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Cited by 618Adrenal and Paraganglionic TumorsNeuroendocrine Tumor Research AdvancesNeuroblastoma Research and Treatments

The DOI matches its Crossref record; 134 of the 134 references it cites were found in a registry or an index.

Recent Advances in Genetics, Diagnosis, Localization, and Treatment of Pheochromocytoma

Pacak, Karel, Linehan, W. Marston, Eisenhofer, Graeme, Walther, McClellan M., Goldstein, David S.·2001·Annals of Internal Medicine
DOI 10.7326/0003-4819-134-4-200102200-00016
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Abstract

Pheochromocytoma is a rare but important tumor of chromaffin cells that is frequently considered in the evaluation of hypertension, arrhythmias, or panic disorder and in the follow-up of patients with particular genetic diseases. This report provides an update about the genetics, neurochemical diagnosis, localization by imaging, and surgical management of pheochromocytoma. Specific mutations of the RET proto-oncogene cause familial predisposition to pheochromocytoma in multiple endocrine neoplasia type II, and mutations in the von Hippel-Lindau tumor suppressor gene cause familial disposition to pheochromocytoma in von Hippel-Lindau disease. Recent findings demonstrating extraordinarily high sensitivity of plasma levels of metanephrines for detecting pheochromocytoma have led to an algorithm for clinical diagnostic steps. Nuclear imaging approaches, such as(123) I-metaiodobenzylguanidine scintigraphy and 6-[(18) F]fluorodopamine positron emission tomography, enhance both diagnosis and localization of the tumor, as described in an algorithm for patients with positive biochemical test results. Since pheochromocytoma is often benign, surgical resection by laparoscopic adrenalectomy can be curative. Areas requiring further work include determining appropriate follow-up of patients with familial pheochromocytoma, elucidating the bases for phenotypic differences, improving both specificity and sensitivity of biochemical tests, optimizing cost-effectiveness of diagnostic imaging, and testing the risk for tumor recurrence after partial adrenalectomy.

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Crossref · 10.7326/0003-4819-134-4-200102200-00016

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Metadata

Authors
Pacak, K., Linehan, W. M., Eisenhofer, G., Walther, M. M., & Goldstein, D. S.
Affiliations
  • From the National Institutes of Health, Bethesda, Maryland.
  • National Institutes of Health (US)
ORCID
Venue
Annals of Internal Medicine
Publisher
American College of Physicians
Published
2001-02-20
Volume
134
Issue
4
Pages
315-329
ISSN
  • 0003-4819 (ISSN-L)
  • 1539-3704
DOI
10.7326/0003-4819-134-4-200102200-00016
OpenAlex
W2041573853
Cited by
618
References
134
Citations by year
2026: 5 · 2025: 13 · 2024: 13 · 2023: 9 · 2022: 20 · 2021: 21 · 2020: 19 · 2019: 19 · 2018: 22 · 2017: 13 · 2016: 9 · 2015: 24 · 2014: 27 · 2013: 29 · 2012: 19
FWCI
32.00
Type
journal article
Language
en
Open access
closed
Licence
www.acpjournals.org/journal/aim/text-and-data-mining (tdm)
Locations
  • Annals of Internal Medicine (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Health Sciences › Medicine › Surgery › Adrenal and Paraganglionic Tumors
  • Health Sciences › Medicine › Oncology › Neuroendocrine Tumor Research Advances
  • Health Sciences › Medicine › Oncology › Neuroblastoma Research and Treatments
Keywords
pheochromocytoma, RET proto-oncogene, multiple endocrine neoplasia type 2, von Hippel-Lindau disease, von Hippel-Lindau tumor suppressor gene, metanephrine, biochemical diagnosis, MIBG scintigraphy, tumor localization, laparoscopic adrenalectomy, familial pheochromocytoma, hypertension
MeSH terms
Proto-Oncogene Mas, Adrenal Gland Neoplasms, Algorithms, Biochemistry, Diagnostic Imaging, Humans, Pheochromocytoma, Sensitivity and Specificity

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CoChat. (2026). Citation check: Recent Advances in Genetics, Diagnosis, Localization, and Treatment of Pheochromocytoma. https://app.cochat.ai/papers/10.7326/0003-4819-134-4-200102200-00016
The paper
Pacak, K., Linehan, W. M., Eisenhofer, G., Walther, M. M., & Goldstein, D. S. (2001). Recent Advances in Genetics, Diagnosis, Localization, and Treatment of Pheochromocytoma. Annals of Internal Medicine. https://doi.org/10.7326/0003-4819-134-4-200102200-00016