Other search tools

About this data

The publication data currently available has been vetted by Vanderbilt faculty, staff, administrators and trainees. The data itself is retrieved directly from NCBI's PubMed and is automatically updated on a weekly basis to ensure accuracy and completeness.

If you have any questions or comments, please contact us.

Results: 1 to 10 of 10

Publication Record

Connections

Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma.
Fishbein L, Leshchiner I, Walter V, Danilova L, Robertson AG, Johnson AR, Lichtenberg TM, Murray BA, Ghayee HK, Else T, Ling S, Jefferys SR, de Cubas AA, Wenz B, Korpershoek E, Amelio AL, Makowski L, Rathmell WK, Gimenez-Roqueplo AP, Giordano TJ, Asa SL, Tischler AS, Cancer Genome Atlas Research Network, Pacak K, Nathanson KL, Wilkerson MD
(2017) Cancer Cell 31: 181-193
MeSH Terms: Adult, Aged, Aged, 80 and over, DNA-Binding Proteins, Female, Gene Fusion, Humans, Male, Middle Aged, Mutation, Nuclear Proteins, Paraganglioma, Pheochromocytoma, Pol1 Transcription Initiation Complex Proteins, Proto-Oncogene Proteins c-ret, RNA-Binding Proteins, Transcription Factors
Show Abstract · Added October 30, 2019
We report a comprehensive molecular characterization of pheochromocytomas and paragangliomas (PCCs/PGLs), a rare tumor type. Multi-platform integration revealed that PCCs/PGLs are driven by diverse alterations affecting multiple genes and pathways. Pathogenic germline mutations occurred in eight PCC/PGL susceptibility genes. We identified CSDE1 as a somatically mutated driver gene, complementing four known drivers (HRAS, RET, EPAS1, and NF1). We also discovered fusion genes in PCCs/PGLs, involving MAML3, BRAF, NGFR, and NF1. Integrated analysis classified PCCs/PGLs into four molecularly defined groups: a kinase signaling subtype, a pseudohypoxia subtype, a Wnt-altered subtype, driven by MAML3 and CSDE1, and a cortical admixture subtype. Correlates of metastatic PCCs/PGLs included the MAML3 fusion gene. This integrated molecular characterization provides a comprehensive foundation for developing PCC/PGL precision medicine.
Copyright © 2017 Elsevier Inc. All rights reserved.
0 Communities
1 Members
0 Resources
MeSH Terms
Checklists, protocols, and the "gold standard" approach.
Washington MK, Baker TP, Simpson J
(2014) Arch Pathol Lab Med 138: 159-60
MeSH Terms: Adrenal Gland Neoplasms, Humans, Paraganglioma, Extra-Adrenal, Pathology, Clinical, Pheochromocytoma, Practice Guidelines as Topic
Added April 12, 2016
0 Communities
1 Members
0 Resources
6 MeSH Terms
Tumors of the cervical sympathetic chain--diagnosis and management.
Langerman A, Rangarajan SV, Athavale SM, Pham MQ, Sinard RJ, Netterville JL
(2013) Head Neck 35: 930-3
MeSH Terms: Diagnosis, Differential, Head and Neck Neoplasms, Humans, Neurilemmoma, Neurofibroma, Paraganglioma, Peripheral Nervous System Neoplasms, Retrospective Studies, Tomography, X-Ray Computed
Show Abstract · Added March 7, 2014
BACKGROUND - Tumors originating from the cervical sympathetic chain are uncommon but important entities in the differential diagnosis of parapharyngeal space masses.
METHODS - We conducted a retrospective review of patients presenting with tumors of the cervical sympathetic chain.
RESULTS - Twenty-four patients presented between 1994 and 2010. Presenting symptoms were dysphagia (n = 7.29%), neck mass (n = 7.29%), throat fullness (n = 4.17%), and Horner syndrome (n = 2.8%). Although radiologic images showed classic lateral displacement of the carotid arteries in 10 patients (42%), in 9 patients (38%) the radiologic findings demonstrated splaying of the carotid arteries similar to carotid body tumor, and in 5 patients (20%), the findings were indeterminate. Twenty-one patients underwent surgical removal of the tumors with pathology revealing 10 paragangliomas, 10 schwannomas, and 1 neurofibroma. Horner (57%) and first-bite (33%) syndromes were the most common complications.
CONCLUSIONS - Although anterolateral displacement of the carotids is suggestive of a sympathetic tumor, absence of these findings does not rule out this entity. To this end, we have included in this review a guide to preoperative radiologic diagnosis of parapharyngeal space lesions.
