scholarly journals Von Hippel-Lindau (vHL) with left adrenal pheochromocytoma

2021 ◽  
Author(s):  
Justin Peacock
Keyword(s):  
Von Hippel Lindau ◽  
Adrenal Pheochromocytoma

scholarly journals Adrenal Cortex-Sparing Surgery for Bilateral Multiple Pheochromocytomas in a Patient with Von Hippel-Lindau Disease

2012 ◽  
Vol 2012 ◽  
pp. 1-5 ◽  
Author(s):  
Tarık Esen ◽  
Ömer Acar ◽  
Ahmet Tefekli ◽  
Ahmet Musaoğlu ◽  
İzzet Rozanes ◽  
...  
Keyword(s):  
Adrenal Cortex ◽  
Adrenocortical Function ◽  
Renal Masses ◽  
Von Hippel Lindau ◽  
Pancreatic Masses ◽  
Adrenal Pheochromocytoma ◽  
Von Hippel Lindau Disease ◽  
Vhl Disease

Pheochromocytomas can be a part of familial neoplastic syndromes, in which case they tend to be multiple and involve both adrenal glands. Therefore, sparing adrenocortical function represents a major concern while dealing with these hereditary lesions. Herein, we describe the clinical characteristics and the management strategy of a patient with von Hippel-Lindau (VHL) disease who had multiple, bilateral pheochromocytomas as well as bilateral renal masses, pancreatic masses, and a paracaval mass. Only a portion of the left adrenal gland has remained in situ after two consecutive open surgeries and a percutaneous radiofrequency ablation which have been performed to treat the various components of this syndrome. No adrenal or extra-adrenal pheochromocytoma recurrences have been detected during a follow-up period of more than 2 years. Pancreatic and adrenal functions were normal throughout the postoperative period and never necessitated any replacement therapy. Adrenal cortex-sparing surgery is a valid option for VHL disease patients who present with synchronous bilateral adrenal pheochromocytomas.

scholarly journals Von Hippel Lindau Disease with Colon Adenocarcinoma, Renal Cell Carcinoma and Adrenal Pheochromocytoma

2013 ◽  
Vol 52 (14) ◽  
pp. 1599-1603 ◽  
Author(s):  
Laura Zinnamosca ◽  
Anastasia Laudisi ◽  
Luigi Petramala ◽  
Cristiano Marinelli ◽  
Mario Roselli ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Colon Adenocarcinoma ◽  
Von Hippel Lindau ◽  
Adrenal Pheochromocytoma ◽  
Von Hippel Lindau Disease

scholarly journals Concurrent Robotic Partial Adrenalectomy and Extra-Adrenal Pheochromocytoma Resection in a Pediatric Patient with Von Hippel-Lindau Disease

2008 ◽  
Vol 22 (7) ◽  
pp. 1501-1504 ◽  
Author(s):  
Craig G. Rogers ◽  
Adam M. Blatt ◽  
George E. Miles ◽  
W. Marston Linehan ◽  
Peter A. Pinto
Keyword(s):  
Pediatric Patient ◽  
Partial Adrenalectomy ◽  
Von Hippel Lindau ◽  
Adrenal Pheochromocytoma ◽  
Von Hippel Lindau Disease

scholarly journals Candidate gene mutation analysis in bilateral adrenal pheochromocytoma and sympathetic paraganglioma

2007 ◽  
Vol 14 (2) ◽  
pp. 453-462 ◽  
Author(s):  
Esther Korpershoek ◽  
Bart-Jeroen Petri ◽  
Francien H van Nederveen ◽  
Winand N M Dinjens ◽  
Albert A Verhofstad ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Mutation Analysis ◽  
Somatic Mutations ◽  
Germline Mutations ◽  
Von Hippel Lindau ◽  
Adrenal Pheochromocytoma ◽  
Von Hippel Lindau Disease ◽  
Testing Algorithms ◽  
Succinate Dehydrogenase Subunit B ◽  
Testing Algorithm

