Approximately 40% of pheochromocytoma and paraganglioma(PPGL) cases are familial, typically presenting earlier with more complex symptoms. This paper synthesizes literature and guidelines to inform on clinical charact...Approximately 40% of pheochromocytoma and paraganglioma(PPGL) cases are familial, typically presenting earlier with more complex symptoms. This paper synthesizes literature and guidelines to inform on clinical characteristics and perioperative care for PPGL. Pheochromocytoma in von Hippel-Lindau(VHL) disease exhibits heightened secretion activity without significant perioperative hemodynamic changes. Tumors in multiple endocrine neoplasia type 2(MEN2) have a stronger endocrine function, which may induce hemodynamic fluctuations during surgery. Therefore, pheochromocytoma screening is essential at all stages of MEN2. Neurofibromatosis type 1(NF1) often presents multisystem lesions and can result in difficult airway. Pheochromocytoma should be evaluated when NF1 patients present hypertension. Pheochromocytoma and paraganglioma type 5 may present multiple lesions of pheochromocytoma or paraganglioma. In summary, hereditary PPGLs may present with severe lesions in other systems, beyond tumor function. A multi-disciplinary team(MDT) approach is often invaluable in perioperative management.展开更多
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 datas...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 GSE60458.The 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 analysis.The NetworkAnalyst tool was used to analyze gene-miRNA interactions and signaling networks.In addition,the TIMER database was used to estimate the immune scores.Results:A total of 203 and 499 differentially expressed genes were identified in GSE67066 and GSE60458,respectively.These genes are implicated in cytokine and cytokine receptor interactions,extracellular matrix–receptor interactions,and platelet activation signaling pathways.Notably,MAMLD1,UST,MATN2,LPL,TWIST1,SFRP4,FRMD6,RBM24,PRIMA1,LYPD1,KCND2,CAMK2N1,SPOCK3,and ALPK3 were identified as the key genes.Among 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 infiltration.Eight miRNAs were identified as potential regulators of key gene expression,and it was noted that TWIST1 might be regulated by SUZ12.Notably,the area under the curve of the 4-gene model for distinguishing between malignant and benign groups was calculated to be 0.918.Conclusions:The combined gene and mRNA expression model enhances the diagnostic accuracy of assessing PPGL metastatic potential.These 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.展开更多
目的:分析生化阴性嗜铬细胞瘤及副神经节瘤(pheochromocytomas and paragangliomas,PPGLs)的电子计算机断层扫描(computed tomography,CT)征象是否有别于生化阳性PPGLs,同时了解生化阳性PPGLs不同表型的CT征象是否存在差异。方法:回顾...目的:分析生化阴性嗜铬细胞瘤及副神经节瘤(pheochromocytomas and paragangliomas,PPGLs)的电子计算机断层扫描(computed tomography,CT)征象是否有别于生化阳性PPGLs,同时了解生化阳性PPGLs不同表型的CT征象是否存在差异。方法:回顾性分析131例PPGLs患者的术前腹部增强CT图像,包括肿瘤位置、大小、形态、囊变坏死、液-液分层、钙化、向心结节状强化、肿瘤内粗大血管、强化包膜、绝对廓清率及相对廓清率。根据生化水平,将患者分为生化阳性组和阴性组,阳性组进一步分为去甲肾上腺素型、肾上腺素型及多巴胺型。比较各组及各表型间的CT征象差异。结果:相较于生化阴性组,阳性组PPGLs更大(Z=-2.064,P=0.039)、囊变坏死(χ2=6.610,P=0.010)及向心结节状强化(χ2=3.909,P=0.048)的比例更高;相较于去甲肾上腺素型,肾上腺素型PPGLs更大(Z=-2.036,P=0.042)、强化包膜比例更高(χ2=7.242,P=0.007)。结论:肿瘤大小、囊变坏死及向心结节状强化的CT征象有助于术前诊断生化阴性PPGLs,肿瘤大小及强化包膜有助于解释去甲肾上腺素型及肾上腺素型PPGLs不同临床表现产生的机制。展开更多
