ISSN : 1302-7123 | E-ISSN : 1308-5123
Şişli Etfal Hastanesi Tıp Bülteni
Pheochromocytoma and paraganglioma: from clinical findings to diagnosis [SETB]
SETB. Baskıdaki Makaleler: SETB-14826 | DOI: 10.14744/SEMB.2020.14826

Pheochromocytoma and paraganglioma: from clinical findings to diagnosis

Nurcihan Aygun, Mehmet Uludag
University of Health Sciences, Sisli Hamidiye Etfal Medical Practice and Research Center, Department of General Surgery, Istanbul, Turkey

The majority of pheocromocytoma (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 can present with local compression symptoms.
Persistent, sometimes worsening hypertension is the most common finding and occurs in 80-90% of patients. Classically defined symptom triad; headache, sweating and palpitations are seen in only 25% of 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 those with additional tips for catecholamine excess should be screened.
Approximately 20% of 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 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 biochemical diagnosis is made in PPGL, the tumor is localized with imaging methods in order 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: Pheocromocytoma and paraganglioma, diagnosis, genetic testing, localization studies

Pheochromocytoma and paraganglioma: from clinical findings to diagnosis

Nurcihan Aygun, Mehmet Uludag
University of Health Sciences, Sisli Hamidiye Etfal Medical Practice and Research Center, Department of General Surgery, Istanbul, Turkey

The majority of pheocromocytoma (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 can present with local compression symptoms.
Persistent, sometimes worsening hypertension is the most common finding and occurs in 80-90% of patients. Classically defined symptom triad; headache, sweating and palpitations are seen in only 25% of 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 those with additional tips for catecholamine excess should be screened.
Approximately 20% of 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 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 biochemical diagnosis is made in PPGL, the tumor is localized with imaging methods in order 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: Pheocromocytoma and paraganglioma, diagnosis, genetic testing, localization studies



Sorumlu Yazar: Nurcihan Aygun
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