We sincerely thank the patient and his family for their participation in this study.
Author contributions
HTTL: Visualization, Writing—original draft. HTT: Investigation. LKN: Investigation. LTD: Investigation. QNKL: Investigation. THNH: Visualization, Writing—review & editing. HHN: Conceptualization, Writing—review & editing, Supervision. The submitted version has been read and approved by all authors.
Conflicts of interest
The authors declare that they have no conflicts of interest.
Ethical approval
The study was approved by the Institutional Review Board of the Institute of Genome Research, Vietnam Academy of Science and Technology (No. 4-2024/NCHG-HĐĐĐ). This study complies with the Declaration of Helsinki (2013 version).
Consent to participate
Informed consent to participate in the study was obtained from the participants and the parents of the participants.
Consent to publication
Informed consent to publication in the study was obtained from the participants and their parents.
Availability of data and materials
The datasets supporting the study can be provided by the corresponding author upon reasonable request.
Open Exploration maintains a neutral stance on jurisdictional claims in published institutional affiliations and maps. All opinions expressed in this article are the personal views of the author(s) and do not represent the stance of the editorial team or the publisher.
References
Brems H, Beert E, de Ravel T, Legius E. Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1.Lancet Oncol. 2009;10:508–15. [DOI] [PubMed]
Jett K, Friedman JM. Clinical and genetic aspects of neurofibromatosis 1.Genet Med. 2010;12:1–11. [DOI] [PubMed]
Tonsgard JH. Clinical manifestations and management of neurofibromatosis type 1.Semin Pediatr Neurol. 2006;13:2–7. [DOI] [PubMed]
Hirbe AC, Gutmann DH. Neurofibromatosis type 1: a multidisciplinary approach to care.Lancet Neurol. 2014;13:834–43. [DOI] [PubMed]
Shang L, Fang Z, Liu J, Du F, Jing H, Xu Y, et al. Case report of ascending colon cancer and multiple jejunal GISTs in a patient with neurofibromatosis type 1 (NF1).BMC Cancer. 2019;19:1196. [DOI] [PubMed] [PMC]
Zografos GN, Vasiliadis GK, Zagouri F, Aggeli C, Korkolis D, Vogiaki S, et al. Pheochromocytoma associated with neurofibromatosis type 1: concepts and current trends.World J Surg Oncol. 2010;8:14. [DOI] [PubMed] [PMC]
Hungerford CH, Hughes PR. Do individuals with NF1 benefit from colon cancer screening at an earlier age?Evidence-Based Pract. 2021;24:22–3. [DOI]
Zinnamosca L, Petramala L, Cotesta D, Marinelli C, Schina M, Cianci R, et al. Neurofibromatosis type 1 (NF1) and pheochromocytoma: prevalence, clinical and cardiovascular aspects.Arch Dermatol Res. 2011;303:317–25. [DOI] [PubMed]
Hernandez FC, Sánchez M, Alvarez A, Díaz J, Pascual R, Pérez M, et al. A five-year report on experience in the detection of pheochromocytoma.Clin Biochem. 2000;33:649–55. [DOI] [PubMed]
Tsuchiya T, Iwaya Y, Iwaya M, Okamura T, Nagaya T, Umemura T. A Case of Multiple Perineuriomas in the Colon With Underlying Neurofibromatosis Type I.ACG Case Rep J. 2021;8:e00665. [DOI] [PubMed] [PMC]
Oktenli C, Gul D, Deveci MS, Saglam M, Upadhyaya M, Thompson P, et al. Unusual features in a patient with neurofibromatosis type 1: multiple subcutaneous lipomas, a juvenile polyp in ascending colon, congenital intrahepatic portosystemic venous shunt, and horseshoe kidney.Am J Med Genet A. 2004;127A:298–301. [DOI] [PubMed]
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al.; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.Genet Med. 2015;17:405–24. [DOI] [PubMed] [PMC]
Mo J, Moye SL, McKay RM, Le LQ. Neurofibromin and suppression of tumorigenesis: beyond the GAP.Oncogene. 2022;41:1235–51. [DOI] [PubMed] [PMC]
Bostancı MT, Yılmaz İ, Saydam M, Seki A. Solitary Juvenile Colonic Polyp Presenting Anaemia in Patients with Neurofibromatosis Type 1: A Case Report.Turk J Colorectal Dis. 2020;30:147–50. [DOI]
Krüger S, Kinzel M, Walldorf C, Gottschling S, Bier A, Tinschert S, et al. Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1.Eur J Hum Genet. 2008;16:62–72. [DOI] [PubMed]
Tian X, Wang Q, Cai W. A Novel Mutation in MYH Gene Associated with Aggressive Colorectal Cancer in a Child: A Case Report and Review of Literature.Onco Targets Ther. 2020;13:8557–65. [DOI] [PubMed] [PMC]
