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Utilizing bioinformatics for integrated analysis of multiple genes in the diagnosis and pathogenesis of metastatic pheochromocytoma and paraganglioma

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Oncology and Translational Medicine 2024年第1期10卷 13-21页

作者： Chun-Lei Zhang Rui Wang Fo-Rong Li De-Hui Chang Department ofUrology The 940 Hospital of Joint Logistics Support Force of Chinese PLALanzhouChina Clinical Medicine Department Northwest Minzu UniversityLanzhouChina.

Objective:The aim of the study was to investigate effective diagnostic molecular markers and the specific mechanisms of metastatic pheochromocytomas and paragangliomas(PPGLs).Methods:Data were collected from GEO datasets GSE67066 and *** R software and various packages were utilized for the analysis of differentially expressed genes,Gene Ontology analysis,Kyoto Encyclopedia of Genes and Genomes analysis,receiver operating characteristic curve assessment,logistic model construction,and correlation *** NetworkAnalyst tool was used to analyze gene-miRNA interactions and signaling *** addition,the TIMER database was used to estimate the immune ***:A total of 203 and 499 differentially expressed genes were identified in GSE67066 and GSE60458,*** genes are implicated in cytokine and cytokine receptor interactions,extracellular matrix–receptor interactions,and platelet activation signaling ***,MAMLD1,UST,MATN2,LPL,TWIST1,SFRP4,FRMD6,RBM24,PRIMA1,LYPD1,KCND2,CAMK2N1,SPOCK3,and ALPK3 were identified as the key *** them,MATN2 and TWIST1 were found to be coexpressed with epithelial-mesenchymal transition–linked markers,whereas KCND2 and LPL exhibited associations with immune checkpoint expression and immune cell *** miRNAs were identified as potential regulators of key gene expression,and it was noted that TWIST1 might be regulated by ***,the area under the curve of the 4-gene model for distinguishing between malignant and benign groups was calculated to be ***:The combined gene and mRNA expression model enhances the diagnostic accuracy of assessing PPGL metastatic *** findings suggest that multiple genes may play a role in the metastasis of PPGLs through the epithelial-mesenchymal transition and may influence the immune microenvironment.

关键词： Diagnosis Epithelial-mesenchymal transition(EMT) Immunity Metastasis paraganglioma Pheochromocytoma

Pancreatic paraganglioma with multiple lymph node metastases found by spectral computed tomography: A case report and review of the literature

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World Journal of Clinical Cases 2022年第31期10卷 11638-11645页

作者： Ting Li Rong-Qi Yi Gang Xie Dan-Ni Wang Yi-Tao Ren Kang Li Department of Medical Imaging North Sichuan Medical CollegeNanchong 637000Sichuan ProvinceChina Department of Radiology Chongqing General HospitalChongqing 401147China Department of Medical Imaging Chongqing Medical UniversityChongqing 400016China

BACKGROUND Primary pancreatic paraganglioma is exceedingly *** patients with pancreatic paraganglioma lack a typical clinical presentation,and the tumor is difficult to accurately differentiate from other pancreatic neuroendocrine tumors,making the misdiagnosis rate extremely *** excision is the primary treatment modality but is considered high *** of its rich vascularity,the tumor easily bleeds during surgery,especially malignant paragangliomas invading large blood ***,a thorough preoperative evaluation of the tumor is ***,we report a primary malignant pancreatic paraganglioma,the second such case in a young patient that was successfully resected *** SUMMARY A 26-year-old female patient was admitted to the hospital with unexplained abdominal ***-layer spectral-detector computed tomography(DLCT)revealed a mixed density mass in the pancreatic body and *** patient was transferred to our hospital after previous failed surgical resection at other *** patient and her family strongly desired *** a thorough preoperative evaluation and adequate preparation,a large mass with the greatest dimension of 8.0 cm was successfully *** final pathological diagnosis was malignant *** patient was discharged in good condition 2 wk *** The rare malignant pancreatic paraganglioma reported here was difficult to diagnose *** filling of the draining vein may be a crucial diagnostic imaging *** can provide more precise information for surgical resection through dual-energy imaging.

关键词： Spectral computed tomography Pancreas paraganglioma Lymph node metastasis Case report

Bladder paraganglioma after kidney transplantation:A case report

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World Journal of Clinical Cases 2022年第25期10卷 9044-9049页

作者： Lin Wang Yan-Ning Zhang Guang-Yong Chen Department of Pathology Beijing Friendship HospitalCapital Medical UniversityBeijing 100050China