目的探讨胰岛素瘤相关蛋白1(insulinoma-associated protein 1,INSM1)在嗜铬细胞瘤/副神经节瘤和肾上腺皮质腺瘤中的表达及其在鉴别诊断中的意义。方法采用免疫组化EnVision两步法检测INSM1在嗜铬细胞瘤/副神经节瘤和肾上腺皮质腺瘤中...目的探讨胰岛素瘤相关蛋白1(insulinoma-associated protein 1,INSM1)在嗜铬细胞瘤/副神经节瘤和肾上腺皮质腺瘤中的表达及其在鉴别诊断中的意义。方法采用免疫组化EnVision两步法检测INSM1在嗜铬细胞瘤/副神经节瘤和肾上腺皮质腺瘤中的表达。结果32例嗜铬细胞瘤中31例INSM1阳性(31/32,96.88%),其中高表达20例(20/32,62.50%)。9例肾上腺外副神经节瘤INSM1均阳性,其中高表达8例(8/9,88.89%)。33例肾上腺皮质腺瘤中INSM1均阴性。INSM1在嗜铬细胞瘤/副神经节瘤中的表达显著高于肾上腺皮质腺瘤(P<0.001)。INSM1高表达的嗜铬细胞瘤/副神经节瘤具有更高的Ki67增殖指数(P=0.016),但与患者性别(P=0.190)、年龄(P=0.439)、肿瘤TNM分期(P=0.793)、生长模式(P=0.495)、凝固性坏死(P=0.790)和脉管/包膜侵犯(P=0.790)均无显著相关性。INSM1鉴别嗜铬细胞瘤/副神经节瘤与肾上腺皮质腺瘤的敏感性为97.6%,特异性为100%,ROC曲线下面积为0.988。结论INSM1表达于嗜铬细胞瘤和副神经节瘤的细胞核,而不表达于肾上腺皮质腺瘤,可有效鉴别嗜铬细胞瘤/副神经节瘤和肾上腺皮质腺瘤。展开更多
BACKGROUND Paraganglioma(PGL)located in the retroperitoneum presents challenges in diagnosis and treatment due to its hidden location,lack of specific symptoms in the early stages,and absence of distinctive manifestat...BACKGROUND Paraganglioma(PGL)located in the retroperitoneum presents challenges in diagnosis and treatment due to its hidden location,lack of specific symptoms in the early stages,and absence of distinctive manifestations on imaging.CASE SUMMARY A 56-year-old woman presented with a left upper abdominal mass discovered 1 wk ago during a physical examination.She did not have a history of smoking,alcohol consumption,or other harmful habits,no surgical procedures or infectious diseases,and had a 4-year history of hypertension.Upon admission,she did not exhibit fever,vomiting,or abdominal distension.Physical examination indicated mild percussion pain in the left upper abdomen,with no palpable enlargement of the liver or spleen.Laboratory tests and tumor markers showed no significant abnormalities.Enhanced computed tomography and magnetic resonance imaging of the upper abdomen revealed a cystic solid mass in the left epigastrium measuring approximately 6.5 cm×4.5 cm,with inhomogeneous enhancement in the arterial phase,closely associated with the lesser curvature of the stomach and the pancreas.The patient underwent laparoscopic resection of the retroperitoneal mass,which was successfully removed without tumor rupture.A 12-month postoperative follow-up period showed good recovery.CONCLUSION This case report details the successful laparoscopic resection of a retroperitoneal subclinical PGL,resulting in a good recovery observed at the 12-month follow-up.Interestingly,the patient also experienced unexpected cure of hypertensive disease.展开更多
We reviewed the data of all patients managed for retroperitoneal paragangliomas(PGLs)between June 2010and June 2011 to present our experience concerning this uncommon entity to highlight diagnostic and therapeutic cha...We reviewed the data of all patients managed for retroperitoneal paragangliomas(PGLs)between June 2010and June 2011 to present our experience concerning this uncommon entity to highlight diagnostic and therapeutic challenges of retroperitoneal PGLs.All patients were admitted to the department of general and hepatobiliary surgery in the regional hospital of Jendouba,Tunisia.The size of the tumor was taken at its largest dimension,as determined in a computed tomography(CT)scan and pathological reports.There were 4 patients(all women)with a median age of 48 years(range46-56 years).Abdominal pain was the commonest presentation.CT showed and localized the tumors which were all retroperitoneal.All patients had successfu surgical resection of the tumors under invasive arterial blood pressure monitoring.One patient underwent surgery for a presumed tumor of the pancreatic head.The fresh-mount microscopic study of the peroperative biopsy yielded inflammatory tissue without malignancy and no resection was performed.Final histologica examination of the biopsy concluded PGL.A secondlaparotomy was performed and the tumor was entirely resected.The diagnosis was made after surgery by histology in all patients.The control of the blood pressure was improved after surgery in 3 patients.Paragangliomas are rare tumors.The retroperitoneal localization is uncommon.Complete surgical resection remains the only curative treatment but it is often challenging as these tumors are located near multiple vital blood vessels.展开更多
