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C634Y mutation in RET-induced multiple endocrine neoplasia type 2A:A case report

World Journal of Clinical Cases 2024年第15期12卷 2627-2635页

作者： Hui-Fen Zhang Shu-Ling Huang Wen-Li Wang Yu-Qing Zhou Jun Jiang Zhuo-Jin Dai Department of Endocrinology Dongguan Hospital of Guangzhou University of Chinese MedicineDongguan 523003Guangdong ProvinceChina Department of Science and Technology Services Beijing Macro and Micro Test Co.Ltd.Beijing 100318China The First Clinical Medical College Guangdong Medical UniversityZhanjiang 524023Guangdong ProvinceChina

BACKGROUND Multiple endocrine neoplasia type 2(MEN2)is a rare,autosomal dominant endocrine disease.Currently,the RET proto-oncogene is the only gene implicated in MEN2A pathogenesis.Once an RET carrier is detected,family members should be screened to enable early detection of medullary thyroid carcinoma,pheochromocytoma,and hyperparatitity.Among these,medullary thyroid carcinoma is the main factor responsible for patient mortality.Accordingly,delineating strategies to inform clinical follow-up and treatment plans based on genes is paramount for clinical practitioners.CASE SUMMARY Herein,we present RET proto-oncogene mutations,clinical characteristics,and treatment strategies in a family with MEN2A.A family study was conducted on patients diagnosed with MEN2A.DNA was extracted from the peripheral blood of family members,and first-generation exon sequencing of the RET protooncogene was conducted.The C634Y mutation was identified in three family members spanning three generations.Two patients were sequentially diagnosed with pheochromocytomas and bilateral medullary thyroid carcinomas.A 9-yearold child harboring the gene mutation was diagnosed with medullary thyroid carcinoma.Surgical resection of the tumors was performed.All family members were advised to undergo complete genetic testing related to the C634Y mutation,and the corresponding treatments administered based on test results and associated clinical guidelines.CONCLUSION Advancements in MEN2A research are important for familial management,assessment of medullary thyroid cancer invasive risk,and deciding surgical timing.

关键词： Multiple endocrine neoplasia type 2A Mutation RET proto-oncogene Medullary thyroid carcinoma pheochromocytoma Case report

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Subclinical paraganglioma of the retroperitoneum:A case report

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World Journal of Clinical Cases 2024年第15期12卷 2672-2677页

作者： Li-Min Kang Fa-Kun Yu Fu-Wei Zhang Lei Xu Department of Hepatobiliary and Pancreatic Surgery Puer People's HospitalPuer 665000Yunnan ProvinceChina

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.

关键词： Paraganglioma Retroperitoneal anatomy Subclinical pheochromocytoma Laparoscopy Case report

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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 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.

关键词： Diagnosis Epithelial-mesenchymal transition(EMT) Immunity Metastasis Paraganglioma pheochromocytoma

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Overview of Adrenals Tumors in Dakar Hospitals

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Open Journal of Internal Medicine 2024年第2期14卷 141-150页

作者： Nafy Ndiaye Yakham Mohamed Leye Mouhamadou Moustapha Ndong Ngoné Diaba Diack Amadou Fall Cisse Abdoulaye Leye Baidy Sy Kane Alpha Omar Touré Cherif Mohamed Dial Pape Saloum Diop Internalmedeccine and Endocrinology Department Teaching Hospital of Pikine Dakar Senegal General Surgery Department Aristide Le Dantec Teaching Hospital of Dakar Dakar Senegal Anatomo-Pathology Department General Hospital of Grand Yoff Dakar Dakar Senegal General Surgery Department General Hospital of Grand Yoff Dakar Dakar Senegal

