Perivascular epithelioid cell tumor of the liver coexisting with a gastrointestinal stromal tumor

Approximately 10% of patients with gastrointestinal stromal tumors (GIST) develop other neoplasms, either synchronously or metachronously. In this report we describe coexistence of a gastrointestinal stromal tumor and a hepatic perivascular epithelioid cell tumor (PEComa) in a 51-year-old woman with no evidence of tuberous sclerosis. A subcapsular hepatic nodule (0.8 cm in diameter) was found during surgery for symptomatic gastric neoplasm (15 cm in diameter) arising from the lesser curvature. Both tumors revealed histomorphological and immunohistochemical features confirming a diagnosis of a small incidental hepatic PEComa and a high risky extramural gastric GIST, respectively. The patient remained disease-free 25 mo after surgery with no evidence of tumor recurrence or new neoplasms. To our knowledge, this is the first report of PEComa in a patient with GIST. Hepatic lesions detected synchronously or metachronously in patients with GISTs may represent histogenetically distinct lesions and should be sampled to confirm or exclude metastatic GISTs.

Gastrointestinal stromal tumors and second primary malignancies before and after the introduction of imatinib mesylate

Gastrointestinal stromal tumor （GIST） is the most common mesenchymal malignancy of the gastrointestinal tract.GISTs may coexist with different types of cancer,either synchronous or metachronous （1）.Most GISTs develop in a sporadic fashion,but familial occurrence,such as neurofibromatosis and Carney-triad,has also been reported （2）.The overall frequency of second tumors in different series varied from 4.5% to 33%.The most frequent types of GIST-associated cancers were gastrointestinal carcinomas （47%）,lymphoma/leukemia （7%）,carcinomas of prostate （9%）,breast （7%）,kidney （6%）,lung （5%）,female genital tract （5%）,carcinoid tumors （3%）,soft tissue and bone sarcomas （3%）,malignant melanoma （2%） and seminoma （1%） （1,3-5）.

Giant hepatic extra-gastrointestinal stromal tumor treated with cytoreductive surgery and adjuvant systemic therapy:A case report and review of literature

BACKGROUND Primary extra-gastrointestinal stromal tumors(E-GIST)of the liver are rare.The clinical presentation may range from asymptomatic to bleeding or manifestations of mass effect.Oncologic surgery followed by adjuvant therapy with imatinib is the standard of care.However,under specific circumstances,a cytoreductive approach may represent a therapeutic option.We describe herein the case of an 84-year-old woman who presented with a tender,protruding epigastric mass.Abdominal computed tomography scan revealed a large,heterogeneous mass located across segments III,IV,V,and VIII of the liver.The initial approach was transarterial embolization of the tumor,which elicited no appreciable response.Considering the large size and central location of the tumor and the advanced age of the patient,non-anatomic complete resection was indicated.Due to substantial intraoperative bleeding and hemodynamic instability,only a near-complete resection could be achieved.Histopathology and immunohistochemical staining confirmed the diagnosis of primary E-GIST of the liver.Considering the risk/benefit ratio for therapeutic options,debulking surgery may represent a strategy to control pain and prolong survival.CASE SUMMARY Here,we present a case report of a patient diagnosed with E-GIST primary of the liver,which was indicated a cytoreductive surgery and adjuvant therapy with imatinib.CONCLUSION E-GIST primary of the liver is a rare conditional,the treatment is with systemic therapy and total resection surgery.However,a cytoreductive surgery will be necessary when a complete resection is no possible.

Transcatheter arterial chemoembolization for gastrointestinal stromal tumors with liver metastases

