Skip to main content

Advertisement

SpringerLink
Log in

Multiple gastrointestinal stromal tumors in neurofibromatosis type 1: Report of a case

  • Case Report
  • Published:
Surgery Today Aims and scope Submit manuscript

Abstract

This report presents a case of multiple gastrointestinal stromal tumors (GIST) with neurofibromatosis type 1 (NF1). A 68-year-old woman was admitted to the hospital because of a tumor close to the head of the pancreas. Imaging studies revealed submucosal tumors of the duodenum. The retroperitoneal tumor was diagnosed before surgery. Besides the main tumor in the duodenum, multiple small submucosal tumors were found in the duodenum and upper part of the jejunum during the operation. All of these tumors were resected. The histological diagnosis of all these tumors was GISTs. These tumors were immunohistochemically positive for KIT, but they demonstrated no mutation in c-kit exons 9, 11, 13, and 17, and platelet-derived growth factor receptor α exons 12 and 18. No recurrence occurred for a year after surgery.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Rasmussen SA, Friedman JM. NF1 gene and neurofibromatosis. Am J Epidemiol 2000;151:33–40.

    CAS  PubMed  Google Scholar 

  2. Anderson J, Sihto H, Meis-Kindblom JM, Joensuu H, Nupponen N, Kindblom LG. NF1-associated gastrointestinal stromal tumors have unique clinical, phenotypic, and genotypic characteristics. Am J Surg Pathol 2005;29:1170–1176.

    Article  Google Scholar 

  3. Yantiss RK, Rosenberg AE, Sarran L, Besmer P, Antonescu CR. Multiple gastrointestinal stromal tumors in type I neurofibromatosis: a pathologic and molecular study. Mod Pathol 2005;18:475–484.

    Article  CAS  PubMed  Google Scholar 

  4. Tsukuda K, Hirai R, Miyake T, Takagi S, Ikeda E, Kunitomo T, et al. The outcome of gastrointestinal stromal tumors (GISTs) after a surgical resection in our institute. Surg Today 2007;37:953–957.

    Article  PubMed  Google Scholar 

  5. Hochberg FH, Dasilva AB, Galdavini J, Richardson EP. Gastrointestinal involvement in von Recklinghausen’s neurofibromatosis. Neurology 1974;24:1144–1151.

    CAS  PubMed  Google Scholar 

  6. Takazawa Y, Sakurai S, Sakuma Y, Ikeda T, Yamaguchi J, Hashizume Y, et al. Gastrointestinal stromal tumors of neurofibromatosis type I (von Recklinghausen’s disease). Am J Surg Pathol 2005;29:755–763.

    Article  PubMed  Google Scholar 

  7. Nilson B, Anderson A, Ahlman H. Adjuvant and down-staging treatment with imatinib in gastrointestinal stromal tumors. J Surg Oncol 2008;98:145–146.

    Article  Google Scholar 

  8. Chen LL, Trent JC, Wu EF, Fuller GN, Ramdas L, Zhang W, et al. A missense mutation in KIT kinase domain 1 correlates with imatinib resistance in gastrointestinal stromal tumors. Cancer Res 2004;64:5913–5919.

    Article  CAS  PubMed  Google Scholar 

  9. Utsunomiya T, Okamoto M, Yano S, Kameyama T, Matsuyama A, Kuma S, et al. Secondary c-kit mutation in a recurrent gastrointestinal stromal tumor under long-term treatment with imatinib mesylate: report of a case. Surg Today 2008;38:65–67.

    Article  PubMed  Google Scholar 

  10. Miettinen M, Fetsch JF, Sobin LH, Lasota J. Gastrointestinal stromal tumors in patients with neurofibromatosis 1: a clinico-pathologic and molecular genetic study of 45 cases. Am J Surg Pathol 2006;30:90–96.

    Article  PubMed  Google Scholar 

  11. Hirota S, Isozaki K, Moriyama Y, Hashimoto K, Nishida T, Ishiguro S, et al. Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science 1998;279:577–580.

    Article  CAS  PubMed  Google Scholar 

  12. Cawthon RM, Weiss R, Xu GF, Viskochil D, Culver M, Stevens J, et al. A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell 1990;62:193–201.

    Article  CAS  PubMed  Google Scholar 

  13. Martin GA, Viskochil D, Bollag G, McCabe PC, Crosier WJ, Haubruck H, et al. The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21. Cell 1990;63:843–849.

    Article  CAS  PubMed  Google Scholar 

  14. Li Y, O’Connell P, Breidenbach HH, Cawthon R, Stevens J, Xu G, et al. Genomic organization of the neurofibromatosis 1 gene (NF1). Genomics 1995;25:9–18.

    Article  CAS  PubMed  Google Scholar 

  15. Xu GF, O’Connell P, Viskochil D, Cawthon R, Robertson M, Culver M, et al. The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell 1990;62:599–608.

    Article  CAS  PubMed  Google Scholar 

  16. Maertens O, Prenen H, Debiec-Rychter M, Wozniak A, Sciot R, Pauwels P, et al. Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients. Hum Mol Genet 2006;15:1015–1023.

    Article  CAS  PubMed  Google Scholar 

  17. Badache A, Muja N, De Vries GH. Expression of Kit in neurofibromin-deficient human Schwann cell: role in Schwann cell hyperplasia associated with type 1 Neurofibromatosis. Oncogene 1998;17:795–800.

    Article  CAS  PubMed  Google Scholar 

  18. Patrakitkomjorn S, Kobayashi D, Morikawa T, Wilson MM, Tsubota N, Irie A, et al. Neurofibromatosis type 1 (NF1) tumor suppressor, neurofibromin, regulates the neuronal differentiation of PC12 cells via its associating protein, CRMP-2. J Biol Chem 2008;283:9399–9413.

    Article  CAS  PubMed  Google Scholar 

  19. Kinoshita K, Hirota S, Isozaki K, Ohashi A, Nishida T, Kitamura Y, et al. Absence of c-kit gene mutations in gastrointestinal stromal tumours from neurofibromatosis type 1 patients. J Pathol 2004;202:80–85.

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Gastroenterological Surgery, Kumamoto University, 1-1-1 Honjo, Kumamoto, 860-8556, Japan

    Kotaro Hirashima, Hiroshi Takamori, Masahiko Hirota, Hiroshi Tanaka, Atsushi Ichihara, Yasuo Sakamoto, Yoshiaki Ikuta, Ryu-Ichi Karashima, Masayuki Watanabe & Hideo Baba

  2. Department of Surgical Pathology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, 860-8556, Japan

    Kotaro Hirashima & Ken-Ichi Iyama

Authors
  1. Kotaro Hirashima
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Hiroshi Takamori
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Masahiko Hirota
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Hiroshi Tanaka
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Atsushi Ichihara
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Yasuo Sakamoto
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Yoshiaki Ikuta
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Ryu-Ichi Karashima
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Masayuki Watanabe
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. Ken-Ichi Iyama
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. Hideo Baba
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Hirashima, K., Takamori, H., Hirota, M. et al. Multiple gastrointestinal stromal tumors in neurofibromatosis type 1: Report of a case. Surg Today 39, 979–983 (2009). https://doi.org/10.1007/s00595-009-3963-3

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00595-009-3963-3

Key words

Search

Navigation