Introduction: Adrenal tumours (AT) are commonly encountered in clinical practice. For any patient presenting an adrenal mass, there are two crucial points to consider: is the adrenal mass malignant and is it hormonally active? The objective of our study was to evaluate the epidemiological, diagnostic, therapeutic, and evolutionary aspects of AT in a developing country. Methodology: We conducted a retrospective study spanning 17 years (from January 2005 to October 2022) in four Dakar hospital services. We included all patient medical records with explored AT. Results: AT was diagnosed in 35 patients who had a mean age of 36.62 years (range: 12-79), and a female predominance (26 women to 9 men). Among these patients, 17.2 % had incidental AT. Hypertension was the commonest presenting symptom in 27 patients (77%), which was associated with Mnards triad in 14 patients (40%). Abdominal pain was reported by 20 patients (57%), and 14 presented with an abdominal mass. Among the patients, 29 had functional AT: 22 with pheochromocytoma, 5 with primary hyperaldosteronism, and 2 with hypercortisolism. Imaging evaluations revealed that 33 patients had unilateral AT and one had bilateral AT. Tumour sizes varied, 5 patients had tumours 10 cm. Two patients presented with metastases. The therapeutic approach involved adrenalectomy in 32 patients. Perioperative complications were observed in five patients, including haemorrhage (two patients), hypotension (two cases), and hypertensive crisis (one case). One patient with bilateral pheochromocytoma developed acute adrenal insufficiency postoperatively, followed by abdominal herniation. Histopathological examination confirmed pheochromocytoma in 21 patients, Conns adenoma in 5, adrenocortical carcinoma in 3, cortisol adenoma in 2, and adrenal cyst in 1 patient. Non-functional AT included adrenocortical carcinoma (three patients), adrenal cyst (one patient), and pheochromocytoma (two patients). After a one-year follow-up, 29 patients with benign tumours had favourable outcomes, while

关键词： Tumour Adrenal pheochromocytoma Conn Adrenocortical Carcinoma Dakar

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Tumor-to-tumor metastasis of clear cell renal cell carcinoma to contralateral synchronous pheochromocytoma:A case report

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World Journal of Clinical Cases 2022年第19期10卷 6750-6758页

作者： Hsin-Yu Wen Jing Hou Hao Zeng Qiao Zhou Ni Chen Department of Pathology State Key Laboratory of BiotherapyWest China HospitalSichuan UniversityChengdu 610041Sichuan ProvinceChina Department of Urology West China Hospital of Sichuan UniversityChengdu 610041Sichuan ProvinceChina

BACKGROUND Tumor-to-tumor metastasis(TTM)is an uncommon condition.Only a few cases of renal cell carcinoma(RCC)as donor tumor of TTM have been reported in literature,and none of these studies have described RCC metastasizing to synchronous pheochromocytoma(PCC).CASE SUMMARY The patient was a 54-year-old woman who presented with recurrent dull abdominal pain for six months,which was further aggravated for one more month.Enhanced computed tomography revealed a tumor mass in the right kidney and another mass in the left retroperitoneum/adrenal gland.Histopathology and immunochemistry of resected specimens confirmed the diagnosis of clear cell renal cell carcinoma(CCRCC)of the right kidney,and the left retroperitoneum revealed a typical PCC with CCRCC metastasis.Whole exome sequencing revealed the presence of a c.529A>T somatic mutation of the Von Hippel Lindau(VHL)gene in the metastasized CCRCC,which was also present in the primary right kidney CCRCC,as confirmed by Sanger sequencing.No VHL mutation was detected in the PCC or in normal right kidney tissue.Fluorescence in situ hybridization revealed loss of chromosome 3p in both the primary right kidney CCRCC and CCRCC metastasized to PCC in the left kidney.CONCLUSION This is the first case showing metastasis of CCRCC to PCC,thus leading to tumorto-tumor metastasis.

关键词： Tumor-to-tumor metastasis Clear cell renal cell carcinoma pheochromocytoma Von Hippel Lindau somatic mutation Case report

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Surgical treatment of large pheochromocytoma(>6 cm):A 10-year single-center experience

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Asian Journal of Urology 2022年第3期9卷 294-300页

作者： Liang Zhang Danlei Chen Yingxian Pang Xiao Guan Xiaowen Xu Cikui Wang Qiao Xiao Longfei Liu Department of Urology Xiangya HospitalCentral South UniversityChangshaChina National Clinical Research Center for Geriatric Disorders Xiangya HospitalCentral South UniversityChangshaChina

