Molecular Characterization of Gastrointestinal Stromal Tumors (Gist) and Contribution of Immunohistochemistry in Congolese from Kinshasa

Introduction: The differentiation of digestive tumors very often requires the use of techniques currently not widely in use in the Democratic Republic of Congo (DRC), such as immunohistochemistry. This is perfectly verified for GISTs whose precise, or at least highly certain, diagnosis can only be made using immunohistochemical markers. This underuse of these techniques due to lack of equipment and human skills explains the limited epidemiological data available to date, thus leading to untargeted and too often late treatment of patients. Research question: What contribution can immunohistochemical markers make to the diagnosis of digestive tract tumours? Objective: Discuss the contribution of immunohistochemical markers in the diagnosis of GIST and provide basic data on the epidemiology of these nosological entities in Kinshasa. Methodology: This was a retrospective study carried out at the LEBOMA private anatomy and pathological cytology centre. The main inclusion criterion was any digestive tract block or slide whose diagnosis of GIST had been requalified after review by at least 2 pathologists. An immuhistochemical study was performed using an automated technique (with a Ventana XT machine) using a panel of antibodies: CD-117 and DOG-1 which are listed in the literature as strongly correlated with the occurrence of GIST, all slides were made at Hj Hospital using an OLYMPUS BX41 co-observation microscope. Results: Of 601 cases of digestive tumors recorded during the concerned period, 32 (5.32%) concerned GIST. This prevalence was confirmed by our immunohistochemical results where the expression of CD117 and that of DOG-1 were positive in 90.6% and 100% of cases which prevalence is high compared with the worldwide prevalence according to the literature, respectively. The distribution of the patients concerned was made with a sex ratio of 1.6 women/men with a median age of 53 years. Most cases (81%) had a gastric location and were fusiform GISTs. Conclusion: Gastrointestinal stromal tumours, although rare and underestimated, account for 5.32% of cases in the DRC. This is a considerable and high prevalence compared with the world average. To the best of our knowledge, no studies have been carried out on these aspects in the DRC, which explains the importance of this study. The results of this research demonstrated the contribution of these 2 markers as specific and effective biomarkers for optimal and differential diagnosis in GIST. In view of the above, it is therefore more than necessary to popularise the use of these biomarkers in order to contribute effectively to improving the overall management of gastrointestinal tumours by improving their identification.

A gist of gastrointestinal stromal tumors: A review

Gastrointestinal stromal tumors (GISTs) have been recognized as a biologically distinctive tumor type, different from smooth muscle and neural tumors of the gastrointestinal tract (GIT). They constitute the majority of gastrointestinal mesenchymal tumors of the GIT and are known to be refractory to conventional chemotherapy or radiation. They are defined and diagnosed by the expression of a proto-oncogene protein detected by immunohistochemistry which serves as a crucial diagnostic and therapeutic target. The identification of these mutations has resulted in a better understanding of their oncogenic mechanisms. The remarkable antitumor effects of the molecular inhibitor imatinib have necessitated accurate diagnosis of GIST and their distinction from other gastrointestinal mes-enchymal tumors. Both traditional and minimally invasive surgery are used to remove these tumors with minimal morbidity and excellent perioperative outcomes. The revolutionary use of specific, molecularlytargeted therapies, such as imatinib mesylate, reduces the frequency of disease recurrence when used as an adjuvant following complete resection. Neoadjuvant treatment with these agents appears to stabilize disease in the majority of patients and may reduce the extent of surgical resection required for subsequent complete tumor removal. The important interplay between the molecular genetics of GIST and responses to targeted therapeutics serves as a model for the study of targeted therapies in other solid tumors. This review summarizes our current knowledge and recent advances regarding the histogenesis, pathology, molecular biology, the basis for the novel targeted cancer therapy and current evidence based management of these unique tumors.