Pheochromocytomas or paragangliomas are rare and the diagnosis remains a challenge for clinicians.We present a woman suffering from recurrent myocardial infarction and cardiomyopathy,who was finally diagnosed with par...Pheochromocytomas or paragangliomas are rare and the diagnosis remains a challenge for clinicians.We present a woman suffering from recurrent myocardial infarction and cardiomyopathy,who was finally diagnosed with paraganglioma.Pheochromocytomas or paraganglioma should be considered in the differential diagnosis of a patient with symptoms possibly referring to acute coronary syndrome and cardiomyopathy.展开更多
Pheochromocytomas are tumors arising from the chromaffin cell of the adrenal gland and paragangliomas as tumors from extra-adrenal sympathetic chromaffin cells.The combined yearly incidence of pheochromocytoma and par...Pheochromocytomas are tumors arising from the chromaffin cell of the adrenal gland and paragangliomas as tumors from extra-adrenal sympathetic chromaffin cells.The combined yearly incidence of pheochromocytoma and paraganglioma(PPGL)is approximately 0.8 per 100000 person/year.Malignant pheochromocytoma is defined only by the presence of metastasis,as there is no confirmatory histology or biomarkers.The most common metastatic sites of these chromaffin tumors are the lymph node,bone,lungs,and liver.This review focuses on relevant clinical and immunohistological factors that are predictive of malignant PPGL or metastasis and determinants of prognosis.Findings showed that the risk of malignant PPGL,along with disease survival,is closely associated with age,primary tumor size,gender,synchronous metastasis,and absence of surgical excision.Other essential biomarkers or immunohistology investigated were galectin-3,COX-2,nm-23,microRNA-210,ERBB-2 overexpression and succinate dehydrogenase subunit mutation,which were predictive of malignancy as well as disease prognosis.Curative resection is possible but most metastatic diseases are amenable to radiopharmaceuticals and chemotherapy due to late presentation.Other therapeutic options,like molecular-targeted therapy,are still undergoing clinical trials.展开更多
文摘Approximately 40% of pheochromocytoma and paraganglioma(PPGL) cases are familial, typically presenting earlier with more complex symptoms. This paper synthesizes literature and guidelines to inform on clinical characteristics and perioperative care for PPGL. Pheochromocytoma in von Hippel-Lindau(VHL) disease exhibits heightened secretion activity without significant perioperative hemodynamic changes. Tumors in multiple endocrine neoplasia type 2(MEN2) have a stronger endocrine function, which may induce hemodynamic fluctuations during surgery. Therefore, pheochromocytoma screening is essential at all stages of MEN2. Neurofibromatosis type 1(NF1) often presents multisystem lesions and can result in difficult airway. Pheochromocytoma should be evaluated when NF1 patients present hypertension. Pheochromocytoma and paraganglioma type 5 may present multiple lesions of pheochromocytoma or paraganglioma. In summary, hereditary PPGLs may present with severe lesions in other systems, beyond tumor function. A multi-disciplinary team(MDT) approach is often invaluable in perioperative management.
基金supported by the Project of the 940 Hospital of the Joint Logistics Support Force of the Chinese PLA(no.2021yxky057).