AIM:To evaluate the efficacy and safety of transcatheter arterial chemoembolization(TACE) for gastrointestinal stromal tumor(GIST) with liver metastases after the failure of tyrosine kinase inhibitors(TKIs).METHODS:Patients with histologically confirmed CD117-positive GIST with liver metastases who were resistant and/or intolerant to prior imatinib and/or sunitinib and who received TACE for at least one treatment cycle or only best supportive care and TKI reintroduction were eligible for the study.The patients were divided into two groups:those in TACE group received TACE treatment containing 5-20 mL iodized oil and 40-80 mg doxorubicin hydrochloride and TKI reintroduction or best supportive care,those in control group only received TKI reintroduction or best supportive care.The primary end-point was overall survival and the secondary end-points were,progression-free survival(PFS),response rates,and safety.RESULTS:Sixty patients admitted between June 2008 and October 2011 were eligible for this study,including 22 in TACE group and 38 in control group.In the TACE group,12(54.5%) achieved liver partial response,5(22.7%) had stable disease,and 5(22.7%) had liver progressive disease.Disease control rate of liver metastases was 77.3% in the TACE group and 39.5% in the control group.The median liver PFS in TACE group was 47.1 wk(95% CI:23.9-70.3).The median PFS in TACE group was longer than in control group(30.0 wk,95% CI:20.1-39.9 vs 12.9 wk,95% CI:11.9-13.9)(P = 0.0001).The median overall survival in TACE group was also longer than in control group(68.5 wk,95% CI:57.4-79.6 vs 25.7 wk,95% CI:23.2-28.2)(P = 0.0001).TACE treatment significantly reduced the risk of death(hazard ratio:0.109).Patients without extrahepatic metastases treated with TACE had significantly better prognosis.Most of the adverse events were of grade 1 or 2 and tolerable.CONCLUSION:TACE is effective and well tolerated in GIST patients with liver metastases after TKI failure,and it may be an optional treatment for this disease.

Pathologic complete response confirmed by surgical resection for liver metastases of gastrointestinal stromal tumor after treatment with imatinib mesylate

A 39-year-old male underwent distal gastrectomy for a high grade gastrointestinal stromal tumor(GIST) . Computed tomography(CT) and magnetic resonance imaging(MRI) 107 mo after the operation,revealed a cystic mass(14 cm in diameter) and a solid mass(9 cm in diameter) in the right and left lobes of the liver,respectively. A biopsy specimen of the solid mass showed a liver metastasis of GIST. The patient received imatinib mesylate(IM) treatment,400 mg/day orally. Following the IM treatment for a period of 35 mo,the patient underwent partial hepatectomy(S4 + S5) . The effect of IM on the metastatic lesions was interpreted as pathologic complete response(CR) . Pathologically verified cases showing therapeutic efficacy of IM have been rarely reported.

Prevalence, diagnosis, and treatment of primary hepatic gastrointestinal stromal tumors

Gastrointestinal stromal tumors(GIST), which is the most common mesenchymal tumor of the digestive tract, account for 1%-3% of gastrointestinal tumors. Primary stromal tumors outside the gastrointestinal tract are collectively referred to as extra GISTs, and stromal tumors in different regions often have different prognoses. A primary hepatic GIST is a rare tumor with an unknown origin, which may be related to interstitial Cajal-like cells. Although primary hepatic GIST has certain characteristics on imaging, it lacks specific symptoms and signs;thus, the final diagnosis depends on pathological and genetic evidence. This review summarizes all cases of primary hepatic GIST described in the literature and comprehensively analyzes the detailed clinical data of all patients. In terms of treatment, local resection alone or with adjuvant therapy was the prioritized choice to obtain better disease-free survival and longer survival time. For advanced unresectable cases, imatinib mesylate was applied as the first-line chemotherapy agent. Moreover, transcatheter arterial chemoembolization,/by-nc/4.0/Manuscript source: Unsolicited manuscript radiofrequency ablation, and microwave ablation were shown to improve overall survival for selected patients. Liver transplantation was a final treatment option after resistance to chemotherapy developed.

High-frame-rate contrast-enhanced ultrasound findings of liver metastasis of duodenal gastrointestinal stromal tumor:A case report and literature review

BACKGROUND Liver metastasis of duodenal gastrointestinal stromal tumor(GIST)is rare.Most reports mainly focus on its treatment and approaches to surgical resection,while details on its contrast-enhanced ultrasound(CEUS)findings are lacking.The diagnosis and imaging modalities for this condition remain challenging.CASE SUMMARY A 53-year-old Chinese man presented with mild signs and symptoms of the digestive tract.He underwent routine examinations after GIST surgery.Magnetic resonance imaging showed a 2.3 cm hepatic space-occupying lesion.All the laboratory test results were within normal limits.For further diagnostic confirmation,we conducted high frame rate CEUS(H-CEUS)and found a malignant perfusion pattern.Heterogeneous concentric hyper-enhancement,earlier wash-in than the liver parenchyma,and two irregular vessel columns could be observed at the periphery of the lesion during the arterial phase.Ultrasound-guided puncture biopsy was used to confirm the diagnosis of the lesion as liver metastasis of duodenal GIST.Imatinib was prescribed after biopsy,and the patient’s clinical course was monitored.CONCLUSION H-CEUS is useful for detecting microcirculation differences,wash-in patterns,and vascular morphogenesis and diagnosing liver metastasis of duodenal GIST.