GASTROINTESTINAL STROMAL TUMORS OF THE ANORECTUM——A SPECIAL ENTITY: GISTs OF THE ANORECTUM

Objective： Until recently gastrointestinal stromal tumor （GIST） has been separated from other mesenchymal neoplasms and categorized as a special entity. Morphology of tumor cells and immunohistochemical findings with CD117 are crucial in the pathological diagnosis of GISTs. Newly developed drug imatinib mesylate （formerly called STI571） has been proved effective for GISTs. The distinction of GISTs and other mesenchymal tumors has great clinical significance, especially for lesions located in the anorectum. Methods： The authors searched the database of Peking University, School of Ontology for patients with anorectal neoplasms treated from January 1995 to June 2002. Information of 12 patients with anorectal mesenchymal tumors was collected. The patients were reevaluated and discussed according to current criteria of GISTs with clinical data and immunohistochemical findings. Results： Six patients （including 3 males） were finally diagnosed as anorectal GISTs. The median age of those patients was 59.5 years （27～69）. The symptoms were not specific. Three cases with original diagnosis of leiomyoma or leiomyosarcoma were actually GISTs. A total of six anorectal GISTs was found comprising about 1.06% of patients with anorectal neoplasmas in the same period. Besides CD117, CD34 and vimentin were also expressed in majority of these patients. Five of the six patients underwent surgical resection one of which received neoadjuvant chemotherapy before resection Conclusion： Anorectal GISTs should be considered as a special entity using current diagnostic criteria. Surgical resection remains the primary therapeutic strategy. Neoadjuvant imatinib mesylate may be helpful in sphincter-sparing operations and improvement of the quality of life for these patients.

Transcranial surgery through pterional approach for removal of cranio-orbital tumors by an interdisciplinary team of nurosurgeons and ophthalmologists

AIM: To investigate the specialty of transcranial surgery through pterional approach for removal of cranio-orbital tumors, introduce the ophthalmological experiences of entering the orbit to reduce the incidence rate of associated complications of this operation. METHODS: We performed a retrospective analysis of a series of 37 cases involving patients who underwent transcranial surgery through pterional approach for treatment of cranio-orbital tumors in our department in the past 8 years. Pterion approach craniotomy was performed to all patients. After removing tumors in the skull by the neurosurgeon, ophthalmologist removed tumors in orbit. We took measures below to decrease complications, including grounding optic canal through an abrasive drilling when necessary, hanging various extraocular muscles to be exposed for protection, refrigerating by refrigeration heads to remove tumors, at last sewing up orbit septum after surgery. RESULTS: Tumors were removed completely in 32 cases, and incomplete in 5 cases due to extensive invasion into the cavernous sinus or sphenoid sinus. Of all the cases, benign tumors were demonstrated in 28 cases (75.6%, 28/37) and malignant in 9 (24.3%, 9/37). The most common lesion type was meningioma in 11 cases (29.7%, 11/37). Extraocular muscles (EOM) impairment, occurring in 21 cases (56.7%, 21/37), was the most frequent postoperative complication. The most serious consequence was vision loss occurred in 4 cases (10.8%, 4/37). Other complications, such as 11 cases of transient blepharoptosis 29.7% (11/37), 5 cases of mydriasis in 13.5% (5/7); 2 cases of cerebrospinal rhinorrhea in 5.4% (2/37). CONCLUSION: Cranio-orbital tumors can be removed completely using transcranial approach, and the pterional approach offers excellent exposure. Cooperation of interdisciplinary team of neurosurgeons and ophthalmologists conduces to full use of respective professional advantages. The experience of ophthalmic operation technology can decrease occurrence of ocular complications after surgery.

