Renewal and interpretation of concepts related to paragangliomas and pheochromocytomas according to WHO classification in 2022 / 中华泌尿外科杂志

WHO issued the fifth edition of classification of neuroendocrine neoplasms in 2022. The content of paragangliomas and pheochromocytomas (PPGL) was updated compared with the fourth edition in 2017. In the fifth edition of PPGL classification system, the author redefined the concepts that were vague and unclear in the past, and also put forward some new ideas. On this basis, this article introduces the relevant updates in combination with the current clinical situation in China. The content includes the concept evolution of paragangliomas and pheochromocytomas, accurate interpretation of the definitions of paraganglioid tumor, composite paraganglioma, adrenal medullary hyperplasia, and micro-pheochromocytoma. This article also help readers to understand molecular diagnostic and prognostic markers, the definition and clinical staging of benign and malignant PPGL. The domestic scholars can unify some concepts in PPGL to avoid confusion and facilitate academic exchanges through the discussion of these key concepts.

Succinate dehydrogenase gene mutations and DNA methylation analysis in hereditary pheochromocytoma paraganglioma syndrome / 中华泌尿外科杂志

Objective To detect the genetic mutations of succinate dehydrogenase B (SDHB),SDHC,SDHD,SDHAF2 and RET,VHL in hereditary pheochromocytoma (PHEO) paraganglioma (PGL) syndrome in order to analyze the relationship between the pathogenesis and SDHx mutations and DNA methylation.Methods SDH genes,VHL and RET were analyzed for germline mutations in 97 PHEOs/PGLs patients.Correlations were analyzed between the results and the clinical characteristics including age,tumor localization,multifocality,24 h urine CA,IGF and NSE.Direct DNA sequence analysis was carried out for SDHB (1q36.1-1q35,exons1-8),SDHC (1q21,exons 1-5),SDHD (11q23,exons 1-4),SDHAF2 (11q12.2,exons 1-4),RET (10q11.2,exons10,11,13,14&15,and 16) and VHL (3p25.3,exons 1-3) genes,and promoter region methylation of SDHB was detected in PHEO/PGL peripheral blood samples.Results Germinal mutations were found in 17 patients (17.5％),with 8 cases in RET proto-oncogene (8.2％),7 cases in SDHB genes (7.2％) and 2 cases in VHL gene (2.1％).The comparison of some of the clinical features in two groups (with and without promoter region methylation of SDHB) showed significant differences (P＜0.01).Conclusions Genetic predisposition is frequent in chromaffin tissue tumors,indicating that DNA analysis is necessary.The mutation of SDHB is highly associated with abdominal PGL and the following distant metastasis (malignant PGL).

A New Approach to the Treatment of Metastatic Paraganglioma: Sorafenib / Journal of the Korean Cancer Association, 대한암학회지

Paragangliomas are relatively rare chromaffin cell tumors which may be cured through resection. Patients with paragangliomas may develop metastatic diseases. There is no consensus regarding refractory chemotherapy for treatment of metastatic disease. In this report, we presented a case of a 43-year-old woman who was admitted to the hospital with a history of episodic headaches, diaphoresis, and weakness. Elevated plasma catecholamine levels and a right paraaortic mass were observed on computed tomography. The mass was excised, and a diagnosis of paraganglioma was confirmed. After 20 months of follow-up, local recurrence and metastases were detected in the thorax, abdomen, and skeletal system. Plasma and urinary catecholamine levels were high. Chemotherapy was administered, and no improvement was observed. Therefore, following this palliative conventional chemotherapy, sorafenib was administered for three months, and, finally, positron emission tomography showed that the patient's lesions had completely regressed.

Extra Adrenal Paraganglinoma : A Case Report.

Extra adrenal pheochromocytomas (EAPs) commonly arise in the organ of Zuckerkandl. There presentation symptoms are similar to pheochromocytomas. Biochemical investigation demonstrating elevated blood and urine catecholamines and there metabolites along with imaging studies such as ultrasonography (USG) ,CT, MRI and 131I labeled MIBG (meta-iodobenzylguanidine) scan help in achieving the diagnosis.We present a 35 yr old adult female, who presented with severe headache, abdominal pain and episodes of vomiting , examination revealed a firm to hard retroperitoneal mass right to umbilicus, she was hypertensive and had raised urinary VMA. Clinically an extra adrenal paraganglinoma was suspected . USG abdomen and CT guided FNAC confirmed the diagnosis.Tumor was removed with right mid laparotomy leading to cure of disease.

