gastrointestinal stromal tumor (gist)

胃肠道间质瘤 (GIST)
  • 文章类型: Case Reports
    背景:腹腔镜和内窥镜联合非暴露技术(CLEAN-NET)是一种腹腔镜和内窥镜协同手术(LECS)。它结合了腹腔镜胃切除术和内镜技术,用于胃肿瘤的局部切除,如胃肠道间质瘤(GIST),手术切缘很小。传统的CLEAN-NET外科手术是复杂的,需要小心的技术来保存贲门,特别是在附近的病变的情况下。我们描述了一个患者的情况,该患者接受了改良的CLEAN-NET入路,并在肿瘤底部周围进行了半圆形的浆膜层切口,与传统CLEAN-NET中的圆形浆膜层不同:在肿瘤周围保持粘膜连续性,作为避免术中肿瘤扩散的屏障。
    方法:一名43岁的妇女因贲门附近的胃粘膜下肿瘤被转诊到我院,在体检中发现。根据内镜超声引导下细针穿刺的结果,该患者被诊断为胃GIST。改良的CLEAN-NET在card门相对侧的浆膜层的半圆形切口进行,使外科手术简单,并尽量减少胃壁的部分切除,包括肿瘤,同时保留贲门。手术时间为147分钟,术前失血量为3mL,术后住院时间为9天。切除的标本显示胃壁最小切除,包括肿瘤.贲门和胃神经被保留下来,术后进食良好。
    结论:改良的CLEAN-NET半规型浆膜层剥离术是一种简单可靠的贲门附近GIST手术方法。
    BACKGROUND: The combination of laparoscopic and endoscopic approaches to neoplasia with a non-exposure technique (CLEAN-NET) is a laparoscopic and endoscopic cooperative surgery (LECS). It combines laparoscopic gastric resection and endoscopic techniques for local resection of gastric tumors, such as gastrointestinal stromal tumors (GIST), with minimal surgical margins. A conventional CLEAN-NET surgical procedure is complex, requiring careful techniques to preserve the cardia, particularly in case of nearby lesions. We describe the case of a patient who underwent a modified CLEAN-NET approach with a semi-circular seromuscular layer incision surrounding the base of the tumor, different from a circular shape seromuscular layer in the conventional CLEAN-NET: around the tumor to preserve mucosal continuity, which acts as a barrier to avoid intraoperative tumor dissemination.
    METHODS: A 43-year-old woman was referred to our hospital because of a gastric submucosal tumor near the cardia, detected on medical examination. The patient was diagnosed with gastric GIST based on the results of endoscopic ultrasound-guided fine-needle aspiration. Modified CLEAN-NET was performed with a semicircular incision of the seromuscular layer on the opposite side of the cardia, making the surgical procedure simple and minimizing partial resection of the gastric wall, including the tumor, while preserving the cardia. The operative time was 147 min, preoperative blood loss volume was 3 mL, and postoperative hospital stay was 9 days. The resected specimen revealed a minimal resection of the gastric wall, including the tumor. The cardia and gastric nerves were preserved, and the postoperative food intake was good.
    CONCLUSIONS: The modified CLEAN-NET with semicircular seromuscular layer dissection is a simple and reliable surgical procedure for GIST near the cardia.
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  • 文章类型: Case Reports
    胃肠道间质瘤(GIST)是影响胃和小肠的肉瘤,以琥珀酸脱氢酶B(SDHB)丢失为特征的罕见亚型构成了重大的诊断和治疗挑战。一名62岁的体重减轻和腹痛的男子被诊断出患有胃GIST,显示SDHB丢失。伊马替尼的初始治疗减少了肿瘤的大小,但手术没有发现肿瘤残留.尽管伊马替尼佐剂,复发发生,需要进一步的手术干预。虽然GIST通常受益于手术和酪氨酸激酶抑制剂(TKIs),那些有SDHB损失的人对TKIs有抵抗力,需要不同的管理方法。该病例强调了对SDHB缺陷型GIST进行手术干预的重要性,以及对该亚型的有效治疗方法进行持续研究的必要性。
    Gastrointestinal stromal tumors (GISTs) are sarcomas affecting the stomach and small intestine, with a rare subtype characterized by succinate dehydrogenase B (SDHB)-loss posing significant diagnostic and therapeutic challenges. A 62-year-old man with weight loss and abdominal pain was diagnosed with a gastric GIST showing SDHB-loss. Initial treatment with Imatinib reduced the tumor size, but surgery revealed no residual tumor. Despite adjuvant Imatinib, recurrence occurred, necessitating further surgical intervention. While GISTs typically benefit from surgery and tyrosine kinase inhibitors (TKIs), those with SDHB-loss are resistant to TKIs, requiring a different management approach. This case emphasizes the importance of surgical intervention for SDHB-deficient GISTs and the need for ongoing research into effective treatments for this subtype.
