Skip to main content

Advertisement

SpringerLink
Log in

Malignant peripheral nerve sheath tumor of the colon in a patient with von Recklinghausen’s disease: report of a case

  • Case Report
  • Published:
Clinical Journal of Gastroenterology Aims and scope Submit manuscript

Abstract

Malignant peripheral nerve sheath tumor (MPNST) arising from the colon is an extremely rare clinical entity. We report one such case of an adult female with neurofibromatosis type I who presented with pain and a lump in her abdomen. A computed tomographic scan revealed a 10 × 8-cm mass in the splenic flexure of her colon that was compressing its lumen, but the results of a colonoscopy were normal. Segmental resection of the left colon was performed based on the clinical possibility of gastrointestinal stromal tumor. However, on histopathological examination and immunohistochemical staining, the final diagnosis came out to be MPNST. This case highlights that, although rare, the possibility of MPNST should be considered when dealing with extramucosal colonic wall tumors.

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

Fig. 1
Fig. 2
Fig. 3
Fig. 4
Fig. 5

Similar content being viewed by others

References

  1. Wanebo JE, Malik JM, VandenBerg SR, Wanebo JH, Driesen N, Persing JA. Malignant peripheral nerve sheath tumors. A clinicopathologic study of 28 cases. Cancer. 1993;71:1247–53.

    Article  PubMed  CAS  Google Scholar 

  2. Lee YJ, Moon H, Park ST, Ha WS, Choi SG, Hong SC, et al. Malignant peripheral nerve sheath tumor arising from the colon in a newborn: report of a case and review of the literatures. J Pediatr Surg. 2006;41:e19–22.

    Article  PubMed  Google Scholar 

  3. Miettinen M, Shekitka KM, Sobin LH. Schwannoma in the colon and rectum. Am J Surg Pathol. 2001;25:846–55.

    Article  PubMed  CAS  Google Scholar 

  4. D’Agostino AN, Soule EH, Miller RH. Sarcoma of the peripheral nerves and somatic soft tissues associated with multiple neurofibromatosis (Von Recklinghausen’s disease). Cancer. 1963;16:1015–27.

    Article  PubMed  Google Scholar 

  5. Cashen DV, Parisien RC, Raskin K, Hornicek FJ, Gebhardt MC, Mankin HJ. Survival data for patients with malignant schwannoma. Clin Orthop Relat Res. 2004;426:69–73.

    Article  PubMed  Google Scholar 

  6. Ghosh BC, Ghosh L, Huvos AG, Fortner JG. Malignant schwannoma. A clinicopathologic study. Cancer. 1973;31:184–90.

    Article  PubMed  CAS  Google Scholar 

  7. Tucker T, Wolkenstein P, Revuz J, Zeller J, Friedman JM. Association between benign and malignant peripheral nerve sheath tumors in NF1. Neurology. 2005;65:205–11.

    Article  PubMed  CAS  Google Scholar 

  8. Ferner RE, Gutmann DH. International consensus statement on malignant peripheral nerve sheath tumors in neurofibromatosis. Cancer Res. 2002;62:1573–7.

    PubMed  CAS  Google Scholar 

  9. Porter DE, Prasad V, Foster L, Dall GF, Birch R, Grimer RJ. Survival in malignant peripheral nerve sheath tumours: a comparison between sporadic and neurofibromatosis type 1-associated tumours. Sarcoma. 2009;2009:756395. doi:10.1155/2009/756395.

    Article  PubMed  CAS  Google Scholar 

  10. Kolberg M, Høland M, Agesen TH, Brekke HR, Liestøl K, Hall KS, et al. Survival meta-analyses for >1800 malignant peripheral nerve sheath tumor patients with and without neurofibromatosis type 1. Neuro Oncol. 2013;15:135–47. doi:10.1093/neuonc/nos287.

    Article  PubMed  CAS  Google Scholar 

  11. Masocco M, Kodra Y, Vichi M, Conti S, Kanieff M, Pace M, et al. Mortality associated with neurofibromatosis type 1: a study based on Italian death certificates (1995–2006). Orphanet J Rare Dis. 2011;25(6):11. doi:10.1186/1750-1172-6-11.

    Article  Google Scholar 

  12. Basile U, Cavallaro G, Polistena A, Giustini S, Orlando G, Cotesta D, et al. Gastrointestinal and retroperitoneal manifestations of type 1 neurofibromatosis. J Gastrointest Surg. 2010;14:186–94. doi:10.1007/s11605-009-0940-5.

    Article  PubMed  Google Scholar 

  13. Catania G, Puleo C, Cardì F, Catalano F, Iuppa A, Buffone A. Malignant schwannoma of the rectum: a clinical and pathological contribution. Chir Ital. 2001;53:873–7.

    PubMed  CAS  Google Scholar 

  14. Manger T, Pross M, Haeckel C, Lippert H. Malignant peripheral nerve sheath tumor of the esophagus. Dig Surg. 2000;17:627–31.

