Gastrointestinal stromal tumors in patients with neurofibromatosis 1: a clinicopathologic and molecular genetic study of 45 cases.

摘要: Gastrointestinal stromal tumors (GISTs), the specific KIT- or PDFGRA-signaling driven mesenchymal tumors, most commonly occur sporadically, but there seems to be some increased tendency for these develop in patients with neurofibromatosis 1 (NF1). The clinicopathologic profile, KIT, and PDGFRA mutation status long-term prognosis of GIST NF1 are incompletely characterized. In this study, we analyzed 45 who had GIST. There were 26 females 19 males a median age 49 years (10 lower than general). A great majority occurred jejunum ileum, multiple occurring 28 cases. Ten duodenal one gastric common presentations gastrointestinal bleeding anemia, many intermittent over several years. small mitotically inactive; only 7 mitotic activity >5/50 HPFs 15 >5 cm. Associated Cajal cell hyperplasia was common. One patient an intraabdominal peri-intestinal neurofibroma. Five 35 follow-up died metastatic disease; all tumor cm, rate HPFs, both; three located duodenum. presence not associated progressive disease. Most enjoyed good prognosis; 2 other NF1-associated (malignant peripheral nerve sheath brain tumor). None 16 from KIT exon 9, 11, 13, 17 12 18 as is typically seen sporadic GISTs, indicating that GISTs have different pathogenesis GISTs.