Pheochromocytomas (PCCs) are rare tumors that arise from chromaffin tissue in the adrenal medulla, but can also occur in the abdomen outside the adrenals and are then called sympathetic paragangliomas (sPGLs). According to the literature, between 15 and 25% of apparently sporadic adrenal PCC and sPGL are caused by germline mutations in RET, von Hippel–Lindau disease (VHL), succinate dehydrogenase subunit B (SDHB), or subunit D SDHD. However, few studies have addressed the mutationfrequency of these candidate genes in selected subgroups of PCC andsPGL, such as bilateral adrenal PCC or extra-adrenal sPGL, and none have looked at somatic mutations by analyzing tumor tissue. Therefore, we have investigated the occurrence of germline and somatic mutations in RET, VHL, SDHB, and SDHD in comparatively large series of bilateral adrenal PCC (n = 33 patients) and sPGL (n = 26 patients), with the aim of determining the mutation frequency of each of these genes and to establish a genetic testing algorithm. Twenty-one RET, two VHL germline, and one SDHD mutations were found in the patients with bilateral adrenal PCC. In sPGL, one novel SDHB germline and one novel SDHB somatic mutation were observed. In addition, two SDHD germline mutations were found. We conclude that germline RET mutations are predominantly found in bilateral PCC, and that somatic and germline SDHB and SDHD mutations usually occur in sPGL, which has practical consequences for genetic testing algorithms. We suggest that sequential mutation analysis should be directed first at RET, followed by VHL and SDHD for patients with bilateral adrenal PCC at diagnosis, and at SDHB and SDHD for patients with sPGL.

scholarly journals Functioning Thoracic Paraganglioma: Association with Von Hippel-Lindau Syndrome*

1997 ◽  
Vol 82 (10) ◽  
pp. 3356-3360
Author(s):  
Bernhard U. Bender ◽  
Carsten Altehöfer ◽  
Andrzej Januszewicz ◽  
Roland Gärtner ◽  
Heinrich Schmidt ◽  
...  
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Germline Mutations ◽  
Von Hippel Lindau ◽  
Men 2 ◽  
Associated Lesions ◽  
Adrenal Pheochromocytoma ◽  
Von Hippel Lindau Disease ◽  
Von Hippel Lindau Syndrome

Abstract Functioning thoracic paraganglioma (pheochromocytoma) is unusual and therefore suggestive of a pathogenesis distinct from that of sporadic adrenal pheochromocytoma. To determine whether the pheochromocytoma-associated syndromes Von Hippel-Lindau disease (VHL) and multiple endocrine neoplasia type 2 (MEN 2) play a role in the development of thoracic functioning paragangliomas, germline DNA from five unselected patients with this rare tumor was analyzed for mutations in the genes that predispose to VHL and MEN 2. Genetic investigations and further clinical data revealed that three had VHL, with two different germline mutations of the vhl gene, but no individual was affected by MEN 2. Two of the three patients with VHL did not show any additional VHL-associated lesions. This result suggests that VHL should be considered in the differential diagnosis of thoracic pheochromocytoma, as such a diagnosis carries further important implications for the patient and family. Conversely, in patients suspected of a catecholamine-secreting tumor and known VHL, thoracic localization should be considered if an adrenal pheochromocytoma cannot be detected.

scholarly journals The role of 6-[18F]fluorodopamine positron emission tomography in the localization of adrenal pheochromocytoma associated with von Hippel–Lindau syndrome

2007 ◽  
Vol 156 (4) ◽  
pp. 483-487 ◽  
Author(s):  
Priya Kaji ◽  
Jorge A Carrasquillo ◽  
W Marston Linehan ◽  
Clara C Chen ◽  
Graeme Eisenhofer ◽  
...  
Keyword(s):  
Positron Emission Tomography ◽  
Imaging Modality ◽  
High Sensitivity ◽  
Emission Tomography ◽  
Mibg Scintigraphy ◽  
Von Hippel Lindau ◽  
Negative Results ◽  
Positron Emission ◽  
Adrenal Pheochromocytoma ◽  
Magnetic Resonance Imaging Mri