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  • 文章类型: Case Reports
    内镜粘膜下剥离术(ESD)被认为对早期胃肠道癌症患者具有治愈性。然而,这是一项技术上具有挑战性的手术,耗时长,并伴有出血和穿孔等并发症.已经开发了牵引装置和技术来减轻这些风险并减少手术时间。大多数牵引装置在新西兰都没有,由于成功结果所需的精度,牵引技术尚未被广泛使用。我们报告了在新西兰进行的第一例牵引辅助ESD治疗胃粘膜下肿瘤。使用带有橡皮筋牵引技术的夹子成功执行了该程序。病灶全部切除,组织学证实R0,治愈性切除。没有并发症,总手术时间为54分钟。总之,牵引技术可以有效地用于粘膜下通路困难的病变的ESD。它们有助于更安全的解剖和减少手术时间。
    Endoscopic submucosal dissection (ESD) is considered curative for patients with early gastrointestinal cancers. However, it is a technically challenging procedure that can be time-consuming and associated with complications such as bleeding and perforation. Traction devices and techniques have been developed to mitigate these risks and reduce procedure times. Most traction devices are unavailable in New Zealand, and traction techniques have not been widely utilized due to the precision required for successful outcomes. We report the first case of traction-assisted ESD performed in New Zealand for a gastric submucosal tumor. The procedure was successfully performed using the clip with rubber band traction technique. The lesion was resected en bloc, and histology confirmed an R0, curative resection. There were no complications, and the total procedure time was 54 minutes. In conclusion, traction techniques can be effectively employed for ESD in lesions with difficult submucosal access. They contribute to safer dissections and reduced procedure times.
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  • 文章类型: Case Reports
    胃肠道间质瘤(GIST)是最常见的消化道间质瘤,手术和酪氨酸激酶抑制剂(TKI)治疗是其主要治疗选择。然而,长期使用TKIs可能导致耐药性,这对患者的长期生存提出了挑战。我们探索经导管动脉化疗栓塞(TACE)与TKI治疗GIST肝转移(LM)的新组合,为患者提供更多的治疗选择和更好的预后。
    该病例报告描述了6次TACE治疗在对多种TKIs耐药的小肠间质瘤的多种LM的12年治疗中的应用。病人,一个58岁的男性,在2012年2月发现原发性小肠间质瘤并在出现腹痛症状后切除后,对LM进行了多次手术切除和药物治疗.尽管存在耐药性和经济考虑的挑战,6次TACE治疗有效控制了肿瘤,为患者赢得宝贵的治疗时间。自2023年7月开始每天一次150毫克利普替尼以来,肿瘤一直在缩小,具有令人满意的药物耐受性。
    对于患有LM的GIST患者,TACE联合多种TKI药物可有效控制肝内肿瘤进展,延长患者生存期。在六次TACE会议期间,患者出现肝肿瘤破裂和大出血。然而,通过栓塞完全止血,病变缩小了.我们的发现为GIST中LM的治疗提供了新的视角和治疗策略。
    UNASSIGNED: Gastrointestinal stromal tumor (GIST) is the most common mesenchymal tumor of the digestive tract, with surgery and tyrosine kinase inhibitor (TKI) therapy being its main treatment options. However, long-term use of TKIs may lead to drug resistance, which poses a challenge to the long-term survival of patients. We explore a new combination of transcatheter arterial chemoembolization (TACE) with TKI for liver metastasis (LM) of GIST to provide patients with more treatment options and better prognosis.
