros de Cirurgia Digestiva (S\u00e3o Paulo)"],"original-title":["NEOPLASIA NEUROEND\u00d3CRINA M\u00daLTIPLA EM DOENTE COM NEUROFIBROMATOSE TIPO 1 (NF1). DESCRI\u00c7\u00c3O DE UMA NOVA MUTA\u00c7\u00c3O E REVIS\u00c3O DA LITERATURA"],"link":[{"URL":"http:\/\/www.scielo.br\/scielo.php?script=sci_pdf&pid=S0102-67202022000100504&tlng=en","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,1,9]],"date-time":"2023-01-09T15:18:53Z","timestamp":1673277533000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.scielo.br\/scielo.php?script=sci_arttext&pid=S0102-67202022000100504&tlng=en"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022]]},"references-count":43,"alternative-id":["S0102-67202022000100504"],"URL":"https:\/\/doi.org\/10.1590\/0102-672020220002e1702","relation":{},"ISSN":["2317-6326","0102-6720"],"issn-type":[{"type":"electronic","value":"2317-6326"},{"type":"print","value":"0102-6720"}],"subject":[],"published":{"date-parts":[[2022]]},"article-number":"e1702"}}