Repeat resection of liver metastases from gastrointestinal stromal tumor

A 44-year-old man, who was diagnosed with a gastrointestinal stromal tumor incidentally during emergency laparotomy for treatment of acute obstruction of small intestine at another hospital in 1999, was referred to our hospital due to a solitary metastasis in the liver in November 2002. A right segmentectomy (Segment 6, Couinaud's system) of liver was carried out. Half and one years later, a recurrent metastasis with involvement of the inferior vena cava was detected in posterior region of the liver. He underwent the third surgery in May 2004. Three another small metastases in greater omentum were found and removed. The tumor in posterior sector of the liver was en bloc resected with portion of involved inferior vena cava and diaphragm. The resected vena cava is repaired primarily through a lateral venorraphy.However, local recurrence was detected one year later, he recieved the fourth surgery in July 2005. He is now in Gleevec therapy. At present, he is in good health and free of recurrence.

Hepatic gastrointestinal stromal tumor: Systematic review of an exceptional location

BACKGROUND A minor subset of primary gastrointestinal stromal tumors(GIST)can also arise outside the gastrointestinal tract,which is known as an extra-GIST(E-GIST).Primary GIST of the liver is an exceptional location.AIM To characterize epidemiological,clinical and pathological features and options of treatments.METHODS We performed a systematic review to search for articles on primary hepatic GIST.RESULTS This review shows that right hepatic lobe was the most frequent location.Regarding pathological and immunohistochemical features,mitotic count was≥5/50 High Power Fields in more than 50%;and CD117 was negative in only 1 patient.More than 70%of patients had a lesion with high risk of malignancy.CONCLUSION The diagnosis of E-GIST must be considered in a liver mass.Rendering an accurate diagnosis is a challenge,as well as the confirmation of their primary or metastatic nature.

Hepatopancreatoduodenectomy for metastatic duodenal gastrointestinal stromal tumor

BACKGROUND: Duodenal gastrointestinal stromal tumors, which are rare, comprise 3%-5% of all gastrointestinal stromai tumors. We present a case of a metastatic duodenal gastrointestinal stromal tumor that was successfully treated by simultaneous tight hemihepatectomy and pancreaticoduodenectomy. METHODS: A 50-year-old woman was admitted to our department for the treatment of a possible metastatic duodenal gastrointestinal stromal tumor (GIST). At laparotomy a large duodenal tumor was found displacing the head of the pancreas. A 3 cm in diameter lesion in the posterior aspect of segment Ⅷ of the liver was also noted. Simultaneous right hepatectomy and pancreaticoduodenectomy were performed. RESULTS: Histological examination revealed a high grade metastatic duodenal GIST strongly positive for c-kit, CD34, and vimentin. The patient had no additional therapy. A follow-up of 21 months showed that the patient is very well and there is no evidence of recurrent diseases. CONCLUSIONS: Malignant stromai tumors of the duodenum are rarely encountered. They are usually slow growing, and may be amenable to curative surgery, even after occurrence of metastases. Resection of localized liver metastasis is still advocated when feasible, since imatinib does not provide a complete or long-term response. Combined surgical resection is an efficacious treatment for patients with metastatic duodenal gastrointestinal stromal tumor.

Application of G-quadruplex targets in gastrointestinal cancers:Advancements,challenges and prospects

Genomic instability and inflammation are considered to be two enabling characteristics that support cancer development and progression.G-quadruplex structure is a key element that contributes to genomic instability and inflammation.G-quadruplexes were once regarded as simply an obstacle that can block the transcription of oncogenes.A ligand targeting G-quadruplexes was found to have anticancer activity,making G-quadruplexes potential anticancer targets.However,further investigation has revealed that G-quadruplexes are widely distributed throughout the human genome and have many functions,such as regulating DNA replication,DNA repair,transcription,translation,epigenetics,and inflammatory response.G-quadruplexes play double regulatory roles in transcription and translation.In this review,we focus on G-quadruplexes as novel targets for the treatment of gastrointestinal cancers.We summarize the application basis of G-quadruplexes in gastrointestinal cancers,including their distribution sites,structural characteristics,and physiological functions.We describe the current status of applications for the treatment of esophageal cancer,pancreatic cancer,hepatocellular carcinoma,gastric cancer,colorectal cancer,and gastrointestinal stromal tumors,as well as the associated challenges.Finally,we review the prospective clinical applications of G-quadruplex targets,providing references for targeted treatment strategies in gastrointestinal cancers.