BACKGROUND Kidney transplantation is associated with an increased risk of tumors in the urinary *** all the pathological types of tumors in the bladder,paraganglioma,which arises from extra-adrenal paraganglia and consists of chromaffin cells,is *** might cause severe clinical symptoms due to catecholamine hypersecretion or mass *** paragangliomas are rare,especially those appearing after kidney ***,we report a case of bladder paraganglioma developing after kidney *** SUMMARY A 63-year-old woman received a kidney transplant 12 years ago and took oral immunosuppressants(cyclosporine,mizoribine,and methylprednisolone)for regular post-transplant *** patient felt no discomfort and she came to the hospital for a routine checkup.A mass located in the bladder was incidentally discovered by computed tomography,and she underwent surgical treatment.A 2 cm×2 cm invasive mass was found in the trigone of the bladder and the mass was *** diagnosis of paraganglioma was confirmed by morphology and *** patient had a good prognosis and is still *** paraganglioma can grow in the bladder,which might cause no clinical *** diagnosis mainly depends on morphology and *** resection is an important treatment option for such patients.

关键词： paraganglioma Urinary bladder tumor Kidney transplantation Case report

Different intraoperative decisions for undiagnosed paraganglioma:Two case reports

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World Journal of Clinical Cases 2022年第30期10卷 11059-11065页

作者： Dongho Kang Bo-eun Kim Minjae Hong Joungmin Kim Seongtae Jeong Seongheon Lee Department of Anesthesiology and Pain Medicine Chonnam National University Medical SchoolChonnam National University HospitalGwangju 61469South Korea

BACKGROUND paragangliomas may be preoperatively misdiagnosed as non-functioning retroperitoneal tumors and are sometimes suspected only at the time of intraoperative *** preoperative alpha blockade preparation,a hypertensive crisis during tumor manipulation and hypotension after tumor removal may result in critical ***,primary consideration should be given to the continuation or discontinuation of surgery on the basis of the possibility of gentle surgical manipulation and hemodynamic *** report two cases of paragangliomas detected *** SUMMARY A 65-year-woman underwent laparoscopic small-bowel wedge resection.A hypertensive crisis occurred during manipulation of the mass,and an unrecognized catecholamine-producing paraganglioma was *** surgeon and anesthesiologists believed that tumor excision could be performed with minimal manipulation of the tumor because the tumor was in a favorable *** hemodynamic instability did not occur with aggressive use of vasoactive drugs.A week later,a 54-year-man underwent open resection of a 3-cm-sized retroperitoneal mass and showed the same findings during mass *** this patient,continuous manipulation of the mass seemed inevitable due to adhesion between the right adrenal gland and the mass in a narrow surgical *** surgeon and anesthesiologists decided to cancel the surgical procedure and planned to perform a reoperation after alpha blockade *** weeks later,the tumor was uneventfully removed with small doses of vasoactive *** When an undiagnosed paraganglioma is suspected intraoperatively,reoperation after adequate preparation should be considered as an option to avoid fatal outcomes.

关键词： paraganglioma Undiagnosed diseases Hypertensive crisis Preoperative alpha blockade Surgery cancellation Neuroendocrine tumors Case report

Nonfunctional bladder paraganglioma misdiagnosed as hemangioma:A case report

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World Journal of Clinical Cases 2022年第15期10卷 4929-4934页

作者： Jiao Chen Han-Feng Yang Department of Obstetrics and Gynecology Affiliated Hospital of North Sichuan Medical CollegeNanchong 637000Sichuan ProvinceChina Department of Radiology Affiliated Hospital of North Sichuan Medical CollegeNanchong 637000Sichuan ProvinceChina

BACKGROUND paraganglioma of the urinary bladder(PUB)is a nonepithelial tumor of the bladder that is also known as bladder *** incidence of nonfunctional paraganglioma of the urinary bladder is rare in clinical *** SUMMARY A case of nonfunctional paraganglioma of the urinary bladder diagnosed and treated in our hospital is reported herein.A 2.5 cm×2.1 cm moderate-echo mass protruding into the right anterior wall of the bladder was incidentally found during transvaginal color Doppler ultrasound *** on a contrastenhanced computed tomography scan of the bladder,the right anterior wall of the bladder was considered to present a *** patient underwent laparoscopic partial resection of the bladder wall in our hospital,and pathological results showed paraganglioma of the *** present,we have followed up with the patient for half a year,and there has been no recurrence of the *** The imaging patterns of PUB and bladder hemangioma are *** clinical practice,the possibility of PUB should be considered for a single wide-based isoechoic mass in the bladder,especially functional PUB may cause some adverse effects during surgery.