    UNASSIGNED: This case report describes the application of 6 TACE sessions in the 12-year treatment of multiple LM from small intestinal stromal tumors that were resistant to multiple TKIs. The patient, a 58-year-old male, underwent multiple surgical resections and drug therapies for the LM after a primary small bowel stromal tumor had been identified and resected following an onset symptom of abdominal pain in February 2012. Despite the challenges of drug resistance and economic considerations, 6 TACE sessions effectively controlled the tumor, winning valuable treatment time for the patient. Since the initiation of ripretinib 150 mg once daily in July 2023, the tumor has continued to shrink, with satisfactory drug tolerance.
    UNASSIGNED: For GIST patients with LM, TACE combined with various TKI drugs could effectively control intrahepatic tumor progression and prolong patient survival. During six TACE sessions, the patient experienced liver tumor rupture and massive bleeding. However, the bleeding was completely stopped by embolization, and the lesion shrank. Our findings provide a new perspective and treatment strategy for the treatment of LM from GIST.
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  • 文章类型: Case Reports
    胃肠道间质瘤(GIST)是胃肠道(GI)最常见的间质瘤,通常起源于Cajal的间质细胞。临床表现根据其大小和形状而变化,但很少表现为可触及的腹部肿块。胰腺假性囊肿是慢性胰腺炎的常见并发症,其特征是由纤维和肉芽组织的非上皮化壁包围的液体聚集。患者可能会出现非特异性症状,如腹痛,恶心,和呕吐,他们通常有急性胰腺炎病史。小假性囊肿常自发消退,但较大的往往会出现症状,并可能导致并发症。在同一患者中很少发现胃的GIST和胰腺的假性囊肿。我们介绍了一名72岁男性的巨大GIST和胰腺假性囊肿的独特病例,该男性正在经历腹痛和腹胀。影像学显示一个源自胃后壁的巨大病变,类似于假性囊肿,与胰腺体相邻的明显囊性病变。在手术探查期间,发现了两种病理的复杂相互作用,需要全面的切除方法。成功的结果突出了在这种罕见情况下仔细评估和个性化管理的重要性。
    Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasms of the gastrointestinal (GI) tract, typically originating from the interstitial cells of Cajal. The clinical presentations are variable according to their size and shape but rarely present as a palpable abdominal mass. Pancreatic pseudocysts are common complications of chronic pancreatitis characterized by fluid collections surrounded by a non-epithelialized wall of fibrous and granulation tissue. Patients may present with non-specific symptoms like abdominal pain, nausea, and vomiting and they generally have a history of acute pancreatitis. Small pseudocysts often resolve spontaneously, but larger ones often become symptomatic and may lead to complications. It is rare to find both a GIST of the stomach and a pseudocyst of the pancreas in the same patient. We present a unique case of a giant GIST and a pancreatic pseudocyst in a 72-year-old male who was experiencing abdominal pain and distension. Imaging revealed a massive lesion originating from the posterior gastric wall, which resembled a pseudocyst, along with a distinct cystic lesion adjacent to the pancreatic body. During surgical exploration, a complex interplay of both pathologies was discovered, requiring a comprehensive resection approach. The successful outcome highlights the importance of careful evaluation and personalized management in such rare cases.
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  • 文章类型: Case Reports
    胃神经鞘瘤是一种极为罕见的肿瘤,起源于胃肠肠神经系统的肌间神经丛。这些神经鞘瘤最常见的是良性的,据报道发生在平均年龄为58岁的女性患者中。它们通常是偶然发现的,但偶尔会出现腹部不适,阻塞性症状,或者消化道出血.经常,最初的临床考虑是胃肠道间质瘤,这是更常见的。通过显微成像和免疫组织化学染色做出明确的诊断。完整的手术切除,通常用腹腔镜检查,是最明确且通常是治愈性的治疗方法,不需要进一步的后续行动。在这里,我们介绍了第一例也是唯一一例80岁以下的胃神经鞘瘤病例,并讨论了当前诊断和治疗方案的最新情况。
    Gastric schwannomas are an exceedingly rare tumor arising from the myenteric plexus of the gastrointestinal enteric nervous system. These schwannomas are most commonly benign and reported to occur in female patients with a mean age of 58 at presentation. They are most often discovered incidentally, but can occasionally present with abdominal discomfort, obstructive symptoms, or GI bleeding. Frequently, the initial clinical consideration is for a gastrointestinal stromal tumor, which is much more common. A definitive diagnosis is made with microscopic imaging and immunohistochemical staining. Complete surgical resection, typically performed laparoscopically, is the most definitive and usually curative treatment, requiring no further follow-up. Herein, we present the first and only case of gastric schwannoma in an octogenarian and discuss an update on current diagnostic and therapeutic options.
