SILENT extra-adrenal retroperitoneal paragangliomas (PGLs) arise from dispersed paraganglias which tend to be symmetrically distributed in close relation to the aorta and sympatheticnervous system. They are rarely enc...SILENT extra-adrenal retroperitoneal paragangliomas (PGLs) arise from dispersed paraganglias which tend to be symmetrically distributed in close relation to the aorta and sympatheticnervous system. They are rarely encountered in everyday surgical practice.展开更多
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...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.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
BACKGROUND Paragangliomas(PG)are rare neoplasms of neuroendocrine origin that tend to be highly vascularized,slow-growing,and usually sporadic.To date,common treatment options are surgical resection(SR),with or withou...BACKGROUND Paragangliomas(PG)are rare neoplasms of neuroendocrine origin that tend to be highly vascularized,slow-growing,and usually sporadic.To date,common treatment options are surgical resection(SR),with or without radiation therapy(RT),and a watch-and-wait approach.AIM To evaluate the local control and effectiveness of exclusive fractionated stereotactic RT(FSRT)treatment in unresectable PG(uPG).METHODS We retrospectively evaluated patients with uPG(medically inoperable or refused SR)treated with FSRT with a Cyberknife System(Accuray Incorporated,Sunnyvale,California).Toxicity and initial efficacy were evaluated.RESULTS From May 2009 to January 2023,6 patients with a median age of 68(range 20-84)were treated with FSRT.The median delivered dose was 21 Gy(range 20-30 Gy)at a median isodose line of 75.5%(range 70%-76%)in 4 fractions(range 3-5 fractions).The median volume was 13.6 mL(range 12.4-65.24 mL).The median cumulative biological effective dose and equivalent dose in 2-Gy fractions were 70 Gy and 37.10 Gy respectively.Site of origin involved were the timpa-nojugular glomus(4/6),temporal bone,and cervical spine.In 1 of the 6 patients,the follow-up was insufficient;5 of 6 patients showed a 5-year overall survival and 5-year progression-free survival of 100%.We observed negligible toxicities during and after RT.The majority of patients showed stable symptoms during follow-up.Only 1 patient developed spine metastases.CONCLUSION Our preliminary results on this small cohort of patients suggest that FSRT could be an effective and safe alternative to SR.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
BACKGROUND Paragangliomas are rare neuroendocrine tumors.We hereby report a case of a localized paraganglioma found in the abdominal cavity,and review the relevant literature to improve the understanding of this disea...BACKGROUND Paragangliomas are rare neuroendocrine tumors.We hereby report a case of a localized paraganglioma found in the abdominal cavity,and review the relevant literature to improve the understanding of this disease.CASE SUMMARY A 29-year-old Chinese female patient was referred to our hospital due to an abdominal mass found on physical examination.Imaging revealed a mass in the left upper abdomen,suggestive of either a benign stromal tumor or an ectopic accessory spleen.Laparoscopic radical resection was subsequently performed,and histopathological analysis confirmed the diagnosis of a paraganglioma.The patient was followed up 3 months post-operation,and reported good recovery with no metastasis.CONCLUSION Radical resection can effectively treat intra-abdominal paragangliomas,with few side effects and low recurrence risk.In addition,early and accurate diagnosis and timely intervention are essential for the prognosis of this disease.展开更多
Paragangliomas are rare tumors that arise from the sympathetic or the parasympathetic ganglia. Parasympathetic paragangliomas are usually nonfunctional. They are often found in the pre aortic and paravertebral sympath...Paragangliomas are rare tumors that arise from the sympathetic or the parasympathetic ganglia. Parasympathetic paragangliomas are usually nonfunctional. They are often found in the pre aortic and paravertebral sympathetic plexus or at the base of the skull. 80% of these are Glomus jugulare and carotid body paragangliomas. Intrapericardial paragangliomas are exceedingly rare. Less than 2% of paragangliomas are found in the chest and most of them are situated in the posterior mediastinum. As such, there are no clear guidelines on how to treat intrapericardial paragangliomas. We present here the case of a patient with an intrapericardial paraganglioma who was evaluated by cardiology, cardiac surgery, and endocrinology. In this case cardiac surgery opted for a conservative approach and did not offer surgery to the patient. There is some literature supporting a surgical approach but no specific guidelines about this have been written. The patient is currently being monitored since she did not have metastatic disease and her paraganglioma was nonfunctioning. With this case we want to add to the body of evidence that this type of cases does not need an urgent surgical approach.展开更多
Background: Tympanic paragangliomas are common middle ear benign neoplasias that develop from endocrines cells situated along the great blood vessels of the head and neck, as well as those of the thoracic and lumbar s...Background: Tympanic paragangliomas are common middle ear benign neoplasias that develop from endocrines cells situated along the great blood vessels of the head and neck, as well as those of the thoracic and lumbar spine. Primary symptoms of tympanic locations include hearing loss and pulsatile tinnitus. Otoscopy often shows a retrotympanic reddish mass, causing tympanic bulging. Computerized tomography scan findings include a tissue density regular mass located at the promontory and limited within the middle ear cavity. Surgical management comprises tumour excision with control of bleeding, with or without prior embolization. Aim: The aim of this presentation is to report an unusual case of tympanic paraganglioma. Case Presentation: We report the case of a 56-year-old patient whose clinical and paraclinical presentations were consistent with cholesteatoma, though a tympanic paraganglioma was discovered per-operatively. Conclusion: In some rare cases, tympanic paraganglioma can be present like a cholesteatoma.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
文摘SILENT extra-adrenal retroperitoneal paragangliomas (PGLs) arise from dispersed paraganglias which tend to be symmetrically distributed in close relation to the aorta and sympatheticnervous system. They are rarely encountered in everyday surgical practice.