Copyright © 2012 Wiley Periodicals, Inc.
0 Communities
1 Members
0 Resources
9 MeSH Terms
Loss of heterozygosity of succinate dehydrogenase B mutation by direct sequencing in synchronous paragangliomas.
Prasad P, Kant JA, Wills M, O'Leary M, Lovvorn H, Yang E
(2009) Cancer Genet Cytogenet 192: 82-5
MeSH Terms: Adolescent, Base Sequence, DNA Mutational Analysis, Exons, Humans, Loss of Heterozygosity, Male, Molecular Sequence Data, Mutation, Neoplasms, Multiple Primary, Paraganglioma, Extra-Adrenal, Succinate Dehydrogenase, Tomography, X-Ray Computed
Show Abstract · Added January 28, 2014
Extraadrenal pheochromocytomas and paragangliomas are rare entities within the pediatric population. We report the presentation of three synchronous extra-adrenal abdominal paragangliomas in an adolescent boy who carries a germline mutation in the succinate dehydrogenase B (SDHB) gene. Loss of heterozygosity of this allele was demonstrated by direct sequencing of DNA from two of his tumors, confirming loss of tumor suppressor function in the pathogenesis of these paragangliomas.
0 Communities
1 Members
0 Resources
13 MeSH Terms
Paragangliomas: etiology, presentation, and management.
Joynt KE, Moslehi JJ, Baughman KL
(2009) Cardiol Rev 17: 159-64
MeSH Terms: Adrenal Gland Neoplasms, Humans, Paraganglioma, Extra-Adrenal, Pheochromocytoma
Show Abstract · Added March 4, 2015
Paragangliomas are catecholamine-secreting tumors arising from the chromaffin cells of the sympathetic ganglia, and are known as extra-adrenal pheochromocytomas. These tumors commonly present with episodic hypertension, tachycardia, headache, and diaphoresis, and can be either benign or malignant. Diagnosis is made by serum and urine analysis for catecholamines and metanephrines, and confirmed with imaging studies including computed tomography scanning, magnetic resonance imaging, or 123-I metaiodobenzylguanidine imaging. Although the majority of paragangliomas are sporadic, a growing percentage of cases are found to be part of a familial genetic syndrome. Genetic testing should be offered to patients diagnosed with paraganglioma, particularly in patients who are young, have multiple tumors, or have a family history of malignancy. Management of paraganglioma is predicated on surgical resection, and careful perioperative management with alpha- and beta-adrenergic blockade is imperative for optimal outcomes. The majority of these tumors are benign, but for patients with malignant disease, chemotherapy, and radiation therapy may provide modest benefit. Long-term follow-up is essential, as paragangliomas can recur many years after initial diagnosis. Ongoing research into the genetic underpinnings of this tumor may allow for more targeted molecular therapies in the future.
0 Communities
1 Members
0 Resources
4 MeSH Terms
Outcomes of pheochromocytoma management in the laparoscopic era.
Solorzano CC, Lew JI, Wilhelm SM, Sumner W, Huang W, Wu W, Montano R, Sleeman D, Prinz RA
(2007) Ann Surg Oncol 14: 3004-10
MeSH Terms: 3-Iodobenzylguanidine, Adolescent, Adrenal Gland Neoplasms, Adrenalectomy, Adult, Aged, Aged, 80 and over, Child, Diagnosis, Differential, Female, Follow-Up Studies, Humans, Laparoscopy, Magnetic Resonance Imaging, Male, Middle Aged, Neoplasm Recurrence, Local, Paraganglioma, Pheochromocytoma, Retrospective Studies, Tomography, X-Ray Computed
Show Abstract · Added March 5, 2014
BACKGROUND - Laparoscopic adrenalectomy (LA) is the preferred surgical approach for pheochromocytomas. We have investigated the changes in diagnosis, management and outcome of pheochromocytomas treated since the widespread advent of LA.
METHODS - Data were collected retrospectively from 96 patients with pheochromocytomas that had been surgically treated at three tertiary referral centers.
