A Case of Type 1 Neurofibromatosis Associated with Multiple Metastatic Gastrointestinal Stromal Tumors / 영남의대학술지
Yeungnam University Journal of Medicine
;
: 105-108, 2013.
Article
in Korean
| WPRIM
| ID: wpr-194927
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pathology
/
Peritoneal Cavity
/
Stomach
/
Biopsy
/
Iris
/
Melena
/
Incidence
/
Follow-Up Studies
/
Neurofibromatosis 1
/
Neurofibromatoses
Type of study:
Incidence study
/
Observational study
/
Prognostic study
/
Risk factors
Limits:
Female
/
Humans
Country/Region as subject:
Asia
Language:
Korean
Journal:
Yeungnam University Journal of Medicine
Year:
2013
Type:
Article
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