Primary Hepatic Extra-gastrointestinal Stromal Tumors:Molecular Pathogenesis,Immunohistopathology,and Treatment

Gastrointestinal stromal tumors are the most common mesenchymal tumors of the gastrointestinal tract.They originate from the interstitial cells of Cajal and are usually found in extrahepatic gastrointestinal sites.However,a small subset are derived from the liver and are known as primary hepatic gastrointestinal stromal tumors(PHGIST).They have a poor prognosis and are historically difficult to diagnose.Our objective was to review and update the latest evidence-based knowledge concerning PHGIST,with a focus on epidemiology,etiology,pathophysiology,clinical presentation,histopathology,and treatment.These tumors are usually found incidentally,occur sporadically,and are associated with mutations of KIT and PDGFRA genes.PHGIST is a diagnosis of exclusion,as it has the same molecular,immunochemistry and histological appearance as gastrointestinal stromal tumors(GIST).Thus,imaging,such as positron emission tomography-computed tomography(PET-CT)must be used to rule out metastatic GIST before a diagnosis can be made.However,with mutation analysis and pharmacological advances,tyrosine kinase inhibitors are typically pursued with or without surgical intervention.Other potential treatments include transcatheter arterial chemoembolization and tumor ablation.However,these are typically considered palliative options.As there are only a limited number of publications regarding PHGIST,data concerning morbidity and mortality are not yet available.Immunohistopathology can help develop screening guidelines and evaluating resistance to treatment.

Role of surgical resection for non-colorectal non-neuroendocrine liver metastases

It is widely accepted that the indications for hepatectomy in colorectal cancer liver metastases and liver metastases of neuro-endocrine tumors result in relatively better prognoses, whereas, the indications and prognoses of hepatectomy for non-colorectal non-neuroendocrine liver metastases(NCNNLM) remain controversial owing to the limited number of cases and the heterogeneity of the primary diseases. There have been many publications on NCNNLM; however, its background heterogeneity makes it difficult to reach a specific conclusion. This heterogeneous disease group should be discussed in the order from its general to specific aspect. The present review paper describes the general prognosis and risk factors associated with NCNNLM while specifically focusing on the liver metastases of each primary disease. A multidisciplinary approach that takes into consideration appropriate timing for hepatectomy combined with chemotherapy may prolong survival and/or contribute to the improvement of the quality of life while giving respite from systemic chemotherapy.

直肠肛管区特殊类型肿瘤的诊治进展

直肠肛管区存在诸如直肠神经内分泌肿瘤、胃肠间质瘤、肛管鳞癌、直肠肛管黑色素瘤、原发性直肠淋巴瘤等特殊类型肿瘤,其临床特征与直肠癌存在差异,且发病率较低,导致临床医师对其认识不足。本文对直肠肛管区特殊类型肿瘤的临床诊疗进展进行综述。

45例肝胃间隙占位性病变分析

目的探讨肝胃间隙占位性病变的临床特点。方法对2016年7月至2023年2月于武汉大学人民医院及华中科技大学同济医学院附属同济医院进行诊治的45例肝胃间隙占位性病变患者的临床资料进行回顾性分析。结果肝胃间隙恶性肿瘤占57.78%,良性肿瘤占42.22%。其中胃肠道间质瘤占肝胃间隙占位性病变的31.11%,各种转移癌占33.33%。胃肠道间质瘤的大小以及特殊的EUS特征与其危险度有关(P<0.05)。EUS下病变回声是否均匀以及病变分界是否清晰在占位性病变的良恶性中差异无统计学意义(P>0.05),而病变回声(如低回声、高回声等)在良恶性占位性病变中差异有统计学意义(P<0.05)。结论肝胃间隙恶性占位性病变种类较多,恶性病变多于良性病变,可行EUS-FNA明确病理性质,从而对临床治疗提供指导。

肝脏原发性胃肠道间质瘤1例报道并文献复习

肝脏原发性胃肠道间质瘤(gastrointestinal stromal tumor,GIST)是GIST中极为罕见的一种形式,文献仅有零星报道。我们报道1例肝脏的胃肠道外间质瘤(extra-gastrointestinal stromal tumor,EGIST),并进行文献复习。