文摘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.
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BACKGROUND Paragangliomas(PG)are rare neoplasms of neuroendocrine origin that tend to be highly vascularized,slow-growing,and usually sporadic.To date,common treatment options are surgical resection(SR),with or without radiation therapy(RT),and a watch-and-wait approach.AIM To evaluate the local control and effectiveness of exclusive fractionated stereotactic RT(FSRT)treatment in unresectable PG(uPG).METHODS We retrospectively evaluated patients with uPG(medically inoperable or refused SR)treated with FSRT with a Cyberknife System(Accuray Incorporated,Sunnyvale,California).Toxicity and initial efficacy were evaluated.RESULTS From May 2009 to January 2023,6 patients with a median age of 68(range 20-84)were treated with FSRT.The median delivered dose was 21 Gy(range 20-30 Gy)at a median isodose line of 75.5%(range 70%-76%)in 4 fractions(range 3-5 fractions).The median volume was 13.6 mL(range 12.4-65.24 mL).The median cumulative biological effective dose and equivalent dose in 2-Gy fractions were 70 Gy and 37.10 Gy respectively.Site of origin involved were the timpa-nojugular glomus(4/6),temporal bone,and cervical spine.In 1 of the 6 patients,the follow-up was insufficient;5 of 6 patients showed a 5-year overall survival and 5-year progression-free survival of 100%.We observed negligible toxicities during and after RT.The majority of patients showed stable symptoms during follow-up.Only 1 patient developed spine metastases.CONCLUSION Our preliminary results on this small cohort of patients suggest that FSRT could be an effective and safe alternative to SR.
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.
基金Supported by Jiaxing Science and Technology Planning Project,No.2020AY30017.
文摘BACKGROUND Paragangliomas are rare neuroendocrine tumors.We hereby report a case of a localized paraganglioma found in the abdominal cavity,and review the relevant literature to improve the understanding of this disease.CASE SUMMARY A 29-year-old Chinese female patient was referred to our hospital due to an abdominal mass found on physical examination.Imaging revealed a mass in the left upper abdomen,suggestive of either a benign stromal tumor or an ectopic accessory spleen.Laparoscopic radical resection was subsequently performed,and histopathological analysis confirmed the diagnosis of a paraganglioma.The patient was followed up 3 months post-operation,and reported good recovery with no metastasis.CONCLUSION Radical resection can effectively treat intra-abdominal paragangliomas,with few side effects and low recurrence risk.In addition,early and accurate diagnosis and timely intervention are essential for the prognosis of this disease.
文摘Paragangliomas are rare tumors that arise from the sympathetic or the parasympathetic ganglia. Parasympathetic paragangliomas are usually nonfunctional. They are often found in the pre aortic and paravertebral sympathetic plexus or at the base of the skull. 80% of these are Glomus jugulare and carotid body paragangliomas. Intrapericardial paragangliomas are exceedingly rare. Less than 2% of paragangliomas are found in the chest and most of them are situated in the posterior mediastinum. As such, there are no clear guidelines on how to treat intrapericardial paragangliomas. We present here the case of a patient with an intrapericardial paraganglioma who was evaluated by cardiology, cardiac surgery, and endocrinology. In this case cardiac surgery opted for a conservative approach and did not offer surgery to the patient. There is some literature supporting a surgical approach but no specific guidelines about this have been written. The patient is currently being monitored since she did not have metastatic disease and her paraganglioma was nonfunctioning. With this case we want to add to the body of evidence that this type of cases does not need an urgent surgical approach.
文摘Background: Tympanic paragangliomas are common middle ear benign neoplasias that develop from endocrines cells situated along the great blood vessels of the head and neck, as well as those of the thoracic and lumbar spine. Primary symptoms of tympanic locations include hearing loss and pulsatile tinnitus. Otoscopy often shows a retrotympanic reddish mass, causing tympanic bulging. Computerized tomography scan findings include a tissue density regular mass located at the promontory and limited within the middle ear cavity. Surgical management comprises tumour excision with control of bleeding, with or without prior embolization. Aim: The aim of this presentation is to report an unusual case of tympanic paraganglioma. Case Presentation: We report the case of a 56-year-old patient whose clinical and paraclinical presentations were consistent with cholesteatoma, though a tympanic paraganglioma was discovered per-operatively. Conclusion: In some rare cases, tympanic paraganglioma can be present like a cholesteatoma.
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。