Objective:Clinical practice guidelines recommend open adrenalectomy(OA)for large pheochromocytoma(LPCC)>6 cm in size.Although laparoscopic adrenalectomy(LA)for the treatment of LPCC has been reported,its role remains unclear.This study aimed to compare the effectiveness of LA and OA,and summary the surgical treatment experience.Methods:Data concerning LPCC,from January 2010 to June 2019 of a single institution,were retrospectively reviewed.Altogether 82 patients with a tumor larger than 6 cm were included(52 patients in LA group and 30 patients in OA group).Groups were balanced by propensity score matching(PSM)into 15 pairs.Patients’demographics,preoperative characteristics,and prognosis were analyzed.Results:Before PSM,the OA group had larger tumor sizes(median[interquartile range,IQR]:8.9[7.3-10.3]vs.7.2[6.7-8.0]cm;p=0.000)and higher vanillylmandelic acid level(median[IQR]:114.3[67.8-326.4]vs.66.6[37.8-145.8]μmol/24 h;p=0.004)and needed a higher cumulative dose of prazosin(median[IQR]:83.5[37.0-154.0]vs.38.0[21.0-81.0]mg;p=0.028).After PSM,the baseline data showed no significant differences between both groups.The LA group had relatively more stable blood pressure in surgery,with a lower fluctuation of systolic blood pressure(mean±standard deviation[SD]:70.9±25.1 vs.107.4±46.2 mmHg,p=0.012)and a lower percentage of hemodynamic instability(46.7%vs.86.7%,p=0.020).The LA group had shorter postoperative hospital stays(mean±SD:6.4±2.7 vs.10.1±3.4 days;p=0.003)than the OA group.Differences regarding metastasis rate(6.7%vs.0,p=1.000)were not statistically significant between LA and OA groups.The median(IQR)follow-up time of 82 patients was 72.5(47.0-103.5)months.Binary logistic regression showed that right-side tumors or those>8 cm in size were independent risk factors of OA.Conclusion:LA is a safe,minimally invasive procedure for LPCC and has relatively better perioperative characteristics in large medical centers.Patients with tumors on the right side or larger than 8 cm are more likely to undergo OA initially.

关键词： pheochromocytoma Laparoscopic adrenalectomy Open adrenalectomy Surgery Treatment

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pheochromocytoma with delayed tumor thrombus detection in renal vein: A case report

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World Journal of Clinical Cases 2020年第13期8卷 2849-2854页

作者： Zhuo Jia Bao-Jun Wang Xing Li Xu Zhang Department of Urology/State Key Laboratory of Kidney Diseases Chinese PLA General Hospital/PLA Medical SchoolBeijing 100853China

BACKGROUND pheochromocytomas with inferior vena cava(IVC)or renal vein tumor thrombus are rare.Surgical management is the first choice.CASE SUMMARY We presented a 42-year-old man with adrenal pheochromocytoma and delayed tumor thrombus detection in the renal vein at the entrance of the IVC three months after adrenalectomy.We performed laparoscopic adrenalectomy during the first surgery and robot-assisted laparoscopic nephrectomy and resection of tumor thrombus during the second surgery.CONCLUSION We report the surgical management of a patient with adrenal pheochromocytoma with tumor thrombus at the entrance of the IVC.Robot-assisted laparoscopic surgery is safe and efficient.

关键词： pheochromocytoma Tumor thrombus Robot-assisted laparoscopic surgery Case report Renal Magnetic resonance imaging

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pheochromocytoma in a 49-year-old woman presenting with acute myocardial infarction:A case report

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World Journal of Clinical Cases 2021年第15期9卷 3752-3757页

作者： Hao-Yu Wu Yi-Wei Cao Tian-Jiao Gao Jian-Li Fu Lei Liang Department of Cardiology Shaanxi Provincial People’s HospitalXi'an 710068Shaanxi ProvinceChina Department of Electrocardiology Shaanxi Provincial People’s HospitalXi'an 710068Shaanxi ProvinceChina Department of Gastroenterology Xi’an Children’s HospitalXi'an 710068Shaanxi ProvinceChina Ultrasonic Diagnosis Center Shaanxi Provincial People’s HospitalXi’an 710068Shaanxi ProvinceChina

