ISSN : 1302-7123 | E-ISSN : 1308-5123
Pheochromocytoma and Paraganglioma: From Clinical Findings to Diagnosis [SETB]
SETB. 2020; 54(3): 271-280 | DOI: 10.14744/SEMB.2020.14826

Pheochromocytoma and Paraganglioma: From Clinical Findings to Diagnosis

Nurcihan Aygun, Mehmet Uludag
Department of General Surgery, University of Health Sciences Turkey, Sisli Hamidiye Etfal Teaching and Research Hospital, Istanbul, Turkey

The majority of pheochromocytoma (PCC) and paraganglioma (PGL) are endocrine active tumors, and they cause clinical symptoms by secreting excess one or more catecholamines (epinephrine, norepinephrine, and dopamine) and their inactive metabolites (metanephrine, normetanephrine, 3-metoxythromine). Although signs and symptoms regarding excess catecholamine often develop in PCC and PGL (PPGL), non-functional PPGLs may present with local compression symptoms. Persistent, sometimes worsening hypertension is the most common finding and occurs in 80-90% of the patients. Classically defined symptom triad; headache, sweating and palpitations are seen in only 25% of the patients with PCC. The difference of clinical symptoms may be related to the tumor secretion, epinephrine or norepinephrine. All patients with signs and symptoms suggestive of catecholamine excess should be screened by biochemical tests regardless of whether they have hypertension or not. Not all patients with newly diagnosed hypertension need to be screened, but only patients with additional tips for catecholamine excess should be screened. Approximately 20% of the PPGLs are diagnosed in childhood, and the male/female ratio is 2/1. 60-90% of pediatric patients present with hypertension. PPGL in pregnancy is rare, and the estimated incidence ranges between 1/15000-1/54000. Although early diagnosis is the most important factor in preventing mortality, diagnosis is not as easy as it is a rare condition. Hypertension is a common complication in pregnancy, occurring in 5-10%. Computed tomography should not be used as the imaging method during pregnancy; the first choice is magnetic resonance imaging with gadolinium or without contrast. Plasma free metanephrine or 24-hour urinary fractionated metanephrine level is recommended as a screening test for the diagnosis of PPGL in the Endocrine Society Clinical Practice Guideline. In suspicious situations, tests should be repeated. Since 40% of these patients have germline mutations, genetic tests are recommended for all patients with PPGL regardless of family history and age. Preoperative knowledge of germline mutations affects the surgical approach and the extent of adrenalectomy. After the biochemical diagnosis is made in PPGL, the tumor is localized with imaging methods to make the operation plan. In this review, we aimed to evaluate the clinical findings, diagnostic tests, and imaging studies for tumor localization in PPGL.

Keywords: Diagnosis, genetic testing; localization studies; pheocromocytoma and paraganglioma.

Pheochromocytoma and Paraganglioma: From Clinical Findings to Diagnosis

Nurcihan Aygun, Mehmet Uludag
Department of General Surgery, University of Health Sciences Turkey, Sisli Hamidiye Etfal Teaching and Research Hospital, Istanbul, Turkey

The majority of pheochromocytoma (PCC) and paraganglioma (PGL) are endocrine active tumors, and they cause clinical symptoms by secreting excess one or more catecholamines (epinephrine, norepinephrine, and dopamine) and their inactive metabolites (metanephrine, normetanephrine, 3-metoxythromine). Although signs and symptoms regarding excess catecholamine often develop in PCC and PGL (PPGL), non-functional PPGLs may present with local compression symptoms. Persistent, sometimes worsening hypertension is the most common finding and occurs in 80-90% of the patients. Classically defined symptom triad; headache, sweating and palpitations are seen in only 25% of the patients with PCC. The difference of clinical symptoms may be related to the tumor secretion, epinephrine or norepinephrine. All patients with signs and symptoms suggestive of catecholamine excess should be screened by biochemical tests regardless of whether they have hypertension or not. Not all patients with newly diagnosed hypertension need to be screened, but only patients with additional tips for catecholamine excess should be screened. Approximately 20% of the PPGLs are diagnosed in childhood, and the male/female ratio is 2/1. 60-90% of pediatric patients present with hypertension. PPGL in pregnancy is rare, and the estimated incidence ranges between 1/15000-1/54000. Although early diagnosis is the most important factor in preventing mortality, diagnosis is not as easy as it is a rare condition. Hypertension is a common complication in pregnancy, occurring in 5-10%. Computed tomography should not be used as the imaging method during pregnancy; the first choice is magnetic resonance imaging with gadolinium or without contrast. Plasma free metanephrine or 24-hour urinary fractionated metanephrine level is recommended as a screening test for the diagnosis of PPGL in the Endocrine Society Clinical Practice Guideline. In suspicious situations, tests should be repeated. Since 40% of these patients have germline mutations, genetic tests are recommended for all patients with PPGL regardless of family history and age. Preoperative knowledge of germline mutations affects the surgical approach and the extent of adrenalectomy. After the biochemical diagnosis is made in PPGL, the tumor is localized with imaging methods to make the operation plan. In this review, we aimed to evaluate the clinical findings, diagnostic tests, and imaging studies for tumor localization in PPGL. (SETB-2020-06-098)

Anahtar Kelimeler: Diagnosis, genetic testing; localization studies; pheocromocytoma and paraganglioma.

Nurcihan Aygun, Mehmet Uludag. Pheochromocytoma and Paraganglioma: From Clinical Findings to Diagnosis. SETB. 2020; 54(3): 271-280

Corresponding Author: Nurcihan Aygun
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