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Case Report

Neurofibromatosis type 1 associated with pheochromocytoma and gastrointestinal stromal tumors: A case report and literature review

  • Authors:
    • Dongfeng Pan
    • Peifeng Liang
    • Hongyan Xiao
  • View Affiliations / Copyright

    Affiliations: Emergency Department, The People's Hospital of Ningxia Hui Autonomous Region, Yinchuan, Ningxia Hui Autonomous Region 750021, P.R. China, Department of Medical Statistics, The People's Hospital of Ningxia Hui Autonomous Region, Yinchuan, Ningxia Hui Autonomous Region 750021, P.R. China, Department of Pathology, The People's Hospital of Ningxia Hui Autonomous Region, Yinchuan, Ningxia Hui Autonomous Region 750002, P.R. China
  • Pages: 637-643
    |
    Published online on: June 1, 2016
       https://doi.org/10.3892/ol.2016.4670
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Abstract

Neurofibromatosis type 1 (NF1) is a genetic disorder associated with neurofibromin 1 (NF1) gene mutation, which generates an increased risk of variety of tumor types. The current study reports a case involving NF1, pheochromocytoma (PHEO) and gastrointestinal stromal tumors (GIST). A 56‑year‑old man presented with abdominal pain and polypnea. Clinical investigation revealed multiple diffuse soft‑tissue lesions throughout his body, and pigmented macules on the skin. Imaging analyses revealed thoracic scoliosis, multiple subcutaneous nodules in the abdomen and trunk, and a 7.0x7.7x8.9‑cm oval‑shaped, cystic mass in the left upper abdominal cavity. Immunohistochemical staining indicated that S‑100 protein and synaptophysin were highly expressed in adrenal gland neoplasm, whilst CD117 and CD34 were highly expressed in small intestine tumors. The overall clinical and pathological finding suggested a diagnosis of NF1, giant PHEO and small intestinal stromal tumor. In addition, a literature review was conducted to identify the specific clinical features of patients with this condition. Only 11 similar cases have been reported worldwide. In the present study, paroxysmal hypertension occurred in the majority of patients, and GISTs tended to be located in the small intestine. In addition, the present study demonstrated that many of the patients had a poor prognosis. Therefore, the present study indicates that NF1‑PHEO‑GIST is a special type tumor with varied clinical symptoms, which may be associated with an increased risk for poor prognosis; however, more studies are required to confirm this.
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Copy and paste a formatted citation
Spandidos Publications style
Pan D, Liang P and Xiao H: Neurofibromatosis type 1 associated with pheochromocytoma and gastrointestinal stromal tumors: A case report and literature review. Oncol Lett 12: 637-643, 2016.
APA
Pan, D., Liang, P., & Xiao, H. (2016). Neurofibromatosis type 1 associated with pheochromocytoma and gastrointestinal stromal tumors: A case report and literature review. Oncology Letters, 12, 637-643. https://doi.org/10.3892/ol.2016.4670
MLA
Pan, D., Liang, P., Xiao, H."Neurofibromatosis type 1 associated with pheochromocytoma and gastrointestinal stromal tumors: A case report and literature review". Oncology Letters 12.1 (2016): 637-643.
Chicago
Pan, D., Liang, P., Xiao, H."Neurofibromatosis type 1 associated with pheochromocytoma and gastrointestinal stromal tumors: A case report and literature review". Oncology Letters 12, no. 1 (2016): 637-643. https://doi.org/10.3892/ol.2016.4670
Copy and paste a formatted citation
x
Spandidos Publications style
Pan D, Liang P and Xiao H: Neurofibromatosis type 1 associated with pheochromocytoma and gastrointestinal stromal tumors: A case report and literature review. Oncol Lett 12: 637-643, 2016.
APA
Pan, D., Liang, P., & Xiao, H. (2016). Neurofibromatosis type 1 associated with pheochromocytoma and gastrointestinal stromal tumors: A case report and literature review. Oncology Letters, 12, 637-643. https://doi.org/10.3892/ol.2016.4670
MLA
Pan, D., Liang, P., Xiao, H."Neurofibromatosis type 1 associated with pheochromocytoma and gastrointestinal stromal tumors: A case report and literature review". Oncology Letters 12.1 (2016): 637-643.
Chicago
Pan, D., Liang, P., Xiao, H."Neurofibromatosis type 1 associated with pheochromocytoma and gastrointestinal stromal tumors: A case report and literature review". Oncology Letters 12, no. 1 (2016): 637-643. https://doi.org/10.3892/ol.2016.4670
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