能谱CT影像组学及CT征象对GIST危险度分级探讨

目的本研究旨在探讨利用能谱CT影像学改变与CT征象联合建立的胃肠道间质瘤(GIST)危险度分级图模型,以评估其对临床精准治疗和GIST治疗的价值。方法我们纳入了本院术后病理确诊为GIST、同时有完整影像信息的135例患者进行研究,并收集73例外院确诊病例进行外部验证。根据2017年中国病理专家组的共识,将患者分为极低危、低危(入低危组)、中危和高危(入高危组)。我们将本院的135例病例作为训练组,外院的73例作为验证组,通过训练和验证独立的危险因素,进行特征筛选,利用能谱CT参数、CT表现预测模型和影像组学预测模型的独立危险因素进行多因素逻辑回归分析,并选取P<0.05的特征进行多因素逻辑回归建模,最终得出分级图。结果能谱CT参数,包括单能CT值、碘浓度、水浓度和有效原子数,计算能谱曲线的归一化碘浓度(NIC)和斜率k。评估其他的影像学变化,例如如肿瘤体积、生长模式、肿瘤坏死/溃疡、肿瘤供血或引流血管增生(EVFDM)、肿瘤边缘及临近组织浸润。在单因素分析中,70keV的结果更接近40keV~140keV单能量的平均值,图像噪声低、信噪比较高,低危组与高危组间在临近组织侵犯差异上有统计学意义(P<0.05)。多因素logistic回归分析显示,肿瘤大小、肿瘤坏死/溃疡、EVFDM、肿瘤轮廓及临近组织浸润(存在vs不存在)与较高的恶性潜力密切相关。将这些独立因素纳入列线图模型后,训练组和验证组的C指数分别为0.872(95%CI:0.753-0.863)和0.807(95%CI:0.697-0.893)。敏感度为0.865,特异性为0.915,诊断准确率为0.837。能谱CT影像组学联合CT特征列线图的AUC为0.927(训练组)和0.905(验证组),显示出了良好的预测。结论由能谱CT不同KeV影像学表现结合CT征象特征组成的胃肠道间质瘤列线图,包括大小、位置、肿瘤坏死/溃疡、EVFDM、肿瘤轮廓及临近组织浸润等,可以准确预测原发性胃肠道间质瘤的恶性潜力,对临床疗效评价和评估患者预后提供有效帮助。

Targeting Hypoxic Tumors with Hybrid Nanobullets for Oxygen-Independent Synergistic Photothermal and Thermodynamic Therapy

Hypoxia is a feature of solid tumors and it hinders the therapeutic efficacy of oxygen-dependent cancer treatment.Herein,we have developed all-organic oxygen-independent hybrid nanobullets ZPA@HA-ACVA-AZ for the“precise strike”of hypoxic tumors through the dual-targeting effects from surface-modified hyaluronic acid(HA)and hypoxia-dependent factor carbonic anhydrase IX(CA IX)-inhibitor acetazolamide(AZ).The core of nanobullets is the special zinc(II)phthalocyanine aggregates(ZPA)which could heat the tumor tissues upon 808-nm laser irradiation for photothermal therapy(PTT),along with the alkyl chain-functionalized thermally decomposable radical initiator ACVA-HDA on the side chain of HA for providing oxygen-independent alkyl radicals for ablating hypoxic cancer cells by thermodynamic therapy(TDT).The results provide important evidence that the combination of reverse hypoxia hallmarks CA IX as targets for inhibition by AZ and synergistic PTT/TDT possess incomparable therapeutic advantages over traditional(reactive oxygen species(ROS)-mediated)cancer treatment for suppressing the growth of both hypoxic tumors and their metastasis.

