Greater omentum gastrointestinal stromal tumor with PDGFRA-mutation and hemoperitoneum
Greater omentum gastrointestinal stromal tumor with PDGFRA-mutation and hemoperitoneum
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DOI：
10.4251/wjgo.v4.i5.119
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发表时间：
2012-05-15
影响因子：
3
通讯作者：
Hiratsuka, Masahiro
中科院分区：
文献类型：
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作者：
Murayama, Yoko;Yamamoto, Masayuki;Hiratsuka, Masahiro
虽然胃肠道间质瘤(GIST)一般发生在消化道，但大网膜GIST非常罕见。我们报告第一例伴有新的血小板衍生生长因子受体a基因(PDGFRA)突变的成人大网膜GIST合并腹膜积血。1例43岁男性因急性腹痛入院治疗。腹部增强计算机断层扫描显示右侧腹膜腔内有巨大肿块，盆腔内有大量积液，提示有腹膜积血。我们诊断破裂为腹内肿瘤，并进行了紧急肿瘤切除和大网膜切除。肿瘤位于大网膜右侧远端，与胃壁不连续。肿瘤主要发生在大网膜。肿瘤直径约19 cm×12 cm×14 cm，重1529g，组织学显示肿瘤由高细胞密度的上皮样细胞组成，CD117、CD34阳性，S-100、α-平滑肌肌动蛋白阴性。高倍视野下有丝分裂为6/50。该病例显示PDGFRA基因第18外显子突变，其中846(Asp到Glu)替换，848(Asn到Lys)替换。这是首次报道大网膜GIST中的PDGFRA突变，这可能在该病例的肿瘤发生中起重要作用。根据这些发现，肿瘤被诊断为主要发生在大网膜的高危GIST。患者接受伊马替尼400 mg/d的辅助化疗，随访24个月，无复发迹象。(C)2012年白石登。版权所有。
Although gastrointestinal stromal tumor (GIST) occurs generally in the digestive tract, omental GIST is very rare. We report the first case of an adult greater omental GIST with a new platelet-derived growth factor receptor a gene (PDGFRA)-mutation with hemoperitoneum. A 43-year-old man was admitted to our hospital complaining of acute abdominal pain. Abdominal contrast-enhanced computed tomography revealed a huge mass in the right abdominal cavity, and a large accumulation of fluid in the pelvic cavity, suggesting hemoperitoneum. We diagnosed the rupture as an intra-abdominal tumor, and an emergency tumorectomy was performed with resection of the greater omentum. This tumor was located in the distal right side of the greater omentum, and showed no continuity with the gastric wall. The tumor occurred primarily in the greater omentum. The resected tumor was about 19 cm x 12 cm x 14 cm in diameter, and weighed 1529 g. Histologically, the tumor was composed of epithelioid-shaped cells with high cellularity, and was positive for CD117 and CD34, and negative for S-100, alpha-smooth muscle actin. The mitosis was 6/50 under high power field. This case showed exon 18 mutation of PDGFRA with 846 (Asp to Glu) substitution, 848 (Asn to Lys) substitution. This is the first report of this PDGFRA mutation in omental GIST, and this might play an important role in the tumorigenesis of this case. Based on these findings, the tumor was diagnosed as high risk GIST primarily occurring in the greater omentum. The patient was treated with imatinib at a dose of 400 mg/d as adjuvant chemotherapy, and has been followed up for 24 mo with no evidence of recurrence. (C) 2012 Baishideng. All rights reserved.