Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P42345 (mTOR)
 26,049 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 46-year-old female presents with a pelvic mass and is diagnosed as having a high-grade endometrial stromal sarcoma. During surgery, she is noted to have areas of intussusception of the small bowel secondary to large hamartomatous polyps. The patient had a previous history of small bowel obstruction secondary to what had been thought to be hyperplastic polyps but represented hamartomatous polyps on further review. Additional examination revealed the presence of subtle hyperpigmented macules on the fingers leading to a diagnosis of Peutz-Jeghers Syndrome (PJS). The diagnosis was confirmed by the presence of a germ-line STK11 mutation. Immunohistochemistry analysis of the tumor showed decreased expression of STK-11 as compared to one of the patient's hamartomatous polyps. Next generation sequencing of the tumor specimen failed to demonstrate a "second hit" somatic mutation in STK-11. This case represents the first case of endometrial stromal sarcoma associated with PJS and illustrates the importance of increased awareness of this condition among oncologists. PJS is associated with dysregulation of the mTOR pathway; treatment with an mTOR inhibitor was not effective in this case.
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PMID:High-grade endometrial stromal sarcoma as the initial presentation of an adult patient with Peutz-Jeghers Syndrome: a case report. 2564 62

We report on a 61-year-old man who was referred to the accident and emergency department with recurrent episodes of vomiting and diffuse abdominal pain for 1 week prior to admission. The patient also reported frequent constipation and intermittent melaena. He had undergone tumour nephrectomy for metastatic renal clear cell carcinoma 3 years before and had received sequential vascular endothelial growth factor receptor and mammalian target of rapamycin-targeted therapies. The abdominal computed tomography scan showed small bowel obstruction due to triple intussusception of the proximal jejunum and several large intra-luminal tumour masses. Intra-operative findings were five intramural masses 15 cm distal to the ligament of Treitz over a total length of 50 cm. A primary en bloc resection with an end-to-end anastomosis was carried out. The postoperative course was uneventful.
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PMID:Triple jejuno-jejunal intussusception due to metastatic renal cell carcinoma. 2588 69