Juvenile-onset Hereditary Pheochromocytoma-paraganglioma Syndrome

It is insufficient to distinguish benign tumors from malignant pheochromocytoma using histological analyses of resected tissue alone. We experienced an 18-year-old woman who complained of severe headaches in whom hypertension was revealed. She was suspected of having a malignant tumor based on her c...

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Veröffentlicht in:Internal Medicine 2013, Vol.52(2), pp.281-284
Hauptverfasser: Sugisawa, Chiho, Okada, Yosuke, Arao, Tadashi, Mori, Hiroko, Nishida, Keiko, Isobe, Kazumasa, Takekoshi, Kazuhiro, Tanaka, Yoshiya
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container_end_page 284
container_issue 2
container_start_page 281
container_title Internal Medicine
container_volume 52
creator Sugisawa, Chiho
Okada, Yosuke
Arao, Tadashi
Mori, Hiroko
Nishida, Keiko
Isobe, Kazumasa
Takekoshi, Kazuhiro
Tanaka, Yoshiya
description It is insufficient to distinguish benign tumors from malignant pheochromocytoma using histological analyses of resected tissue alone. We experienced an 18-year-old woman who complained of severe headaches in whom hypertension was revealed. She was suspected of having a malignant tumor based on her clinical characteristics, despite showing no evidence of metastatic lesions. The patient was diagnosed with an aggressive form of hereditary pheochromocytoma-paraganglioma syndrome (HPPS) based on immunohistochemical analyses and genetic testing. The present case indicates that conducting genetic testing, including SDHB mutation analyses, is required to determine the prognosis in patients highly suspected of having HPPS.
doi_str_mv 10.2169/internalmedicine.52.8223
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source MEDLINE; J-STAGE (Japan Science & Technology Information Aggregator, Electronic) Freely Available Titles - Japanese
subjects Adolescent
Female
Genetic Diseases, Inborn - diagnosis
Genetic Diseases, Inborn - genetics
Genetic Diseases, Inborn - surgery
hereditary pheochromocytoma-paraganglioma syndrome
Humans
malignant pheochromocytoma
Paraganglioma - diagnosis
Paraganglioma - genetics
Paraganglioma - surgery
Pheochromocytoma - diagnosis
Pheochromocytoma - genetics
Pheochromocytoma - surgery
SDHB
secondary hypertension
Syndrome
title Juvenile-onset Hereditary Pheochromocytoma-paraganglioma Syndrome
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