Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumor of the gastrointestinal tract. The most common primary sites for GISTs are the stomach (60%) and the small intestine (30%). We reported one case of GIST revealing multiple endocrine neoplasia type 1 (MEN1).

A 59-year-old female admitted for prolonged fever with cutaneous lesions. The physical exam revealed epigastric pain. The abdominal ultrasonography showed two masses located in the left hypochondrium (intersplenorenal) and epigastric. The abdominal CT scan showed the masses in the splenic hilum and the small gastric curvature. The fine-needle aspiration biopsy concluded to a double location of a stromal tumor. Their immunohistochemical profile was KIT positive. The cuatneous lesions biopsy was inconclusive. The cervico-thoracic CT scan revealed two metastatic pulmonary nodules. Medical treatment using Imatinib (Glivec=400mg/d) was indicated. However, one year later the Glivec treatment does not result in complete response. Moreover, during the hospitalization, blood investigations revealed a severe hypercalcemia of 2,96mmol/l. The diagnosis of primary hyperparathyroidism was confirmed with high level of parathyroid hormone (PTH=217pg/mL). The neck ultrasonography showed a parathyroid adenoma. A multiple endocrine neoplasia type 1 was suspected. The MRI concluded to a microadenoma (3mm). The assessment of MEN1 gene mutation was not documented.

Our patient represents an undescribed combination of the GIST with MEN 1. Occurrence of GIST could be consistent with the possibility that this neoplasm arose by a mechanism related to the MEN1 gene.