RESULTS - There were 53 females. Mean age was 47 years (10-81). Tumors were found incidentally in 40% of patients. Of the 96 patients, 12 (13%) had familial syndromes. CT or MRI localized the adrenal lesion in all patients. MIBG scans obtained from 32 patients were concordant with the CT/MRI in 19, were false negative in 9 and misleading in 1, and altered management in only 3 patients. Mean tumor size was 5.6 cm (1.8-17). There were 92 adrenal pheochromocytomas and 9 paragangliomas. Laparoscopy was successful in 67 of 74 (91%) patients, with 20 of 67 (30%) having tumors of 6 cm or greater in size. Conversions to open procedures were performed in patients with 4 left, 2 right pheochromocytomas and 1 paraganglioma. Of the patients, 22 had an open procedure due to suspicion of malignancy or large tumors. Malignancy was observed in 4 of 92 (4.3%) pheochromocytomas and 4 of 9 (44%) paragangliomas. Average follow-up was 22 months (1-122). There were seven recurrences. Postoperative biochemical tests available in 64 patients were normal in 90%.
CONCLUSIONS - The diagnosis of pheochromocytoma was made incidentally in 40% of patients. MIBG is not necessary for unilateral non-hereditary pheochromocytomas localized by CT/MRI. LA is possible with excellent results in most patients, including for treatment of lesions 6 cm or greater in size with no signs of invasion. Laparoscopy should be used cautiously for paragangliomas because of a high rate of malignancy.
0 Communities
1 Members
0 Resources
21 MeSH Terms
Surgical management of parapharyngeal space masses.
Cohen SM, Burkey BB, Netterville JL
(2005) Head Neck 27: 669-75
MeSH Terms: Adolescent, Adult, Aged, Child, Child, Preschool, Female, Humans, Infant, Lymph Node Excision, Male, Middle Aged, Neoplasm Recurrence, Local, Neoplasms, Vascular Tissue, Paraganglioma, Pharyngeal Neoplasms, Retrospective Studies, Salivary Gland Neoplasms, Skull Base Neoplasms, Treatment Outcome
Show Abstract · Added March 5, 2014
BACKGROUND - We sought to examine surgical techniques used to remove parapharyngeal space (PPS) masses.
METHODS - This retrospective search was conducted from 1980 to 2003. Age, sex, diagnosis, surgical approach, complications, and outcome were collected.
RESULTS - One hundred sixty-six PPS masses were identified: 21 (12.7%) were malignant, 145 (87.3%) were benign, 76 (45.8%) were vascular, and 69 (41.6 %) involved the skull base. Transcervical techniques were used in all cases. Removing the styloid and its musculature and level II lymphadenectomies enhanced exposure for vascular and skull base tumors. Thirty transcervical-transmastoid dissections (20.4%) facilitated removal of vascular skull base tumors. To identify the facial nerve, 20 transparotid-transcervical approaches (13.6%) were performed. Three mandibulotomies (2.0%) were required for internal carotid artery involvement. Expected neurologic sequelae resulted from cranial nerve involvement by tumor. Three patients (2.0%), all presenting with recurrent cancer, had local recurrences.
CONCLUSION - Careful patient assessment and surgical techniques allow the oncologically safe removal of benign, vascular, and skull base PPS tumors.
Copyright 2005 Wiley Periodicals, Inc.
0 Communities
1 Members
0 Resources
19 MeSH Terms
Paragangliomas of the head and neck.
Pellitteri PK, Rinaldo A, Myssiorek D, Gary Jackson C, Bradley PJ, Devaney KO, Shaha AR, Netterville JL, Manni JJ, Ferlito A
(2004) Oral Oncol 40: 563-75
MeSH Terms: Carotid Body Tumor, Ear Neoplasms, Family Health, Female, Head and Neck Neoplasms, Humans, Male, Paraganglioma, Radiography, Thyroid Neoplasms, Treatment Outcome, Tympanic Membrane
Show Abstract · Added March 5, 2014
Paragangliomas are neuroendocrine tumors derived from the extra-adrenal paraganglia of the autonomic nervous system. Within the head and neck, they are generally defined and named according to their site of origin, and may be found frequently neighboring vascular structures. Physiologic activity is rare in these neoplasms and they may exhibit patterns of inheritance which predispose their occurrence in families, often with multicentricity. These tumors generally exhibit a slow rate of growth, most often presenting asymptomatically as a space occupying mass lesion noted clinically or radiographically. The most common paraganglioma of the head and neck is the carotid body tumor followed by the jugulo-tympanic and vagal varieties. Other rare sites where this