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Association of multiple gastrointestinal stromal tumor (GIST) and gastric schwannoma in a patient with type 1 neurofibromatosis

Association tumeurs stromales gastro-intestinales (GIST) et schwannome gastrique chez un patient porteur d’une neurofibromatose de type 1

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Journal Africain d'Hépato-Gastroentérologie

Abstract

Neurofibromatosis is a common autosomal dominant disease associated with a higher incidence of neoplasms than in the general population. We report the case of a 39-old-man affected by neurofibromatosis type 1 (NF-1) who was admitted for anemia and melena. Endoscopy of the upper part of the gastrointestinal tract demontrated polypoid formation with central ulceration of the jejunum. Biopsies were inconclusive. On laparotomy, main jejunal tumor and numeros mural nodules in the stomach and intestine with numerous small nodules in the peritoneum were found. A wedge resection of the largest tumor taking the mucosa was performed. Only three other small nodules from the jejunum and stomach were resected. Pathological exam concluded to GISTs (including the largest tumor) and one schwannoma. Our case highlight the fact that all lesions encountred in NF-1 patients must be as possible as resected for histopathological examination.

Résumé

La neurofibromatose est une maladie autosomique dominante associée à une incidence plus élevée de tumeurs que dans la population générale. Nous rapportons l’observation d’un homme âgé de 39 ans connu porteur d’une neurofibromatose de type 1 (NF-1) qui a été hospitalisé pour l’exploration d’une anémie et d’un méléna. L’endoscopie digestive haute a montré une formation polypoïde avec ulcération centrale du jéjunum. Les biopsies réalisées n’ont pas été concluantes. Une laparotomie était indiquée. Elle a montré, en plus de la tumeur jéjunale, plusieurs nodules de la paroi gastrique et de l’intestin grêle ainsi que de nombreux nodules du péritoine. Une résection cunéiforme de la plus grande tumeur jéjunale emportant la muqueuse a été effectuée. Seuls trois autres petits nodules du jéjunum et de l’estomac ont été réséqués. L’examen anatomopathologique a conclu à une GIST (incluant la tumeur jéjunale) et un schwannome. Notre cas illustre l’intérêt de l’examen anatomopathologique de toutes lésions rencontrées au cours d’une neurofibromatose de type 1.

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References

  1. Von Deimling A, Perry A. (2007) Neurofibromatosis type 1 familial tumour syndromes involving the nervous system. In: Louis DN, Ohgaki H, Wiestler OD, Cavenee WK (editors): WHO classification of tumours of the central nervous system. IARC: Lyon 206–9

    Google Scholar 

  2. Miettinen M, Fetsch JF, Sobin LH, Lasota J (2006) Gastrointestinal stromal tumors in patients with neurofibromatosis 1: a clinicopathologic and molecular genetic study of 45 cases. Am J Surg Pathol 30:90–6

    Article  PubMed  Google Scholar 

  3. Yantiss RK, Rosenberg AE, Sarran L, et al (2005) Multiple gastrointestinal stromal tumors in type I neurofibromatosis: a pathologic and molecular study. Mod Pathol 18:475–84

    Article  CAS  PubMed  Google Scholar 

  4. Kang DY, Park CK, Choi JS, et al (2007) Multiple gastrointestinal stromal tumors: Clinicopathologic and genetic analysis of 12 patients. Am J Surg Pathol 31:224–32

    Article  PubMed  Google Scholar 

  5. Lasota J, Wasag B, Dansonka-Mieszkowska A, et al (2003) Evaluation of NF2 and NF1 tumor suppressor genes in distinctive gastrointestinal nerve sheath tumors traditionally diagnosed as benign schwannomas: study of 20 cases. Lab Invest 83:1361–71

    Article  CAS  PubMed  Google Scholar 

  6. Voltaggio L, Murray R, Lasota J, Miettinen M (2012) Gastric schwannoma: a clinicopathologic study of 51 cases and critical review of the literature. Hum Pathol 43:650–9

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  7. Daimaru Y, Kido H, Hashimoto H, Enjoji M. (1988) Benign schwannoma of the gastrointestinal tract: a clinicopathologic and immunohistochemical study. Hum Pathol 19:257–64

    Article  CAS  PubMed  Google Scholar 

  8. Sekaran A, Lakhtakia S, Santosh D, et al (2013) Gastric schwannomas: rare gastric mesenchymal tumor. J Digest Endosc 4:44–8