膀胱癌电切术后尿路感染Lasso-Logistic预测模型的构建

目的 分析膀胱癌电切术后尿路感染(UTI)发生情况,并构建Lasso-Logistic预测模型。方法 选取2022年5月—2023年10月首都医科大学附属北京友谊医院行尿道膀胱肿瘤电切术(TURBT)治疗后的920例膀胱癌患者,统计术后UTI发生率。根据是否发生UTI分为UTI组和非UTI组,比较2组临床资料;通过Lasso-Logistic回归分析膀胱癌患者术后UTI的影响因素,根据影响因素构建Lasso-Logistic预测模型;通过受试者工作特征(ROC)曲线、决策曲线分析(DCA)评价模型的预测效能和临床效用。结果 膀胱癌患者TURBT后住院期间UTI发生率为12.50%(115/920);Lasso-Logistic回归分析显示,年龄、高血压、糖尿病、血清降钙素原(PCT)、白细胞介素-6(IL-6)、C反应蛋白(CRP)、外周血CD3^(+)、CD4^(+)/CD8^(+)、免疫球蛋白A(IgA)、免疫球蛋白M(IgM)、尿液基质金属蛋白酶-7(MMP-7)、表面活性蛋白A(SP-A)和表面活性蛋白D(SP-D)均为膀胱癌患者术后发生UTI的独立影响因素(P<0.05)。根据影响因素构建Lasso-Logistic预测模型为:Logit(P)=-2.516+1.109×年龄+1.002×糖尿病+1.359×高血压+1.496×CRP+1.726×PCT+1.562×IL-6-1.155×CD3^(+)-1.280×CD4^(+)/CD8^(+)-1.032×IgA-1.411×IgM+1.589×MMP-7-0.843×SP-A-0.799×SP-D。ROC曲线结果显示,该模型预测膀胱癌患者术后发生UTI的曲线下面积(AUC)为0.944(95%CI:0.927~0.958),敏感度、特异度分别为87.83%、85.22%;DCA结果显示,该模型具有明显的正向净收益。结论 膀胱癌患者TURBT后UTI发生率较高,根据影响因素构建Lasso-Logistic预测模型可为临床预测UTI发生风险提供可靠参考依据。

Pediatric vascular tumors of the liver:Review from the pathologist’s point of view

Differential diagnosis of pediatric vascular liver tumors can be challenging due to inconsistent nomenclature,histologic overlap and the rarity of some entities.Here we give an up-to-date overview of the most important entities.We discuss the clinic,histology and pathophysiology of hepatic congenital and infantile heman-gioma,hepatic epithelioid hemangioendothelioma and hepatic angio-sarcoma.

Gastrointestinal Stromal Tumors (GISTs), Surgical Management and Clinical Outcome

Introduction: This study investigated the incidence, surgical management and outcome of Gastrointestinal Stromal Tumors (GIST) in Upper Egypt. Methods: A retrospective review of all GIST patients admitted a South Egypt Cancer Institute between Jan. 2010 and Dec. 2015 was conducted. Patients’ demographics, clinical presentation, tumor characteristics, radiological, pathological and immunohistochemical findings, surgical procedures, recurrence and mortality were recorded. Results: A total of 36 GIST patients were identified, stomach was the most common site (27.8%) followed by the small intestine (19.4%) and the large intestine (16.7%). The mean age at time of diagnosis as 52.8 ± 14.4 (ranged from 17 to 76 years). Of these 36 cases, 20 (55.6%) cases were males and 16 (44.4%) cases were females with a ratio of 1.2:1. About 22 cases (61.1%) presented with primary tumors, eight cases (22.2%) had primary tumors and metastases, three cases (8.35) presented with recurrent mass, whereas one case (2.2%) presented either with recurrent mass and metastases or metastases only. The majority of cases (22) had tumorsize >5 cm. Patients were stratified as high, intermediate, low and very low risk (50.6%, 30.6%, 11.1% and 2.8%, respectively). Almost all the cases were surgically managed and 75% were completely resectable. During follow up (average 26.5 months), 22 patients showed complete recovery, 7 had recurrent or metastatic disease and 2 died due to liver metastasis. Conclusion: The incidence of GIST in Upper Egypt is apparently low. Surgical resection is the preferred choice of treatment. The demographic data of GIST patients in South Egypt Cancer institute were similar to those published in the literature. Other prospective studies are required to assess the prognosis and the effect of treatment.

Primary Extra-Gastrointestinal Stromal Tumors (E-GIST) of the Liver, about Two Cases and Review of the Literature Oncology Hospital Experience at Chu Hassan II in FES

Introduction: Primary extra-gastrointestinal stromal tumors (E-GIST) of the liver are rare. The clinical presentation can range from asymptomatic to bleeding or manifestations of mass effect. Cancer surgery followed by adjuvant treatment with imatinib is the standard of care. However, in special circumstances, a cytoreductive approach may represent a therapeutic option. We describe here the case of two patients who presented with a painful and protruding epigastric mass, the first case was a localized E-GIST candidate for neoadjuvant treatment with imatinib with complete resection surgery thereafter with very good evolution, and the second is that of an E-GIST of the liver at an advanced stage with an evolution very quick to death. Conclusion: Primary liver E-GIST is a rare condition. Treatment is based on systemic therapy and total resection surgery. However, cytoreductive surgery will be required when complete resection is not possible.

