Yeungnam Univ J Med.  2013 Dec;30(2):105-108.

A Case of Type 1 Neurofibromatosis Associated with Multiple Metastatic Gastrointestinal Stromal Tumors

• Jang HJ
• Koh SA
• Jeong DE
• Jung JY
• Goo EJ
• Lee KH
• Choi JH
• Hyun MS

Abstract

Type 1 neurofibromatosis (von Recklinghausen's disease, NF-1) is an autosomal-dominant neurocutaneous-disorder characterized by systemic cafe'-au-lait spots, multiple cutaneous neurofibromas, axillary or inguinal freckling, and Lisch nodules (pigmented iris hamartomas). Approximately 10-25% of NF1 patients have gastrointestinal neoplasms. Gastrointestinal stromal tumor (GIST) in patients with neurofibromatosis is most commonly found in the small bowel and the stomach, and approximately 60% of such patients have multiple tumors or multiple tumor sites. Although, the increased incidence of GIST in patients with neurofibromatosis is well documented in pathology literature in English, but has rarely been documented in Korea. Here, we report a case of multiple GISTs in a 48-year-old woman accompanied by NF1. She was admitted to Yeungnam University Hospital with complaints of melena and dyspnea. A contrast-enhanced computed tomography (CT) scan revealed that multiple soft tissue masses were occupying the entire peritoneal cavity. An ultrasonogram- guided biopsy was performed and the tumors were found to have been composed of tumor cells that were positive for c-kit protein. The patient was put on Imatinib mesylate treatment, and further follow-up will be carried out.

Keyword

Gastrointestinal stromal tumors; Neurofibromatosis

MeSH Terms

Biopsy
Dyspnea
Female
Follow-Up Studies
Gastrointestinal Neoplasms
Gastrointestinal Stromal Tumors*
Humans
Incidence
Iris
Korea
Melena
Mesylates
Middle Aged
Neurofibroma
Neurofibromatoses
Neurofibromatosis 1*
Pathology
Peritoneal Cavity
Proto-Oncogene Proteins c-kit
Stomach
Imatinib Mesylate
Mesylates
Proto-Oncogene Proteins c-kit