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  • 文章类型: Case Reports
    胃肠道间质瘤(GIST)是一种罕见的发生在肠道的间充质肿瘤,最常见的是胃或小肠。最常见的驱动突变是KIT和PDGFRA,可以用伊马替尼或阿瓦替尼治疗(对于PDGFRAD842V突变型GIST),分别。BRAFV600E突变GIST是罕见的,这些对伊马替尼没有反应。多项临床试验已显示dabrafenib在BRAF突变型黑色素瘤中的抗肿瘤作用,并且一些病例报告已证明用BRAF激酶抑制剂治疗BRAFV600E突变型GIST。
    我们介绍了一例67岁女性初次切除后诊断为高危GIST的病例。她最初用佐剂伊马替尼治疗,7个月后停药,因为她的肿瘤的分子分析显示不存在KIT和PDGFRA突变以及BRAFV600E突变。当她的疾病进展时,她开始服用舒尼替尼,随后服用瑞戈非尼.由于严重的掌足红感觉障碍和临床进展,两种药物均被停用。随后,基于BRAFV600E突变的存在,她开始接受dabrafenib治疗;这种治疗导致部分反应。在病情进展和治疗中加入曲美替尼之前,她的疾病在该药物下保持稳定19个月。她的疾病继续进展,在用达布拉非尼和曲美替尼重新挑战之前,她以混合反应改用依维莫司。她的影像学显示,在5个月后进展并过渡到临终关怀之前,对再次挑战的反应是混合的。
    我们描述了一种罕见的具有BRAFV600E突变的GIST分子亚型。不出所料,她的疾病对标准GIST治疗有抗药性,然而,使用dabrafenib治疗后,肿瘤明显消退。该病例显示了分子检测在GIST中的重要性,并增加了目前关于BRAF突变GIST治疗的文献。
    UNASSIGNED: Gastrointestinal stromal tumor (GIST) is a rare mesenchymal tumor arising in the gut, most commonly stomach or small bowel. The most common driver mutations are KIT and PDGFRA which can be treated with imatinib or avapritinib (for PDGFRA D842V-mutant GIST), respectively. BRAF V600E mutant GISTs are rare and these do not respond to imatinib. Multiple clinical trials have shown antitumor effects with dabrafenib in BRAF-mutant melanoma and a few case reports have demonstrated treatment of BRAF V600E mutant GIST with a BRAF kinase inhibitor.
    UNASSIGNED: We present a case of a 67-year-old woman diagnosed with high-risk GIST following initial resection. She was initially treated with adjuvant imatinib which was discontinued after 7 months because molecular analysis of her tumor showed the absence of KIT and PDGFRA mutations and a BRAF V600E mutation. When her disease progressed, she was started on sunitinib and subsequently regorafenib. Both agents were discontinued due to severe palmar-plantar erythrodysesthesia and clinical progression. She was subsequently started on dabrafenib based on the presence of a BRAF V600E mutation; this therapy led to a partial response. Her disease remained stable on this medication for 19 months before progression and addition of trametinib to her treatment. Her disease continued to progress and she was switched to everolimus with mixed response before re-challenging with dabrafenib and trametinib. Her imaging showed a mixed response to the re-challenge before progressing after 5 months and transitioning to hospice.
    UNASSIGNED: We describe an uncommon molecular subtype of GIST with a BRAF V600E mutation. As expected, her disease was resistant to standard GIST therapy, however there was notable tumor regression following treatment with dabrafenib. This case shows the importance of molecular testing in GIST and adds to the current body of literature on the treatment of BRAF-mutant GIST.
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  • 文章类型: Case Reports
    该病例报告介绍了一名42岁女性的临床细节,该女性以前没有医学问题,该女性表现为以黑素性粪便为特征的上消化道出血(UGIB)。初步检查显示轻度贫血,随后的内窥镜检查发现4厘米的粘膜下胃肿块显示近期出血指标。随后的手术病理证实2级高级别胃肠道间质瘤(GIST),复发风险增加。这种情况的意义在于强调在UGIB的鉴别诊断中考虑GIST的必要性。特别是在没有可识别的危险因素的中年人中,例如近期或慢性非甾体抗炎药(NSAID)的使用,消化性溃疡疾病,或报警症状。早期发现和及时手术干预在提高患者预后方面至关重要。虽然完全切除是治疗的基石,建议高危患者使用伊马替尼辅助治疗,以降低复发风险.