BACKGROUND pheochromocytoma is a rare endocrine tumor arising from chromaffin cells and having extensive and profound effects on the cardiovascular system by continuously or intermittently releasing catecholamines.The clinical manifestations of pheochromocytoma are diverse,and the typical triad,including episodic headache,palpitations,and sweating,only occurs in 24%of pheochromocytoma patients,which often misleads clinicians into making an incorrect diagnosis.We herein report the case of a patient with intermittent chest pain and elevated myocardial enzymes for 2 years who was diagnosed with pheochromocytoma.CASE SUMMARY A 49-year-old woman presented with intermittent chest pain for 2 years.Two years ago,the patient experienced chest pain and was diagnosed with acute myocardial infarction,with 25%stenosis in the left circumflex.The patient still had intermittent chest pain after discharge.Two hours before admission to our hospital,the patient experienced chest pain with nausea and vomiting,lasting for 20 min.Troponin I and urinary norepinephrine and catecholamine levels were elevated.An electrocardiogram indicated QT prolongation and ST-segment depression in leads II,III,aVF,and V3-V6.A coronary computed tomography angiogram revealed no evidence of coronary artery disease.Echocardiography showed left ventricular enlargement and a decreased posterior inferior wall motion amplitude.Contrast-enhanced computed tomography demonstrated an inhomogeneous right adrenal mass.The patient successfully underwent laparoscopic right adrenalectomy,and histopathology confirmed adrenal pheochromocytoma.During the first-year follow-up visits,the patient was asymptomatic.The abnormal changes on echocardiography and electro-cardiogram disappeared.CONCLUSION Clinicians should be aware of pheochromocytoma.A timely and accurate diagnosis of pheochromocytoma is essential for alleviating serious cardiac complications.

关键词： pheochromocytoma Catecholamine Cardiac complications Acute myocardial infarction Chest pain Case report

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pheochromocytoma as a cause of repeated acute myocardial infarctions,heart failure,and transient erythrocytosis:A case report and review of the literature

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World Journal of Clinical Cases 2021年第4期9卷 951-959页

作者： Fei Shi Li-Xian Sun Sen Long Ying Zhang Department of Cardiology Affiliated Hospital of Chengde Medical UniversityChengde 067000Hebei ProvinceChina Department of Traditional Chinese Medicine Affiliated Hospital of Chengde Medical UniversityChengde 067000Hebei ProvinceChina

BACKGROUND pheochromocytoma is a rare catecholamines-secreting tumor arising from chromaffin cells in the adrenal medulla.It classically presents with paroxysmal hypertension,headaches,palpitations,sweating,and metabolic disorders.Atypical presentations such as acute myocardial infarction,heart failure,cardiomyopathy,stroke,and transient erythrocytosis have been infrequently documented.CASE SUMMARY We describe the case of a 72-year-old man diagnosed with pheochromocytoma presenting with non-ST segment elevation myocardial infarction,heart failure,and transient erythrocytosis with nonobstructed coronary arteries.This was his second heart attack.The patient was previously diagnosed with myocardial infarction,and an immense mass was found on the left adrenal gland 3 years prior.Based on clinical and laboratory findings,a diagnosis of pheochromocytoma was confirmed.His coronary angiogram showed nonobstructed coronary arteries except for a myocardial bridge in the left anterior descending branch.This was a form of type-2 myocardial infarction.The myocardial cell lesions were caused by sudden secretion of catecholamines by the pheochromocytoma.Even more atypically,his hemoglobin level was obviously elevated at admission,but after a few days of treatment with an alpha-adrenergic receptor blocker,it dropped to normal levels without additional treatment.CONCLUSION pheochromocytoma may be a cause of acute myocardial infarction,heart failure,and transient erythrocytosis.

关键词： pheochromocytoma Myocardial infarction Heart failure Cardiomyopathy Erythrocytosis Case report

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pheochromocytoma Characterizing Both Fever and Acute Renal Failure

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Chinese Medical Journal 2017年第5期130卷 617-618页

作者： Yan-Sheng Jin Mao-Xiao Fan Department of Nephrology Suzhou Wuzhong People's Hospital Suzhou Jiangsu 215128 China

INTRODUCTION pheochromocytoma is a rare catecholamine-producing tumor with the primary presentations, both of intermittent fever and nonoliguric acute renal failure. Only several articles were retrieved with the rare ... 详细信息

关键词： Fever Nonoliguric Acute Renal Failure pheochromocytoma

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