Management Colorectal Gastrointestinal Stromal Tumors (Gists) in Surabaya

Introduction: Colorectal gastrointestinal stromal tumors (GISTs) mesenchymal tumor is very uncommon. GISTs effect mostly on the stomach and small intestine and rarely occur in the colon, rectum and esophagus, that originating from precursors of the interstitial cells that originate of Cajal. The symptoms of gastrointestinal stromal tumor depend on the site and size of the tumor, and may include abdominal pain, gastrointestinal bleeding or signs of obstruction;small tumors may, however, be asymptomatic. Some of the patients with gastrointestinal stromal tumor have bloody stools, obstruction and abdominal pain as the commonest manifestation. Immunocytochemical staining for CD117 is helpful in confirming the diagnosis. Case presentation: We report 3 new cases of GISTs: two occurred at the rectal and the other at descending Colon. Two cases are over 50 years of age and, and all cases the chief complain of bowel obstruction, abdominal pain in two cases, and one case with anemia and urine retention. All the patients were operated and were permormed pathology examinatiom. All case ware positive result for immunocytochemical staining CD117. All cases we had presented had size more than 5 cm are considered as unfavorable prognostic factors to Fletcher criteria, all patients scheduled for chemotherapy with Glivec but just one patient continued to used Glivec. Post surgery follows up one patient post milles with urinary incontinence complaints found and that patients are trained to CIC (intermittent catheterization). Conclusion: Colorectal gastrointestinal stromal tumors are very rare and can present as mass abdomen. Resection and chemotherapy are the treatment of choice.

Advancements in medical treatment for pancreatic neuroendocrine tumors:A beacon of hope

This editorial highlights the remarkable advancements in medical treatment strategies for pancreatic neuroendocrine tumors(pan-NETs),emphasizing tailored approaches for specific subtypes.Cytoreductive surgery and somatostatin analogs(SSAs)play pivotal roles in managing tumors,while palliative options such as molecular targeted therapy,peptide receptor radionuclide therapy,and chemotherapy are reserved for SSA-refractory patients.Gastrinomas,insul-inomas,glucagonomas,carcinoid tumors and VIPomas necessitate distinct thera-peutic strategies.Understanding the genetic basis of pan-NETs and exploring immunotherapies could lead to promising avenues for future research.This review underscores the evolving landscape of pan-NET treatment,offering renewed hope and improved outcomes for patients facing this complex disease.

Results of the Management of Gastrointestinal Stromal Tumors (GIST): About 6 Cases at the Vichy Hospital Center (France)

The aim of our study was to analyze the results of surgical management of gastrointestinal stromal tumors (GIST) at the Vichy Hospital Center. Methodology: Between 2010 and 2020, the data of 6 patients operated at the Vichy Hospital Center for GIST were analyzed. The parameters studied were: age, sex, antecedents, discovery circumstances, imagery, surgical procedure, anatomopathological data, the follow-up and the morbidity-mortality. Results: There were 5 men and one woman with an average age of 72.16 years [58 - 80 years]. The average time of evolution was 8 months (0 - 14 months). The diagnosis was fortuitous in 2 cases. Atypical abdominal pain was the main symptom in 3 cases. One case was received in a clinical picture of peritoneal irritation syndrome. Echo-endoscopy with biopsy specimen histology made it possible to make the diagnosis in 5 cases and the surgical specimen in 1 case. The fusiform type was the predominant histological form. The stomach was the most common location. The average size of GISTs was 7.3 × 4 cm with a positive C Kit in all patients. Neoadjuvant chemotherapy was performed on one patient. Surgery was curative and was done laparoscopically on 4 patients. Adjuvant chemotherapy based on Imatinib at a rate of 400 mg/d in 3 patients was initiated. One patient presented a fistula of the esophagus-jejunal anastomosis on D6 post operation controlled by a drainage and an antibiotic therapy. Mortality was zero. During the surgery, all of the patients were followed up with surgeon, oncologist. Conclusion: GISTs are the most common mesenchymal tumors of the digestive tract with a preferential gastric location. Laparoscopic surgery, with advances in molecular biology and the introduction of targeted therapy has improved the management of these tumors in terms of morbidity and mortality.

