Gastrointestinal bleeding in a pregnant woman: mucinous cystic neoplasm of pancreas mimicking gastrointestinal stromal tumor of stomach

A 38-year-old woman presented in early pregnancy with anemia due to an ulcerated gastric tumor which had the typical clinical presentation and endoscopic appearance of a gastric leiomyoma or gastrointestinal stromal tumor. At surgery this was subsequently found to be a mucinous cystic tumor of pancreas. Review of the literature shows that both gastrointestinal hemorrhage and infiltration of stomach are infrequent complications of this tumor.     

DOG1 is useful for diagnosis of KIT-negative gastrointestinal stromal tumor of stomach

Approximately 80%-95%of gastrointestinal stromal tumors(GISTs)show positive staining for KIT,while the other 5%-20%show negative staining.If the tumor is negative for KIT,but is positive for CD34,a histological diagnosis is possible.However,if the tumor is negative for KIT,CD34,S-100,and SMA,a definitive diagnosis is often challenging.Recently,Discovered on GIST-1(DOG1)has received considerable attention as a useful molecule for the diagnosis of GIST.DOG1,a membrane channel protein,is known to be overexpressed in GIST.Because the sensitivity and specificity of DOG1 are higher than those of KIT,positive staining for DOG1has been reported,even in KIT-negative GISTs.KITnegative GISTs most commonly arise in the stomach and are mainly characterized by epithelioid features histologically.We describe our experience with a rare case of a KIT-negative GIST of the stomach that was diagnosed by positive immunohistochemical staining for DOG1 in a patient who presented with severe anemia.Our findings suggest that immunohistochemical staining for DOG1,in addition to gene analysis,is useful for the diagnosis of KIT-negative tumors that are suspected to be GISTs.     

Long-term survival of a patient after resection of a gastrointestinal stromal tumor arising from the pancreas

BACKGROUND:Gastrointestinal stromal tumors (GISTs) may arise in any part of the gastrointestinal tract;extragastrointestinal locations are extremely rare.Only a few cases of extragastrointestinal stromal tumor arising from the pancreas were reported.None of the reports described a long-term follow-up of the patients.METHOD:This report describes an interesting and unusual case of GIST arising from the pancreas.RESULTS:A 74-year-old female presented with a palpable abdominal mass.CT scan showed a large mass 1...     

Skeletal muscle metastasis from a gastrointestinal stromal tumor: A case report

Rationale:Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract. Common sites for metastasis are the liver and peritoneum, whereas skeletal muscle metastases are rare.Patient concerns:A 59-year-old man with skeletal muscle metastasis was diagnosed during a period of adjuvant imatinib therapy following the recurrence of GIST of the small intestine.Diagnosis:The patient was diagnosed with skeletal muscle metastasis of GIST based on immunohistochemistry and molecular pathology analysis results.Intervention:Extensive resection of the left thigh tumor was performed. The patient underwent whole-exome sequencing of tissue examination. The results suggest that resistance to imatinib may have been developed, and the patient was therefore administered sunitinib instead.Outcomes:Complete remission was observed following sunitinib therapy.Lessons:In cases of skeletal muscle metastasis diagnosed during a period of adjuvant imatinib therapy following the recurrence of a GIST of the small intestine, whole exome sequencing may be used to discover more gene variations.     

Scoring systems for differentiating gastrointestinal stromal tumors and schwannomas from leiomyomas in the stomach

There is no practical predictive model for the diagnosis of gastrointestinal stromal tumors (GISTs). To establish a practical predictive model for the diagnosis of subepithelial lesions in the stomach, we reviewed patients with GISTs (n = 89), schwannomas (n = 7), and leiomyomas (n = 28).The tumor was more frequently found along the gastric cardia in the leiomyoma group (57.1%) than in the GIST/schwannoma group (2.1%, P < .01). Contrast enhancement (57.3% vs 0%, P < .01) and intra-tumoral necrosis (34.4% vs 0.0%, P < .01) were more frequently observed in the GIST/schwannoma group than in the leiomyoma group. On endoscopic ultrasonography, 58.3% of GISTs/schwannomas showed uneven echogenicity, whereas the echogenicity was uneven in 21.4% of leiomyomas (P < .01). There were no differences between the tumor color and the presence or absence of ulcer formation, tumor bleeding, irregularity of the tumor margin, cystic spaces, and hyperechoic spots between the 2 groups. Based on these results, we developed a 2-step diagnostic algorithm for GISTs/schwannomas. The first step comprises 1 endoscopic feature: a cardiac or non-cardiac location. Tumors with a cardiac location were judged as leiomyomas and those with a non-cardiac location were judged as GISTs/schwannomas, with 96.9% sensitivity and 57.1% specificity for GIST/schwannoma diagnosis. The second step comprises a combination of endoscopic (non-cardiac location), radiologic (positive contrast enhancement and intra-tumoral necrosis), and endosonographic (uneven echogenicity) features for a total of 4 points. We assigned 1 point to each feature. Tumors with scores of 2 to 4 were judged as GISTs/schwannomas, with 81.3% sensitivity and 92.9% specificity for GIST/schwannoma diagnosis.Our predictive model will be a practical guide for the management of gastric subepithelial lesions.     