载药微球经导管肝动脉化疗栓塞治疗靶向治疗失败的胃肠道间质瘤肝转移疗效分析

目的观察CalliSpheres载药微球经导管肝动脉化疗栓塞术(DEB-TACE)治疗靶向治疗失败的不可切除胃肠道间质瘤肝转移的临床疗效和不良反应。方法回顾性分析2019年3月至2022年3月临沂市肿瘤医院收治的接受二线以上靶向治疗失败的不可切除胃肠道间质瘤肝转移患者27例,所有患者均接受DEB-TACE治疗,应用改良的实体瘤疗效评价标准(mRE-CIST)评价DEB-TACE术后肿瘤反应情况,分析总生存时间(OS)、无进展生存时间(PFS)以及治疗过程中的不良反应。结果DEB-TACE术后5~7 d复查CT/MRI即可见肿瘤明显坏死,依据mRECIST,首次DEB-TACE术后2个月肿瘤客观缓解率为96.29%,疾病控制率为100.00%,中位PFS为11.0个月,中位OS为16.0个月;术后主要不良反应为发热、疼痛、恶心、呕吐等,并发症大多较轻,对症治疗后缓解,未出现Calli Spheres载药微球相关肝脓肿、异位栓塞等严重并发症。结论DEB-TACE治疗靶向治疗失败的不可切除胃肠道间质瘤肝转移的疗效较好,不良反应少,是一种安全可行的治疗方式,值得临床推广应用。

Rare cystic liver lesions: A diagnostic and managing challenge

Cystic formations within the liver are a frequent finding among populations.Besides the common cystic lesions,like simple liver cysts,rare cystic liver lesions like cystadenocarcinoma should also be considered in the differential diagnosis.Thorough knowledge of each entity’s nature and course are key elements to successful treatment.Detailed search in PubMed,Cochrane Database,and international published literature regarding rare cystic liver lesions was carried out.In our research are included not only primary rare lesions like cystadenoma,hydatid cyst,and polycystic liver disease,but also secondary ones like metastasis from gastrointestinal stromal tumors lesions.Up-to date knowledge regarding diagnosis and management of rare cystic liver lesions is provided.A diagnostic and therapeutic algorithm is also proposed.The need for a multidisciplinary approach by a team including radiologists and surgeons familiar with liver cystic entities,diagnostic tools,and treatment modalities is stressed.Patients with cystic liver lesions must be carefully evaluated by a multidisciplinary team,in order to receive the most appropriate treatment,since many cystic liver lesions have a malignant potential and evolution.

原发性胃肠道间质瘤临床病理因素与预后的相关性分析

目的分析原发性胃肠道间质瘤(GISTs)相关临床病理因素与预后的相关性。方法分析166例原发性GISTs患者的临床病理资料。采用Kaplan-Meier法对患者无疾病进展生存期(PFS)进行比较,对影响患者预后的相关临床病理因素分别行单因素及多因素分析。结果单因素分析结果显示,患者预后与肿瘤原发部位、直径、核分裂象、有无侵犯周围组织、有无坏死、NIH危险度、Ki-67指数有关;多因素分析结果显示,肿瘤直径、有无侵犯周围组织、有无坏死、NIH危险度、Ki-67指数是影响患者预后的独立因素。结论 GISTs预后判断可以结合经典NIH危险度分级、Ki-67指数及肿瘤手术时是否已侵犯周围组织。

肝脏转移性间质瘤的MSCT诊断分析

目的探讨MSCT对肝脏转移性间质瘤的诊断价值。方法回顾性分析18例经临床及病理证实的肝脏转移性间质瘤的MSCT资料。结果 18例中,原发灶位于食管下段1例,胃8例,小肠7例,肠系膜1例,腹膜后1例;其中多发16例,单发2例;15例为囊实性,壁厚薄不均,3例为实性;肿瘤呈圆形或类圆形,最大径8～150mm;平扫17例呈不均匀较低密度,边界相对较清晰,1例出现不均匀钙化;增强强化不均匀,9例明显强化,7例中等强化,2例轻度强化;15例囊实性肿瘤中央可见未强化坏死区。结论肝脏转移性间质瘤常多发,大小不等,边界相对清晰,少有钙化;多数肿瘤内部可见低密度坏死囊变区,增强以明显强化或中等强化多见,MSCT对其诊断具有重要价值。