Objective: [123/131I]metaiodobenzylguanidine (MIBG) scintigraphy is considered as the gold standard in the localization of pheochromocytoma. However, this method has less optimal sensitivity for the detection of pheochromocytoma associated with von Hippel–Lindau (VHL). Our preliminary results suggest that this is partially due to the low expression of cell membrane norepinephrine transporter system in VHL-related pheochromocytoma cells. Another probable cause may be the low affinity that [123/131I]MIBG has for these cells. Recently, 6-[18F]fluorodopamine ([18F]DA) positron emission tomography (PET) has been introduced as a novel functional imaging modality with high sensitivity for pheochromocytoma. Therefore, we investigated whether [18F]DA PET is more effective than [123/131I]MIBG scintigraphy in the diagnostic localization of VHL-related adrenal pheochromocytoma. Materials and methods: In this study, we evaluated seven VHL patients in whom adrenal pheochromocytomas were confirmed by histopathology results. Adrenal pheochromocytomas were localized using computed tomography (CT), magnetic resonance imaging (MRI), [123/131I]MIBG scintigraphy and [18F]DA PET. Results: [18F]DA PET localized pheochromocytoma in all the seven patients, as did in CT. In contrast, three out of the seven had negative results utilizing [123/131I]MIBG scintigraphy and one out of the six patients had negative MRI results. Conclusions: [18F]DA PET was found to show more promising results when compared with [123/131I]MIBG scintigraphy in the diagnostic localization of VHL-related adrenal pheochromocytoma, with a 100% rate of localization. Thus, [18F]DA PET in conjunction with CT/MRI should be considered as an effective method for the proper localization of VHL-related adrenal pheochromocytoma.

scholarly journals Pheochromocytoma in von Hippel-Lindau disease

2003 ◽  
Vol 11 (4) ◽  
pp. 269-272
Author(s):  
Milan Petakov ◽  
Marina Djurovic ◽  
Dragana Miljic ◽  
Sandra Obradovic ◽  
Mirjana Doknic ◽  
...  
Keyword(s):  
Histopathological Examination ◽  
Left Kidney ◽  
The Body ◽  
Single Strand Conformational Polymorphism ◽  
Von Hippel Lindau ◽  
Adrenal Pheochromocytoma ◽  
Von Hippel Lindau Disease ◽  
Pre Treatment ◽  
The Right

A 70-year old female was admitted to the hospital because of hypertension increased sweating and weight loss. The hypertension was sustained. Five months before admission CT scan of the abdomen had revealed a well-defined right adrenal mass together with left kidney tumor. A magnetic resonance imaging of the abdomen confirmed the presence of the right adrenal and left kidney masses, but also showed another tumor in the pancreas between the body and the tail. Urinary 24-hour noradrenaline was grossly elevated and confirmed the diagnosis of pheochromocytoma. 131I-metaiodobenzylgvanidine (MIBG) scintiscan showed increased MIBG uptake in the right adrenal gland. After pre-treatment with phenoxybenzamine 30 mg daily, the patient was operated, and the right adrenalectomy was done. Histopathological examination revealed encapsulated adrenal pheochromocytoma without infiltrative characteristics and lymph node metastasis. After the operation hypertension was controlled easily with amlodipine. The patient was discharged for recovery. Ulteriorly, SSCP (single strand conformational polymorphism) method detected a point mutation in the third exon of the VHL (von Hippel-Linday) gene. It was decided to follow up the patient with the von Hippel-Lindau disease, while waiting for the results of the sequence analysis to confirm that the found mutation is not associated with renal cancer.

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