Double-nylon purse-string suture in closing postoperative wounds following endoscopic resection of large(≥3 cm)gastric submucosal tumors

BACKGROUND Endoscopic full-thickness resection(EFTR)of gastric submucosal tumors(SMTs)is safe and effective;however,postoperative wound management is equally important.Literature on suturing following EFTR for large(≥3 cm)SMTs is scarce and limited.AIM To evaluate the efficacy and clinical value of double-nylon purse-string suture in closing postoperative wounds following EFTR of large(≥3 cm)SMTs.METHODS We retrospectively analyzed the data of 85 patients with gastric SMTs in the fundus of the stomach or in the lesser curvature of the gastric body whose wounds were treated with double-nylon purse-string sutures after successful tumor resection at the Endoscopy Center of Renmin Hospital of Wuhan University.The operative,postoperative,and follow-up conditions of the patients were evaluated.RESULTS All tumors were completely resected using EFTR.36(42.35%)patients had tumors located in the fundus of the stomach,and 49(57.65%)had tumors located in the body of the stomach.All patients underwent suturing with double-nylon sutures after EFTR without laparoscopic assistance or further surgical treatment.Postoperative fever and stomach pain were reported in 13(15.29%)and 14(16.47%)patients,respectively.No serious adverse events occurred during the intraoperative or postoperative periods.A postoperative review of all patients revealed no residual or recurrent lesions.CONCLUSION Double-nylon purse-string sutures can be used to successfully close wounds that cannot be completely closed with a single nylon suture,especially for large(≥3 cm)EFTR wounds in SMTs.

Metformin and pancreatic neuroendocrine tumors:A systematic review and meta-analysis

BACKGROUND Most patients with advanced pancreatic neuroendocrine tumors(pNETs)die due to tumor progression.Therefore,identifying new therapies with low toxicity and good tolerability to use concomitantly with the established pNET treatment is relevant.In this perspective,metformin is emerging as a molecule of interest.Retrospective studies have described metformin,a widely used agent for the treatment of patients with type 2 diabetes mellitus(T2DM),to be effective in modulating different tumor-related events,including cancer incidence,recurrence and survival by inhibiting mTOR phosphorylation.This systematic review evaluates the role of T2DM and metformin in the insurgence and post-treatment outcomes in patients with pNET.AIM To systematically analyze and summarize evidence related to the diagnostic and prognostic value of T2DM and metformin for predicting the insurgence and posttreatment outcomes of pNET.METHODS A systematic review of the published literature was undertaken,focusing on the role of T2DM and metformin in insurgence and prognosis of pNET,measured through outcomes of tumor-free survival(TFS),overall survival and progression free survival.RESULTS A total of 13 studies(5674 patients)were included in this review.Analysis of 809 pNET cases from five retrospective studies(low study heterogeneity with I^(2)=0%)confirms the correlation between T2DM and insurgence of pNET(OR=2.13,95%CI=1.56-4.55;P<0.001).The pooled data from 1174 pNET patients showed the correlation between T2DM and post-treatment TFS in pNET patients(hazard ratio=1.84,95%CI=0.78-2.90;P<0.001).The study heterogeneity was intermediate,with I^(2)=51%.A few studies limited the possibility of performing pooled analysis in the setting of metformin;therefore,results were heterogeneous,with no statistical relevance to the use of this drug in the diagnosis and prognosis of pNET.CONCLUSION T2DM represents a risk factor for the insurgence of pNET and is a significant predictor of poor post-treatment TFS of pNET patients.Unfortunately,a few studies with heterogeneous results limited the possibility of exploring the effect of metformin in the diagnosis and prognosis of pNET.