文摘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 GSE60458.The 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 analysis.The NetworkAnalyst tool was used to analyze gene-miRNA interactions and signaling networks.In addition,the TIMER database was used to estimate the immune scores.Results:A total of 203 and 499 differentially expressed genes were identified in GSE67066 and GSE60458,respectively.These genes are implicated in cytokine and cytokine receptor interactions,extracellular matrix–receptor interactions,and platelet activation signaling pathways.Notably,MAMLD1,UST,MATN2,LPL,TWIST1,SFRP4,FRMD6,RBM24,PRIMA1,LYPD1,KCND2,CAMK2N1,SPOCK3,and ALPK3 were identified as the key genes.Among 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 infiltration.Eight miRNAs were identified as potential regulators of key gene expression,and it was noted that TWIST1 might be regulated by SUZ12.Notably,the area under the curve of the 4-gene model for distinguishing between malignant and benign groups was calculated to be 0.918.Conclusions:The combined gene and mRNA expression model enhances the diagnostic accuracy of assessing PPGL metastatic potential.These 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.
文摘目的:分析生化阴性嗜铬细胞瘤及副神经节瘤(pheochromocytomas and paragangliomas,PPGLs)的电子计算机断层扫描(computed tomography,CT)征象是否有别于生化阳性PPGLs,同时了解生化阳性PPGLs不同表型的CT征象是否存在差异。方法:回顾性分析131例PPGLs患者的术前腹部增强CT图像,包括肿瘤位置、大小、形态、囊变坏死、液-液分层、钙化、向心结节状强化、肿瘤内粗大血管、强化包膜、绝对廓清率及相对廓清率。根据生化水平,将患者分为生化阳性组和阴性组,阳性组进一步分为去甲肾上腺素型、肾上腺素型及多巴胺型。比较各组及各表型间的CT征象差异。结果:相较于生化阴性组,阳性组PPGLs更大(Z=-2.064,P=0.039)、囊变坏死(χ2=6.610,P=0.010)及向心结节状强化(χ2=3.909,P=0.048)的比例更高;相较于去甲肾上腺素型,肾上腺素型PPGLs更大(Z=-2.036,P=0.042)、强化包膜比例更高(χ2=7.242,P=0.007)。结论:肿瘤大小、囊变坏死及向心结节状强化的CT征象有助于术前诊断生化阴性PPGLs,肿瘤大小及强化包膜有助于解释去甲肾上腺素型及肾上腺素型PPGLs不同临床表现产生的机制。
文摘目的探讨胰岛素瘤相关蛋白1(insulinoma-associated protein 1,INSM1)在嗜铬细胞瘤/副神经节瘤和肾上腺皮质腺瘤中的表达及其在鉴别诊断中的意义。方法采用免疫组化EnVision两步法检测INSM1在嗜铬细胞瘤/副神经节瘤和肾上腺皮质腺瘤中的表达。结果32例嗜铬细胞瘤中31例INSM1阳性(31/32,96.88%),其中高表达20例(20/32,62.50%)。9例肾上腺外副神经节瘤INSM1均阳性,其中高表达8例(8/9,88.89%)。33例肾上腺皮质腺瘤中INSM1均阴性。INSM1在嗜铬细胞瘤/副神经节瘤中的表达显著高于肾上腺皮质腺瘤(P<0.001)。INSM1高表达的嗜铬细胞瘤/副神经节瘤具有更高的Ki67增殖指数(P=0.016),但与患者性别(P=0.190)、年龄(P=0.439)、肿瘤TNM分期(P=0.793)、生长模式(P=0.495)、凝固性坏死(P=0.790)和脉管/包膜侵犯(P=0.790)均无显著相关性。INSM1鉴别嗜铬细胞瘤/副神经节瘤与肾上腺皮质腺瘤的敏感性为97.6%,特异性为100%,ROC曲线下面积为0.988。结论INSM1表达于嗜铬细胞瘤和副神经节瘤的细胞核,而不表达于肾上腺皮质腺瘤,可有效鉴别嗜铬细胞瘤/副神经节瘤和肾上腺皮质腺瘤。
文摘BACKGROUND Paraganglioma(PGL)located in the retroperitoneum presents challenges in diagnosis and treatment due to its hidden location,lack of specific symptoms in the early stages,and absence of distinctive manifestations on imaging.CASE SUMMARY A 56-year-old woman presented with a left upper abdominal mass discovered 1 wk ago during a physical examination.She did not have a history of smoking,alcohol consumption,or other harmful habits,no surgical procedures or infectious diseases,and had a 4-year history of hypertension.Upon admission,she did not exhibit fever,vomiting,or abdominal distension.Physical examination indicated mild percussion pain in the left upper abdomen,with no palpable enlargement of the liver or spleen.Laboratory tests and tumor markers showed no significant abnormalities.Enhanced computed tomography and magnetic resonance imaging of the upper abdomen revealed a cystic solid mass in the left epigastrium measuring approximately 6.5 cm×4.5 cm,with inhomogeneous enhancement in the arterial phase,closely associated with the lesser curvature of the stomach and the pancreas.The patient underwent laparoscopic resection of the retroperitoneal mass,which was successfully removed without tumor rupture.A 12-month postoperative follow-up period showed good recovery.CONCLUSION This case report details the successful laparoscopic resection of a retroperitoneal subclinical PGL,resulting in a good recovery observed at the 12-month follow-up.Interestingly,the patient also experienced unexpected cure of hypertensive disease.