老年患者胃肠道间质瘤预后因素分析

目的 探讨老年胃肠道间质瘤(GIST)预后相关的临床及病理因素. 方法 根据Kaplan-Meier 法和Cox比例风险模型对收集到的44例GIST老年患者的预后与相关临床及病理因素进行回顾性评估分析.结果 根据Kaplan-Meier法单因素分析得知GIST的预后与肿瘤的生长部位、大小、核分裂像,以及GIST的生物学行为分级标准有关.根据多因素分析Cox比例风险模型得知肿瘤的大小、核分裂像、GIST的生物学行为分级标准是独立的预后因素. 结论 老年GIST患者的预后分析帮助制定患者的治疗策略,并有利于消除影响预后的危险因素.     

Cowden syndrome complicated by a gastrointestinal stromal tumor

To our knowledge, this is the first report of Cowden syndrome complicated by a gastrointestinal stromal tumor (GIST) of the small bowel. A 42‐year‐old female patient was found to have an abdominal mass that was diagnosed as the cause of anemia and was surgically extracted. The surgical specimen was found to be a GIST. During the same period, the patient underwent an endoscopic examination of the entire gastrointestinal tract. She was also diagnosed as having Cowden syndrome based on gastrointestinal polyps and skin, thyroid and breast lesions. Cowden syndrome is associated with germline mutations in the tumorsuppressor gene PTEN. PTEN expression may be essential to tumor growth and is a predictive biomarker of the prognosis of both diseases. The present report of such a case is expected to further the analysis of Cowden syndrome.     

Effect of a tyrosine kinase inhibitor STI571 in a patient with hepatic metastases from a duodenal gastrointestinal stromal tumor

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors. The molecular etiology is the result of mutations in the c-Kit gene. The mutant c-Kit proteins, which are activated without a stem cell factor, contribute to the tumor development. STI571 selectively inhibits c-Kit, BCR-ABL, and PDGFR tyrosine kinases. Based on this potential to inhibit critical c-Kit function in GISTs, case studies have reported effective outcomes following treatment with STI571. This case report describes a highly effective use of STI571 in a 54-year-old woman with multiple liver metastases from a GIST originating in the duodenum.     

Long-term survival after enucleation of a giant esophageal gastrointestinal stromal tumor

Gastrointestinal stromal tumors (GISTs) are rare mesenchymal neoplasms of the gastrointestinal tract. Less than 1% occurs in the esophagus. Surgery is the primary treatment for patients with GISTs. We report a 29-year-old male was admitted after the detection of a posterior mediastinal mass during work-up with routine examination. He did not have any disease-related symptoms. The physical examination was unremarkable. Chest computed tomographic scan, the barium esophagogram and endoscopic esophageal ultrasound showed benign neoplasm. The patient was performed an enucleation surgery through the right posterolateral thoracotomy. The pathology revealed a 13.0 cm × 12.0 cm × 5.0 cm mass. The tumor was CD117 (C-kit), PDGFRA and DOG1 positive. These findings were consistent with a GIST of the esophagus. So the diagnosis of GIST of esophagus was confirmed. The pathological diagnosis of low grade of GIST of esophagus was confirmed. The patient has no evidence of recurrence and is in good clinical conditions up-to date, five years after surgery.     

内镜黏膜下剥离术治疗胃肠间质瘤的疗效分析

[目的]探讨内镜黏膜下剥离术(endoscopic submucosal dissection,ESD)治疗胃肠间质瘤(gastrointestinal stromal tumors,GIST)的疗效。[方法]回顾性分析运用ESD治疗的27例GIST患者的临床资料。[结果]27例均为单发肿瘤,直径为5~30(16±8)mm,其中位于胃底部13例,胃体8例,胃窦部3例,贲门部2例,直肠1例。27例均内镜下成功完成手术,手术时间为35~180(75±43.6)min,术中出血量较少,平均(10±8.2)ml,4例术中出现穿孔,其中1例主动穿孔行内镜下胃壁全层切除术,均予金属夹成功夹闭。术后病理提示26例为GIST,1例为平滑肌瘤。术后随访6~24个月,所有患者未见肿瘤复发及转移。[结论]ESD治疗GIST是安全、有效的。     

Endoscopic ultrasound-guided fine-needle aspiration biopsy for the diagnosis of gastrointestinal stromal tumors in the stomach