Evaluation of the diagnostic value of tumor markers with ROC and logistic regression in gastrocolic tumors

Objective: The aim of the study was to evaluate the clinical significance of multiple tumor markers (CEA, AFP, CA72-4 and CA19-9) in patients with gastrocolic tumors by receiver operating characteristic (ROC) curve and stepwise logistic regression (LR) analysis. Methods: The serum concentrations of CEA, AFP, CA72-4 and CA19-9 were measured with electrochemiluminescence immunoassay in 126 patients with gastrocolic tumors, 137 patients with benign gastrocolic disorders and 109 healthy controls. The area under the ROC curve (AUC) of CEA, AFP, CA72-4 and CA19-9 and stepwise LR results were compared by sensitivity, specificity, Youden's index and positive likelihood ratio/negative likelihood ratio. Results: The levels of four tested tumor markers in patients with gastrocolic tumors were significantly higher than those in benign gastrocolic group and normal controls. In the benign gastrocolic group, the AUC from stepwise logistic regression was larger than the AUC of four tumor markers respectively. Sensitivity, Youden's index and positive likelihood ratio/negative likelihood ratio were the highest in the combination assay of CA72-4, CEA, and CA19-9, as compared with one of the tumor markers alone. Conclusion: The use of ROC established by LR analysis model improved the diagnostic accuracy of gastrocolic tumors. For the screening of gastrocolic tumors, the AUC value of the combination probability index (sensitivity and specificity) was significantly higher than the values of the different tumour markers.

Avoiding misdiagnosis of multilocular thymic cysts as malignant tumors on computer tomography

This editorial provides insights from a case report by Sun et al published in the World Journal of Clinical Cases.The case report focuses on a case where a multilocular thymic cyst(MTC)was misdiagnosed as a thymic tumor,resulting in an unnecessary surgical procedure.Both MTCs and thymic tumors are rare conditions that heavily rely on radiological imaging for accurate diagnosis.However,the similarity in their imaging presentations can lead to misinterpretation,resulting in unnecessary surgical procedures.Due to the ongoing lack of comprehensive knowledge about MTCs and thymic tumors,we offer a summary of diagnostic techniques documented in recent literature and examine potential causes of misdiagnosis.When computer tomography(CT)values surpass 20 Hounsfield units and display comparable morphology,there is a risk of misdiagnosing MTCs as thymic tumors.Employing various differential diagnostic methods like biopsy,molecular biology,multi-slice CT,CT functional imaging,positron emission tomography/CT molecular functional imaging,magnetic resonance imaging and radiomics,proves advantageous in reducing clinical misdiagnosis.A deeper understanding of these conditions requires increased attention and exploration by healthcare providers.Moreover,the continued advancement and utilization of various diagnostic methods are expected to enhance precise diagnoses,provide appropriate treatment options,and improve the quality of life for patients with thymic tumors and MTCs in the future.continued advancement and utilization of various diagnostic methods are expected to enhance precise diagnoses,provide appropriate treatment options,and improve the quality of life for patients with thymic tumors and MTCs in the future.

Two different mutational types of familial gastrointestinal stromal tumors:Two case reports

BACKGROUND Gastrointestinal stromal tumors(GISTs)are the most common mesenchymal tumors of the gastrointestinal(GI)tract,and cases of GISTs tend to be of the disseminated type,with a global incidence of 10 to 15 cases/million each year.The rarer familial GISTs,which often represent a population,differ in screening,diagnosis,and treatment.Familial GISTs include primary familial GISTs with predominantly KIT/PDGFRA mutations and wild-type GISTs.However,whether the same genetic family has different phenotypes has not been reported.CASE SUMMARY We report two cases of rare GISTs in the same family:A male patient with the V561D mutation in exon 12 of the PDGFRA gene,who has been taking the targeted drug imatinib since undergoing surgery,and a female patient diagnosed with wild-type GIST,who has been taking imatinib for 3 years since undergoing surgery.The favorable prognosis of these patients during the 7-year follow-up period validates the accuracy of our treatment strategy,and we have refined the entire process of diagnosis and treatment of familial GISTs in order to better manage this rare familial disease.CONCLUSION Different mutation types of familial GISTs in the same family are very rare,thus it is very important to make the correct diagnosis and treatment strategies according to the results of molecular detection for the management of familial GISTs.