关键词： Bladder tumor paraganglioma Diagnosis and treatment methods Case report

Primary hypertension in a postoperative paraganglioma patient:A case report

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World Journal of Clinical Cases 2022年第22期10卷 7931-7935页

作者： Jian-Hui Wei Hai-Li Yan Department of Vasculocardiology Sanmenxia Central HospitalSanmenxia 472000Henan ProvinceChina

BACKGROUND Primary hypertension is a common clinical *** and paraganglioma is a rare cause of secondary *** diagnosis of the latter is still difficult,and the relationship between the two is not *** successful diagnosis of this case confirmed that standardized etiological investigation of secondary hypertension is necessary,contributes to the accurate diagnosis of rare diseases,and is conducive to the formulation or optimization of treatment *** shows an example of the coexistence of primary hypertension and secondary *** SUMMARY The patient was a 54-year-old male and was hospitalized with high blood pressure for 4 *** patient’s blood pressure was measured at 150/100 mmHg during physical examination 4 years ago and had no paroxysmal or persistent elevated blood pressure,no typical triad of headache,palpitation,and sweating,without postural *** taking nifedipine sustained release tablets intermittently,the blood pressure did not meet the *** examination revealed blood pressure of 180/120 *** was no abnormality in cardiopulmonary and abdominal *** results of blood and/or urinary catecholamines/metanephrine and normetanephrine before and after operation were *** examination revealed retinal arteriosclerosis in both *** was a history of paraganglioma diagnosed by pathology after retroperitoneal tumor resection,a family history of hypertension,and a history of passive *** clinical diagnosis was subclinical paraganglioma,primary hypertension,and hypertensive fundus *** patient’s blood pressure was regulated,blood lipid was reduced,and anti-inflammatory,and symptomatic support were *** treatment,the blood pressure was stable and up to standard without discomfort *** Subclinical paraganglioma and primary hypertension can *** holistic thinking in clinical practice is helpful to the early diagnosis of

关键词： paraganglioma Primary hypertension Secondary hypertension Diagnosis and Differential diagnosis Genetic Case report

Primary intra-abdominal paraganglioma:A case report

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World Journal of Clinical Cases 2023年第10期11卷 2276-2281页

作者： Wei Guo Wei-Wei Li Min-Jie Chen Ling-Yu Hu Xiao-Guang Wang Graduate School Zhejiang Chinese Medicine UniversityHangzhou 310053Zhejiang ProvinceChina Department of General Surgery Jiaxing The Second HospitalJiaxing 314000Zhejiang ProvinceChina Department of Hepatobiliary Surgery Jiaxing The Second HospitalJiaxing 314000Zhejiang ProvinceChina

BACKGROUND paragangliomas are rare neuroendocrine *** hereby report a case of a localized paraganglioma found in the abdominal cavity,and review the relevant literature to improve the understanding of this *** SUMMARY A 29-year-old Chinese female patient was referred to our hospital due to an abdominal mass found on physical *** revealed a mass in the left upper abdomen,suggestive of either a benign stromal tumor or an ectopic accessory *** radical resection was subsequently performed,and histopathological analysis confirmed the diagnosis of a *** patient was followed up 3 months post-operation,and reported good recovery with no *** Radical resection can effectively treat intra-abdominal paragangliomas,with few side effects and low recurrence *** addition,early and accurate diagnosis and timely intervention are essential for the prognosis of this disease.

关键词： Abdominal cavity paraganglioma Surgical treatment Case report

Gangliocytic paraganglioma of the duodenum： a case report

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Chinese Medical Journal 2012年第2期125卷 388-389页

作者： Wu Guo-cong Wang Kang-li Zhang Zhong-tao Capital Med Univ Beijing Friendship Hosp Dept Gen Surg Beijing 100050 Peoples R China

Gangliocytic paraganglioma of the duodenum is an extremely rare *** cases have been reported in the literature from 1957 to *** reported a 67-year-old man with gangliocytic paraganglioma of the duodenum.

关键词： paraganglioma duodenum gastroscopy digestive system surgical procedures

An unusual case of Carney triad with high level catecholamine- secreting but no existence of extra-adrenal paraganglioma

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Chinese Medical Journal 2010年第4期123卷 510-512页

作者： QIAO Gui-bin FANG Yi ZENG Wei-sheng PENG Li-jun HUANG Wen-jie Department of Thoracic Surgery General Hospital of Guangzhou Military Command of Chinese People's Liberation Army Guangzhou Guangdong 510010 China Department of Respiratory Medicine General Hospital of Guangzhou Military Command of Chinese People's Liberation Army Guangzhou Guangdong 510010 China

In 1977, Carney originally described the association of .gastric epithelioid leiomyosarcoma, pulmonary chondroma and extra-adrenal paraganglioma, and this unusual syndrome was subsequently called ＂Carney triad＂. At present, the diagnosis of Carney triad, requires at least two of three components-gastrointestinal stromal tumor （GIST）, pulmonary chondroma and extra-adrenal paraganglioma. Up to now, fewer than 80 cases of Carney triad have been reported worldwide.1 ^We described a case of incomplete Carney triad with multiple pulmonary chondromas and GIST. Although the patient was detected in high level secreting of catecholamine, no extra-adrenal paraganglioma has been found.

关键词： Carney triad pulmonary chondroma gastrointestinal stromal tumor paraganglioma