    Article  PubMed  CAS  Google Scholar 

  15. Bees NR, Ng CS, Dicks-Mireaux C, Kiely EM. Gastric malignant schwannoma in a child. British J Radiol. 1997;70:952–5.

    CAS  Google Scholar 

  16. Nozu T, Takahashi A, Asakawa H, Uehara A, Kohogo Y, Suzuki T. Malignant intestinal schwannoma: a case report and a review of the literature in Japan. Intern Med. 1995;34:1101–5.

    Article  PubMed  CAS  Google Scholar 

  17. Schwartz DA. Malignant schwannoma occurring with Schistosoma japonicum: a case report. Southeast Asian J Trop Med Public Health. 1982;13:601–5.

    PubMed  CAS  Google Scholar 

  18. Park YS, Lim SJ, Kim WH, Ham EK. Malignant peripheral nerve sheath tumor in descending colon. Korean J Pathol. 2002;36:179–83.

    Google Scholar 

  19. Hansen D, Pedersen A, Pedersen KM. Malignant intestinal schwannoma. Case report. Acta Chir Scand. 1990;156:729–32.

    PubMed  CAS  Google Scholar 

  20. Spurlock G, Knight S, Thomas N, Kiehl T, Guha A, Upadhyaya M. Molecular evolution of a neurofibroma to malignant peripheral nerve sheath tumor (MPNST) in an NF1 patient: correlation between histopathological, clinical and molecular findings. J Cancer Res Clin Oncol. 2010;136:1869–80. doi:10.1007/s00432-010-0846-3.

    Article  PubMed  CAS  Google Scholar 

  21. Thomas L, Mautner VF, Cooper DN, Upadhyaya M. Molecular heterogeneity in malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1. Hum Genomics. 2012;6:18. doi:10.1186/1479-7364-6-18.

    Article  PubMed  Google Scholar 

  22. Legius E, Dierick H, Wu R, Hall BK, Marynen P, Cassiman JJ, et al. TP53 mutations are frequent in malignant NF1 tumors. Genes Chromosomes Cancer. 1994;10:250–5.

    Article  PubMed  CAS  Google Scholar 

  23. Leroy K, Dumas V, Martin-Garcia N, Falzone MC, Voisin MC, Wechsler J, et al. Malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1: a clinicopathologic and molecular study of 17 patients. Arch Dermatol. 2001;137:908–13.

    PubMed  CAS  Google Scholar 

  24. Taubert H, Wurl P, Bache M, Meye A, Berger D, Holzhausen HJ, et al. The p53 gene in soft tissue sarcomas: prognostic value of DNA sequencing versus immunohistochemistry. Anticancer Res. 1998;18:183–7.

    PubMed  CAS  Google Scholar 

  25. Collin C, Godbold J, Hajdu S, Brennan M. Localized extremity soft tissue sarcomas an analysis of factors affecting survival. J Clin Oncol. 1987;5:601–12.

    PubMed  CAS  Google Scholar 

  26. Wong WW, Hirose T, Scheithauer BW, Schild SE, Gunderson LL. Malignant peripheral nerve sheath tumor: analysis of treatment outcome. Int J Radiat Oncol Biol Phys. 1998;42:351–60.

    Article  PubMed  CAS  Google Scholar 

  27. Casanova M, Ferrari A, Spreafico F, Luksch R, Terenziani M, Cefalo G, et al. Malignant peripheral nerve sheath tumors in children: a single institution twenty-year experience. J Pediatr Hematol Oncol. 1999;21:509–13.

    Article  PubMed  CAS  Google Scholar 

Download references

Disclosure

Conflict of Interest: The authors declare that they have no conflict of interest.

Human/Animal Rights: All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2008(5).

Informed Consent: Informed consent was obtained from all patients for being included in the study.

Author information

Authors and Affiliations

  1. Department of Surgery, Post Graduate Institute of Medical Sciences, 2452, Sector I, HUDA, Rohtak, 124001, India

    Sanjay Marwah, Jai Prakash Gurawalia, Kapil Dev Sheoran & Hansraj Ranga

  2. Department of Pathology, Post Graduate Institute of Medical Sciences, Rohtak, 124001, India

    Nisha Marwah & Sumiti Gupta

Authors
  1. Sanjay Marwah
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Jai Prakash Gurawalia
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Kapil Dev Sheoran
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Nisha Marwah
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Sumiti Gupta
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Hansraj Ranga
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Sanjay Marwah.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Marwah, S., Gurawalia, J.P., Sheoran, K.D. et al. Malignant peripheral nerve sheath tumor of the colon in a patient with von Recklinghausen’s disease: report of a case. Clin J Gastroenterol 6, 429–433 (2013). https://doi.org/10.1007/s12328-013-0422-x

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12328-013-0422-x

Keywords

Search

Navigation