    Google Scholar 

  9. Agaimy A, Märkl B, Kitz J, et al (2010) Peripheral nerve sheath tumors of the gastrointestinal tract: a multicenter study of 58 patients including NF1-associated gastric schwannoma and unusual morphologic variants. Virchows Arch 456:411–22

    Article  PubMed  Google Scholar 

  10. Miettinen M, Sobin LH, Lasota J (2005) Gastrointestinal stromal tumors of the stomach: a clinicopathologic, immunohistochemical, and molecular genetic study of 1765 cases with long-term follow-up. Am J Surg Pathol 29:52–68

    Article  PubMed  Google Scholar 

  11. Mussi C, Schildhaus HU, Gronchi A, et al (2008) Therapeutic consequences from molecular biology for gastrointestinal stromal tumor patients affected by neurofibromatosis type 1. Clin Cancer Res 14:4550–5

    Article  CAS  PubMed  Google Scholar 

  12. Andersson J, Sihto H, Meis-Kindblom JM, et al (2005) NF1-associated gastrointestinal stromal tumors have unique clinical, phenotypic, and genotypic characteristics. Am J Surg Pathol 29:1170–6

    Article  PubMed  Google Scholar 

  13. Wang SM, Chiang RA, Tzen CY, et al (2005) Spontaneous rupture of recurrent gastrointestinal stromal tumor associated with neurofibromatosis type 1. J Chin Med Assoc 68:538–41

    Article  PubMed  Google Scholar 

  14. Takazawa Y, Sakurai S, Sakuma Y, et al (2005) Gastrointestinal stromal tumors of neurofibromatosis type I (von Recklinghausen’s disease). Am J Surg Pathol 29:755–63

    Article  PubMed  Google Scholar 

  15. Yamamoto H, Tobo T, Nakamori M, et al (2009) Neurofibromatosis type 1-related gastrointestinal stromal tumors: a special reference to loss of heterozygosity at 14q and 22q. J Cancer Res Clin Oncol 135:791–8

    Article  CAS  PubMed  Google Scholar 

  16. Stewart DR, Corless CL, Rubin BP, et al (2007) Mitotic recombination as evidence of alternative pathogenesis of gastrointestinal stromal tumours in neurofibromatosis type 1. J Med Genet 44:e61

    Article  PubMed Central  PubMed  Google Scholar 

  17. Maruta H, Burgess AW. (1994) Regulation of the Ras signalling network. Bioessays 16:489–96

    Article  CAS  PubMed  Google Scholar 

  18. Maertens O, Prenen H, Debiec-Rychter M, et al (2006) Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients. Hum Mol Genet 15:1015–23

    Article  CAS  PubMed  Google Scholar 

  19. Lee JL, Kim JY, Ryu MH, et al (2006) Response to imatinib in KIT- and PDGFRA-wild type gastrointestinal stromal associated with neurofibromatosis type 1. Dig Dis Sci 51:1043–6

    Article  PubMed  Google Scholar 

  20. Kalender ME, Sevinc A, Tutar E, et al (2007) Effect of sunitinib on metastatic gastrointestinal stromal tumor in patients with neurofibromatosis type 1: a case report. World J Gastroenterol 13:2629–32

    Article  PubMed Central  PubMed  Google Scholar 

  21. Invernizzi R, Martinelli B, Pinotti G. (2008) Association of GIST, breast cancer and schwannoma in a 60-year-old woman affected by type-1 von Recklinghausen’s neurofibromatosis. Tumori 94:126–8

    PubMed  Google Scholar 

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Authors and Affiliations

  1. Department of pathology, CHU Habib Bourguiba, Sfax, Tunisia

    S. Charfi, R. Kallel, H. Mnif & T. Sellami-Boudawara

  2. Department of medical oncology, CHU Habib Bourguiba, Sfax, Tunisia

    I. Gargouri

  3. Department of radiology, CHU Habib Bourguiba, Sfax, Tunisia

    H. Abid

Authors
  1. S. Charfi
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  2. I. Gargouri
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  3. R. Kallel
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  4. H. Abid
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  5. H. Mnif
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  6. T. Sellami-Boudawara
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Correspondence to S. Charfi.

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Charfi, S., Gargouri, I., Kallel, R. et al. Association of multiple gastrointestinal stromal tumor (GIST) and gastric schwannoma in a patient with type 1 neurofibromatosis. J Afr Hepato Gastroenterol 9, 60–63 (2015). https://doi.org/10.1007/s12157-015-0586-8

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