Background For the diagnosis of gastric submucosal tumors (SMTs), endoscopic ultrasound (EUS) alone does not reveal the complete pathology, such as the degree of malignancy, and EUS-guided fine-needle aspiration biopsy (EUS-FNAB) has been reported to be more useful. Recently, most cases initially diagnosed as leiomyosarcomas have received further study with immunohistochemical staining and have been given the new diagnosis of gastrointestinal stromal tumors (GISTs). The degree of malignancy of GISTs differs widely in clinical aspects. In this study, we examined whether EUS-FNAB was useful in diagnosing GISTs and differentiating their degrees of malignancy.Methods From January 1997 to March 2002, 21 cases of gastric GISTs were diagnosed from the immunohistochemical staining of specimens resected at Aichi Cancer Center Hospital. Of these 21 patients, 14 (5 with high-grade malignancy and 9 with low-grade malignancy) underwent EUS-FNAB preoperatively, and were examined further: their EUS-FNAB specimens were submitted for additional immunohistochemical testing.Results The EUS-FNAB specimens from all patients were positive for c-kit and CD34 immunohistochemical testing, coinciding with the staining results of the resected specimens. The MIB-1 labeling indices in specimens of high-grade malignancy were significantly higher than those of low-grade malignancy. If we assumed that a tumor with an MIB-1 labeling index of more than 5% was a high-grade malignancy, the diagnostic accuracy was 85.7%.Conclusions The EUS-FNAB procedure is a useful tool for diagnosing GISTs of the stomach with immunohistochemical staining. When used with MIB-1 staining, the procedure may indicate GIST prognosis and influence decisions regarding therapeutic strategies.     

Gastric carcinoid tumor in a patient with a past history of gastrointestinal stromal tumor of the stomach

Gastrointestinal stromal tumor is the most common mesenchymal tumor in the gastrointestinal tract. It may coexist with other type of cancers, and if so, the tumors usually involve the stomach. The most common associated cancers are gastrointestinal carcinomas. We report a 65-year-old woman with a history of gastric gastrointestinal stromal tumor who had undergone subtotal segmental gastrectomy. New polypoid lesions were detected on a follow-up gastroscopy one year later. The lesions were biopsied and found to be carcinoid tumors. There was serum hypergastrinemia, and type 1 gastric carcinoid tumor was diagnosed. A total gastrectomy was performed. Pathologic examination revealed both carcinoid tumors and a recurrent gastrointestinal stromal tumor.     

胃肠道间质瘤治疗新方法的探讨

目的探讨胃镜与腹腔镜双镜联合及内镜黏膜下挖除术(endoscopic submucosal excavation,ESE)治疗胃肠道间质瘤的效果和安全性。方法经胃(肠)镜、超声内镜及病理学、免疫组化证实的胃肠道间质瘤患者37例,对其中28例患者采用ESE、9例采用胃镜与腹腔镜双镜联合进行瘤体切除。结果 ESE及双镜联合治疗的所有患者均完整切除瘤体,两种方法均无术中及术后迟发性出血、剧烈腹痛等并发症,瘤体位于贲门者,切除后患者贲门功能保持良好,术后随访无复发。结论胃镜与腹腔镜双镜联合技术及ESE是治疗胃肠道间质瘤的微创、安全、有效的新方法。     

Malignant tumor,of the gastrointestinal stromal tumor type,in the greater omentum

We report herein a rare case of gastrointestinal stromal tumor (GIST) type, arising from the greater omentum. A 65-year-old man who had a large abdominal tumor was referred to our hospital. Ultrasonography (US) and computed tomography (CT) scans showed a mass occupying almost the entire abdomen anterior to the bowel loops. Abdominal angiography showed that the main feeding artery of the tumor was the right gastroepiploic artery. The preoperative diagnosis was suspected gastric leiomyosarcoma. Laparotomy revealed a large mass arising from the greater omentum, and the tumor seemed to be completely excised. Histopathological and immunohistochemical studies indicated the tumor had the same characteristics as GIST. Twelve months after the operation, the tumor recurred in the peritoneal cavity at the site of the stomach, and was associated with multiple liver metastases. The patient died of hypovolemic shock. Necropsy revealed that rupture of one of the metastatic liver tumors had resulted in a massive intraperitoneal hemorrhage.     

伊马替尼治疗胃肠间质瘤并瘢痕疙瘩增生一例

甲磺酸伊马替尼是一种选择性酪氨酸激酶抑制剂,能在细胞水平上抑制bcr-abl、PDGF受体、SCF、c-Kit等受体的酪氨酸激酶,抑制细胞增殖、诱导细胞凋亡,是治疗胃肠道间质瘤一线药物。最常见的不良反应有水肿、皮疹、疲劳、恶心、中性粒细胞减少,但其促进患者瘢痕疙瘩增生尚未有报道,现报道如下。     

Synchronous primary adenocarcinoma,mucosa-associated lymphoid tissue lymphoma and a stromal tumor in a Helicobacter pylori-infected stomach

We report the case of a 78-year-old man with Helicobacter pylori infection and three primary neoplasms of the stomach: adenocarcinoma, mucosa-associated lymphoid tissue (MALT) lymphoma and a gastrointestinal stromal cell tumor. Helicobacter pylori infection is associated with gastric carcinoma and MALT lymphoma, although their simultaneous occurrence is rare. Gastrointestinal stromal cell tumors have not been associated with infection to date. This appears to be the first report of the synchronous occurrence of these three gastric tumors.