文摘We reviewed the data of all patients managed for retroperitoneal paragangliomas(PGLs)between June 2010and June 2011 to present our experience concerning this uncommon entity to highlight diagnostic and therapeutic challenges of retroperitoneal PGLs.All patients were admitted to the department of general and hepatobiliary surgery in the regional hospital of Jendouba,Tunisia.The size of the tumor was taken at its largest dimension,as determined in a computed tomography(CT)scan and pathological reports.There were 4 patients(all women)with a median age of 48 years(range46-56 years).Abdominal pain was the commonest presentation.CT showed and localized the tumors which were all retroperitoneal.All patients had successfu surgical resection of the tumors under invasive arterial blood pressure monitoring.One patient underwent surgery for a presumed tumor of the pancreatic head.The fresh-mount microscopic study of the peroperative biopsy yielded inflammatory tissue without malignancy and no resection was performed.Final histologica examination of the biopsy concluded PGL.A secondlaparotomy was performed and the tumor was entirely resected.The diagnosis was made after surgery by histology in all patients.The control of the blood pressure was improved after surgery in 3 patients.Paragangliomas are rare tumors.The retroperitoneal localization is uncommon.Complete surgical resection remains the only curative treatment but it is often challenging as these tumors are located near multiple vital blood vessels.
文摘Pheochromocytomas or paragangliomas are rare and the diagnosis remains a challenge for clinicians.We present a woman suffering from recurrent myocardial infarction and cardiomyopathy,who was finally diagnosed with paraganglioma.Pheochromocytomas or paraganglioma should be considered in the differential diagnosis of a patient with symptoms possibly referring to acute coronary syndrome and cardiomyopathy.
文摘Pheochromocytomas are tumors arising from the chromaffin cell of the adrenal gland and paragangliomas as tumors from extra-adrenal sympathetic chromaffin cells.The combined yearly incidence of pheochromocytoma and paraganglioma(PPGL)is approximately 0.8 per 100000 person/year.Malignant pheochromocytoma is defined only by the presence of metastasis,as there is no confirmatory histology or biomarkers.The most common metastatic sites of these chromaffin tumors are the lymph node,bone,lungs,and liver.This review focuses on relevant clinical and immunohistological factors that are predictive of malignant PPGL or metastasis and determinants of prognosis.Findings showed that the risk of malignant PPGL,along with disease survival,is closely associated with age,primary tumor size,gender,synchronous metastasis,and absence of surgical excision.Other essential biomarkers or immunohistology investigated were galectin-3,COX-2,nm-23,microRNA-210,ERBB-2 overexpression and succinate dehydrogenase subunit mutation,which were predictive of malignancy as well as disease prognosis.Curative resection is possible but most metastatic diseases are amenable to radiopharmaceuticals and chemotherapy due to late presentation.Other therapeutic options,like molecular-targeted therapy,are still undergoing clinical trials.