    This case report presents the clinical details of a 42-year-old female without previous medical issues who presented with upper gastrointestinal bleeding (UGIB) characterized by melanotic stools. Initial examination revealed mild anemia and subsequent endoscopy identified a 4 cm submucosal gastric mass displaying recent bleeding indicators. Subsequent surgical pathology confirmed a high-grade gastrointestinal stromal tumor (GIST) of grade 2 with a heightened risk of recurrence. The significance of this case lies in underscoring the necessity of considering GIST in the differential diagnosis of UGIB, particularly among middle-aged individuals with no identifiable risk factors such as recent or chronic non-steroidal anti-inflammatory drug (NSAID) use, peptic ulcer disease, or alarm symptoms. Early detection and prompt surgical intervention assume paramount importance in enhancing patient outcomes. While complete resection stands as the cornerstone of treatment, adjuvant imatinib therapy is recommended for high-risk patients to mitigate the risk of recurrence.
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  • 文章类型: Case Reports
    胃肠道间质瘤(GIST)是胃肠道中最常见的间质瘤,最常见于胃部。晚期GIST患者的标准治疗包括手术切除和伊马替尼治疗。已有病例记录了伊马替尼治疗前原发性GIST和伊马替尼治疗后复发性GIST患者的组织形态学改变。然而,在伊马替尼治疗后,没有文献记载的一例患者原发部位GIST复发伴软骨样分化.在这篇文章中,我们报告了一名58岁患者的偶然发现,该患者在胃内复发性GIST手术切除前接受了两种伊马替尼治疗.我们还通过小型文献综述探讨了已报道的具有软骨样分化的GIST的各种病例,以比较组织形态学。免疫表型,以及这些病例的患者人口统计。这篇文章对于报道伊马替尼治疗后GIST的罕见发现具有重要意义,并强调了伊马替尼治疗后GIST可能获得的各种表现,这些表现排除了另一个恶性过程。如软骨肉瘤。
    Gastrointestinal stromal tumor (GIST) is the most common mesenchymal tumor in the gastrointestinal tract and is most commonly seen in the stomach. The standard treatment for patients with advanced GISTs include both surgical resection and imatinib therapy. There have been cases that document the alterations of patients\' GIST histomorphology both with primary GIST prior to imatinib therapy and with recurrent GIST after imatinib therapy. However, there has been no documented case of a patient who has recurrent GIST with chondroid differentiation at the primary site after imatinib therapy. In this article, we report an incidental finding of a 58-year-old patient who had two treatments of imatinib therapy prior to surgical resection of her recurrent GIST in her stomach. We also explore through a mini-literature review the various cases of GIST with chondroid differentiation that have been reported to compare the histomorphology, immunophenotype, and patient demographic of these cases. This article is significant for reporting a rare finding of GIST after imatinib therapy and highlights the various presentations that GIST could acquire after imatinib therapy that exclude another malignant process, such as chondrosarcoma.
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  • 文章类型: Case Reports
    胃肠道间质瘤(GIST)是一种罕见的胃肠道肿瘤。本报告详细介绍了一例涉及一名44岁女性的医疗案例,该女性接受了双侧嗜铬细胞瘤切除术,GIST胃切除术,腹腔镜肾上腺切除术和肠切除术。尽管最初对口服伊马替尼反应积极,由于经济限制,治疗被推迟。这种延迟导致了以腹部GIST转移到腹壁为标志的关键事件,随后的破裂导致腹膜积血,紧急手术。经过充分的术后恢复,她在调整药物治疗前成功出院.
    Gastrointestinal stromal tumors (GISTs) represent a rare form of gastrointestinal neoplasm. This report details a medical case involving a 44-year-old woman who underwent bilateral pheochromocytoma resection, GIST gastrectomy, and laparoscopic adrenalectomy with intestinal resection. Despite an initially positive response to oral imatinib, treatment was delayed due to economic constraints. This delay resulted in a critical event marked by abdominal GIST metastasis to the abdominal wall, subsequent rupture leading to hemoperitoneum, and emergency surgery. Following an adequate postsurgical recovery, she was successfully discharged prior to medication adjustments.
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