tumor may occur include; the larynx, sinonasal chambers and orbit. Diagnosis is generally made through a combination of clinical findings and radiographic studies. Magnetic resonance represents the most important imaging modality for the evaluation and characterization of suspected head and neck paraganglioma. Definitive management for these lesions should be carefully considered in relation to both tumor and patient-oriented factors, especially in regard to the potential morbidity of treatment. Surgery and radiation therapy represent the main treatment modalities for paraganglioma. The selection of treatment depends on the size, location, and biologic activity of the tumor as well as the overall fitness of the patient. Although radiotherapy may be effective in arresting growth of these tumors, rarely is the neoplasm eliminated without surgical resection. Surgery may be associated with significant morbidity, primarily as a consequence of incurring major cranial nerve injury. Patient selection (relative to age and medical condition) should be carefully considered prior to recommending aggressive surgery for paragangliomas of head and neck, especially in those patients at risk for disabling surgical morbidity.
0 Communities
1 Members
0 Resources
12 MeSH Terms
Management of incidentally discovered cervical paragangliomas: report of two cases and review of current issues.
Grogan EL, Wheeler WG, Ross CB
(1999) J Ky Med Assoc 97: 559-65
MeSH Terms: Aged, Carotid Body Tumor, Female, Head and Neck Neoplasms, Humans, Male, Middle Aged, Paraganglioma, Extra-Adrenal
Show Abstract · Added March 5, 2014
Paragangliomas of the head and neck are uncommon neoplasms arising from the extra-adrenal paraganglia and include carotid body and glomus vagale tumors. These lesions may be discovered incidentally by imaging studies performed to evaluate carotid atherosclerotic occlusive disease. Incidental paragangliomas of the head and neck may be smaller than those discovered due to symptoms. Although surgical resection remains the definitive treatment for head and neck paragangliomas, important issues of management arise when such lesions are discovered. Two recent cases are reported. Epidemiology, pathophysiology, diagnostic evaluation, and issues of management of head and neck paragangliomas are discussed.
0 Communities
1 Members
0 Resources
8 MeSH Terms
Carotid body tumors: a review of 30 patients with 46 tumors.
Netterville JL, Reilly KM, Robertson D, Reiber ME, Armstrong WB, Childs P
(1995) Laryngoscope 105: 115-26
MeSH Terms: Adult, Aged, Carotid Body Tumor, Cranial Nerves, Female, Follow-Up Studies, Humans, Lymphatic Metastasis, Male, Middle Aged, Neoplasms, Multiple Primary, Paraganglioma, Paresis, Postoperative Complications, Retrospective Studies, Surgical Flaps
Show Abstract · Added December 10, 2013
Minimal morbidity occurs with resection of most carotid body tumors (CBT). With larger tumors significant injury to the cranial nerves has been reported. In order to assess the operative sequelae rate, 30 patients with CBT were reviewed. Sixteen patients either presented with bilateral carotid body tumors or had previously undergone a resection of the contralateral carotid body tumors, for a total carotid body tumor count of 46. Sixteen patients demonstrated a familial pattern while 14 were nonfamilial. Within the familial group, 14 of 16 presented with multiple paragangliomas as compared to 6 of 14 in the nonfamilial group. Tumor size ranged from 0.8 to 12 cm. Vascular replacement occurred in 2 of 20 patients with tumors < 5.0 cm, compared with 5 of 9 with tumors > 5.0 cm. Four patients lost cranial nerves with the resection: superior laryngeal nerve (SLN), 4; cranial nerve X, 1; cranial nerve XII, 1. Ten patients developed baroreceptor failure secondary to bilateral loss of carotid sinus function. First-bite pain occurred in 10 of 25 operative patients. Cranial nerve loss can be minimal with resection of carotid body tumors, however, baroreceptor failure and first-bite pain are postoperative sequelae that are often disregarded in the postoperative period.
0 Communities
1 Members
0 Resources
16 MeSH Terms