A 14-year-old woman presented with anemic syndrome 8 months after menarche.
The hemogram showed microcytic anemia and severe hypochromatosis (hemoglobin 4.8 g/dl).
Red blood cells were transfused and oral iron was prescribed.
Panendoscopy showed multiple gastric lesions.
A year later, she underwent a partial gastrectomy with Billroth I anastomosis in another hospital. She was not controlled again during the following 9 years.
When she was 25, she consulted for weight loss.
The chest X-ray showed 4 pulmonary nodules: one of 3 cm with peripheral calcifications in the upper lobe of the right lung and 3 nodules in the left lung, 2 x 1.6 cm in the upper lobe, 2 x 2.5 cm in the middle lobe.
The heart and great vessels were normal and there was dorsal scoliosis of right convexity.
Panendoscopy showed esophageal polyposis, partial gastrectomy and multiple gastric polyposis.
Biopsy of the esophageal polyp mucosa showed mild inflammation and gastric mucosa marked inflammation.
The next year she had a normal pregnancy and delivery.
The patient was lost to follow-up, reappearing at 32 years for evaluation.
Panendoscopy showed multiple duodenal ulcers.
Biopsies showed hypertrophy of the esophageal muscular layer, inflammation of the gastric mucosa and mucosal hyperplasia in the duodenal glands.
A colon showed a small hyperplastic polyp in the ascending line.
A year later she was hospitalized for lipothymia.
A computed tomography (CT) of the chest and abdomen was performed, which showed a hypervascular mass in the submucosal wall with calcifications in the precarinal and infracarinal space, bilateral pulmonary nodules, some hepatic nodules, some
Panendoscopy evidenced multiple malformations and elevated lesions suggestive of submucosal tumors.
Histology showed mesenchymal proliferation of spindle cells suggestive of GIST, which immunohistochemistry confirmed.
Imatinib 400 mg/day was started.
In the following months, the patient presented several episodes of upper gastrointestinal bleeding requiring total gastrectomy.
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When the patient was 35 years old, she underwent surgery, finding 2 tumoral implants in the parietal peritoneum, multiple tumoral nodules in the greater omentum, ligament and more than 100 in the thickness of the liver.
In the stomach there was a large 18 x 25 cm tumor in its posterior face and another in the cardia.
Total gastrectomy and esophagojejunal anastomosis with Roux-en-Y were performed.
Biopsy of the resected tissues described a GIST in the gastric wall, metastasis in 2 perianal lymph nodes, submucosal myoma in the gastroesophageal junction and GIST metastasis in the parietal peritoneum.
Ten months later, the patient consulted due to medical care and was hospitalized.
Total bilirubin was 23.7 mg/dl, direct bilirubin:18,4 mg/dl, alkaline phosphatase: 820 U/L (VN: < 150), SGOT: 1,508 U/L,
CT showed that the liver was almost completely replaced by tumor lesions, numerous images of peritoneal metastases, bilateral pleural effusion and mild ascites.
The patient was sent home where she died shortly after.