Extragastrointestinal stromal tumors with diffuse membranous distribution with bleeding:A case report

BACKGROUND Extragastrointestinal stromal tumors(EGIST)and gastrointestinal stromal tumors are of similar pathological type and form.Here we report a rare case of EGIST diffusely distributed in membranous tissue in abdominal cavity,the feature of which included diffuse tumors at membranous tissue in entire abdominal cavity and spontaneous bleeding of the tumors.CASE SUMMARY The patient was a 71-year man and hospitalized due to continuous pain at lower abdomen for more than 10 days.Upon physical examination,the patient had flat and tough abdomen with mild pressing pain at lower abdomen,no obvious abdominal mass was touchable,and shifting dullness was positive.Positron emission tomography-computed tomography(CT)showed that in his peritoneal cavity,there were multiple nodules of various sizes,seroperitoneum,multiple enlarged lymph nodes in abdominal/pelvic cavity and right external ilium as well as pulmonary nodules.Plain CT scanning at epigastrium/hypogastrium/pelvic cavity+enhanced three-dimensional reconstruction revealed multiple soft tissue nodules in abdominal/pelvic cavity,peritoneum and right groin.Tumor marker of carbohydrate antigen 125 was 808 U/mL,diffuse tuberous tumor was seen in abdominal/pelvic cavity during operation with hematocelia,and postoperative pathological examination confirmed EGIST.Imatinib was administered with better therapeutic effect.CONCLUSION Gene testing showed breast cancer susceptibility gene 1 interacting protein C-terminal helicase 1 and KIT genovariation,and the patient was treated with imatinib follow-up visit found that his clinical symptoms disappeared and the tumor load alleviated obviously via imageological examination.

Nationwide questionnaire survey on pediatric pancreatic tumors in Japan

BACKGROUND Pediatric pancreatic tumors are rare and account for<0.1%of all childhood cancers.The primary treatment for pancreatic tumors is surgical resection.However,because of the lack of knowledge regarding pediatric pancreatic tumors,no comprehensive treatment plans for pediatric pancreatic tumors have been developed.AIM To compared the clinical features,treatment methods,and prognosis of pediatric pancreatic tumors in Japan with those in other countries.METHODS Questionnaires were sent to 213 pediatric surgical units in Japan.Pancreatic tumors that were not surgically treated were excluded from the survey.The primary survey investigated the number of patients aged 0-18 years who underwent pancreatic tumor surgery and the type of tumors managed during the 22-year study period(from January 1,2000 to December 31,2021)by post card.The secondary survey assessed the clinical images,treatment methods,and tumor outcomes via email.RESULTS The primary survey enrolled 228 patients.In the secondary survey,213 patients were eventually enrolled.The most common type of pancreatic tumor was solid pseudopapillary neoplasm(SPN)[n=164(77.0%)],followed by pancreatoblastoma[n=16(7.5%)],pancreatic endocrine tumor[n=14(6.6%)],non-epithelial tumor[n=9(4.2%)],pancreatic tumor[n=7(3.3%)],and metastatic pancreatic tumor[n=3(1.4%)].Overall,123(57.7%)patients underwent distal pancreatectomy,of whom 49 underwent laparoscopic surgery.Forty-four(20.7%)patients underwent enucleation,of whom eight underwent laparoscopic surgery.Thirty-two(15.0%)patients underwent pancreaticoduodenectomy,of whom one underwent laparoscopic surgery.All patients with SPN,including those with distant metastases and recurrent disease,survived.CONCLUSION SPN was more common in Japan than in other countries.Regardless of the histological type,resection is the most effective treatment for pediatric pancreatic tumors.