Fundamentos moleculares de la enfermedad de von Hippel Lindau / Molecular bases of von Hipperl Lindau's disease

La enfermedad de von Hippel Lindau es una rara entidad genética que se caracteriza por la predisposición al cáncer, especialmente angiomas de la retina, hemangioblastomas del sistema nervioso central y carcinoma renal de células claras. Los productos del gen presentan un mecanismo de acción peculiar, pues está relacionado con los procesos de adaptación del organismo a la hipoxia. En este trabajo se presenta una panorámica actualizada de esta enfermedad, con énfasis en los aspectos moleculares

The von Hippel Lindau's disease is uncommon genetic entity characterized by a predisposition to cancer, specially the retina angiomas, hemangioblastomas of central nervous system and the clear cells renal carcinoma. Gene products have a typical action mechanism since it is related to organism adaptation processes to hypoxia. In present paper an updated panorama of this disease emphasizing in molecular processes

Embolização pré operatória no tratamento de paraganglioma abdominal: relato de caso / Pré-operative embolization of abdominal paraganglioma: case report

Paragangliomas is a pheochromocytoma of extra adrenal localization. The case report is a male, 55 years old who presented symptoms of adrenergic hyperstimulation associated to an abdominal mass diagnosed as paraganglioma by a biopsy. Because of its size, localization and vascularization, an aortography with embolization of the nutrient branches of the tumor was done pre-operatively. Four days later, a surgical ressection was performed, and the tumor was adhered to the duodenum, infra-renal aorta and inferior vena cava. We believe that an angiographic study pre-operatively with embolization makes possible an analysis of the anastomosis and arterial supplement, making the ressecability of the tumor safer, although it seems the surgical intervention should have been done earlier.

Diagnosis and treatment of subclinical pheochromocytoma / 基础医学与临床

Objective To analyze the clinical features of patients with subclinical pheochromocytoma(PHEO).Methods Review of clinical features of 22 patients with subclinical PHEO treated in PUMC hospital from 1997 to 2007.Results All patients were asymptomatic.24hr-urinary catecholamine excretion was detected normal in 10 of 22 cases,while increased in the others.Sixteen patients were prepared with ?-receptor blocker before operation.During the operation,BPmax(maximal blood pressure) before tumor resection,BPmin(minimal blood pressure) after resection and ?BP(BPmax-BPmin) were(163?34)/(86?20)mmHg,(105?12)/(61?10)mmHg and(58?37)/(25?21)mmHg,Respectively,in the prepared group.They were(169?36)/(104?20)mmHg,(97?18)/(56?13)mmHg and(71?48)/(48?29)mmHg in the other 6 cases without ?-blocker preparation.DBPmax and ?DBP in the prepared group were significantly lower than the unprepared group.Conclusion Most patients with subclinical PHEO have increased catecholamine secretion.Blood pressure is fluctuant greatly during operation in some patients.Patients should be treated with ?-receptor blocker preoperatively in order to decreasethe operation risk.

Levels and significance of serum angiotensin Ⅱon pheochromocytomas / 肿瘤研究与临床

Objective To explore the levels of serum angiotensin Ⅱand their clinical significance on pheochromocytomas. Methods Fifty-eight patients were randomly divided into three groups: Group Ⅰwith normal blood pressure; Group Ⅱ are essential hypertension; Group Ⅲ are pheochromocytomas. The levels of serum angiotensin Ⅱ (ATⅡ) in each group and at eleven time points: were measured. Results The levels of serum ATⅡ of groupⅡand Ⅲ were significantly higher than those of groupⅠ(P

Anesthetic Management for Bilateral Pheochromocytomas in Multiple Endocrine Neoplasia Type 2a / 대한마취과학회지

Multiple endocrine neoplasis type 2a(MEN 2a) is an inherited syndrome characterized by the occurrence of medullary thyroid carcinoma, parathyroid hyperplasia and adrenal pheochromocytoma. Adrenal Medullary disease varies from hyperplasia to bilateral multiple pheochromocyomas. In anesthetic view, stabillization of severely fluctuating vital signs has become an issue. But fluctutation of vital signs is not always ween especially large pheochromocytoms, and catecholamine releasing activity is higer in right pheochromocytoma than left. It suggests catecholamine releasing activity is affected by the site of pheochromocytoma and size of pheochromocytoma. Surgically, right adrenalectomy is more difficult than left because the vein of right adrenal gland is shorter and larger in diameter than left and it drians into the inferior vena cava directly, but in lfet, it drains into the reneal vein. Pathologically, nonfunctional of hypofunctional pheochromocytomas which have high ratio of inactivating amines. Another factor is the size of pheochromocytomas. Lager sized pheochromocytomas frequently has necrotic, hemorrhagic, cystic and myxomatous areas compared to smaller ones. In conclusion, case of bilateral adrenalectomy, more careful anesthetic management is required in right adrenalectomy and in smaller pheochromocytomas.