Tamura R. Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis. Int J Mol Sci. 2021;22(11):5850. https://doi.org/10.3390/ijms22115850
Nix JS, Blakeley J, Rodriguez FJ. An update on the central nervous system manifestations of neurofibromatosis type 1. Acta Neuropathol. 2020;139(4):625–41. https://doi.org/10.1007/s00401-019-02002-2
Coy S, Rashid R, Stemmer-Rachamimov A, Santagata S. An update on the CNS manifestations of neurofibromatosis type 2. Acta Neuropathol. 2020;139(4):643–65. https://doi.org/10.1007/s00401-019-02029-5
Lee JM, Lee JM, Hyun JJ, Choi HS, Kim ES, Keum B, et al. Intraductal papillary bile duct adenocarcinoma and gastrointestinal stromal tumor in a case of neurofibromatosis type 1. World J Gastroenterol. 2018;24(4):537–42. https://doi.org/10.3748/wjg.v24.i4.537
Zhang W, Hu X, Chen Z, Lai C. Case report: Neurofibromatosis type 1 gastrointestinal stromal tumor and small bowel adenocarcinoma with a novel germline NF1 frameshift mutation. Front Oncol. 2022;12:1052799. https://doi.org/10.3389/fonc.2022.1052799
Ferner RE. Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol. 2007;6(4):340–51. https://doi.org/10.1016/S1474-4422(07)70075-3
Kistler CA, Johnson JM, Winter JM, Baliff JP, Siddiqui AA, Sama AR. A case of periampullary adenocarcinoma in neurofibromatosis type 1. J Gastrointest Oncol. 2014;5(6):E96–9. https://doi.org/10.3978/j.issn.2078-6891.2014.047
Relles D, Baek J, Witkiewicz A, Yeo CJ. Periampullary and duodenal neoplasms in neurofibromatosis type 1. J Gastrointest Surg. 2010;14(6):1052–61. https://doi.org/10.1007/s11605-009-1123-0
Raghav K, Overman MJ. Small bowel adenocarcinomas—existing evidence and evolving paradigms. Nat Rev Clin Oncol. 2013;10(9):534–44. https://doi.org/10.1038/nrclinonc.2013.132
Benson AB, Venook AP, Al-Hawary MM, Arain MA, Chen YJ, Ciombor KK, et al. Small Bowel Adenocarcinoma, Version 1.2020, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw. 2019;17(9):1109–33. https://doi.org/10.6004/jnccn.2019.0043
Bilimoria KY, Bentrem DJ, Wayne JD, Ko CY, Bennett CL, Talamonti MS. Small bowel cancer in the United States. Ann Surg. 2009;249(1):63–71. https://doi.org/10.1097/SLA.0b013e31818e4641
Lowenfels AB. Why are small-bowel tumours so rare? Lancet. 1973;1(7793):24–6.
Dabaja BS, Suki D, Pro B, Bonnen M, Ajani J. Adenocarcinoma of the small bowel. Cancer. 2004;101(3):518–26. https://doi.org/10.1002/cncr.20404
Negoi I, Paun S, Hostiuc S, Stoica B, Tanase I, Negoi RI, Beuran M. Most small bowel cancers are revealed by a complication. Einstein (Sao Paulo). 2015;13(4):500–5. https://doi.org/10.1590/S1679-45082015AO3380
Gustafsson BI, Siddique L, Chan A, Dong M, Drozdov I, Kidd M, Modlin IM. Uncommon cancers of the small intestine. Int J Oncol. 2008;33(6):1121–31.
Uusitalo E, Rantanen M, Kallionpää RA, Pöyhönen M, Leppävirta J, Ylä-Outinen H, et al. Distinctive cancer associations in patients with neurofibromatosis type 1. J Clin Oncol. 2016;34(17):1978–86. https://doi.org/10.1200/JCO.2015.65.3576
Scheffzek K, Ahmadian MR, Wiesmüller L, Kabsch W, Stege P, Schmitz F, Wittinghofer A. Structural analysis of the GAP-related domain from neurofibromin. EMBO J. 1998;17(15):4313–27. https://doi.org/10.1093/emboj/17.15.4313
Walker L, Thompson D, Easton D, Ponder B, Ponder M, Frayling I, Baralle D. A prospective study of neurofibromatosis type 1 cancer incidence in the UK. Br J Cancer. 2006;95(2):233–8. https://doi.org/10.1038/sj.bjc.6603227
Zöller ME, Rembeck B, Odén A, Samuelsson M, Angervall L. Tumors in patients with neurofibromatosis type 1. Cancer. 1997;79(11):2125–31.
Dupuis H, Chevalier B, Cardot-Bauters C, Jannin A, Cao CD, Ladsous M, et al. Endocrine manifestations and GIST in NF1. J Endocr Soc. 2023;7(8):bvad083. https://doi.org/10.1210/jendso/bvad083
Joensuu H. Gastrointestinal stromal tumor (GIST). Ann Oncol. 2006;17(Suppl 10):x280–6. https://doi.org/10.1093/annonc/mdl274
Heinrich MC, Corless CL, Duensing A, et al. PDGFRA activating mutations in GISTs. Science. 2003;299(5607):708–10. https://doi.org/10.1126/science.1079666
Mussi C, Schildhaus HU, Gronchi A, Wardelmann E, Hohenberger P. Therapeutic consequences for GIST patients with NF1. Clin Cancer Res. 2008;14(14):4550–5. https://doi.org/10.1158/1078-0432.CCR-08-0086
Maruta H, Burgess AW. Regulation of the Ras signalling network. Bioessays. 1994;16(7):489–96.
Latham A, Shia J, Patel Z, Reidy-Lagunes DL, Segal NH, Yaeger R, et al. DNA mismatch repair–deficient small bowel adenocarcinoma. Clin Cancer Res. 2021;27(5):1429–37. https://doi.org/10.1158/1078-0432.CCR-20-2892
Latham A, Srinivasan P, Kemel Y, Shia J, Bandlamudi C, Mandelker D, et al. Microsatellite instability and Lynch syndrome. J Clin Oncol. 2019;37(4):286–95. https://doi.org/10.1200/JCO.18.00283
Schrock AB, Devoe CE, McWilliams R, Sun J, Aparicio T, Stephens PJ, et al. Genomic profiling of small-bowel adenocarcinoma. JAMA Oncol. 2017;3(11):1546–53. https://doi.org/10.1001/jamaoncol.2017.1051
Hampel H, Frankel WL, Martin E, et al. Screening for Lynch syndrome. N Engl J Med. 2005;352(18):1851–60. https://doi.org/10.1056/NEJMoa043146

Biomedicine & Healthcare Research

All Articles

Concurrent gastrointestinal stromal tumor and small bowel adenocarcinoma in neurofibromatosis type 1: A rare case report

Explore Journal