Genetic Testing for Pheochromocytoma

被引：47

作者：

Karasek, David ^{[2
]}

Frysak, Zdenek ^{[2
]}

Pacak, Karel ^{[1
]}

机构：

[1] NICHD, Reprod & Adult Endocrinol Program, NIH, Bethesda, MD 20892 USA

[2] Univ Hosp Olomouc, Dept Internal Med 3, Olomouc 77520, Czech Republic

来源：

CURRENT HYPERTENSION REPORTS | 2010年 / 12卷 / 06期

关键词：

Genetic testing; Paraganglioma; Pheochromocytoma; Multiple endocrine neoplasia type 2; von Hippel-Lindau disease; Neurofibromatosis type 1; Succinate dehydrogenase complex genes; Immunohistochemistry; Catecholamines; ENDOCRINE NEOPLASIA TYPE-2; HIPPEL-LINDAU-DISEASE; SUCCINATE-DEHYDROGENASE; GERMLINE MUTATIONS; NEUROFIBROMATOSIS TYPE-1; FUNCTIONAL PARAGANGLIOMA; CLINICAL-FEATURES; SDHB; TUMOR; DIAGNOSIS;

D O I：

10.1007/s11906-010-0151-1

中图分类号：

R6 [外科学];

学科分类号：

1002 ; 100210 ;

摘要：

Pheochromocytomas (PHEOs) and paragangliomas (PGLs) are rare, catecholamine-producing tumors that are usually sporadic. However, about 30% of these tumors have been identified as being of inherited origin. To date, nine genes have been confirmed as participating in PHEO or PGL tumorigenesis. Germline mutations were found in 100% of syndromic cases and in about 90% of patients with positive familial history. In nonsyndromic patients with apparently sporadic tumors, genetic mutations have been found in up to 27%, and genetic testing is now recommended for all patients with PHEOs and PGLs. Patients with syndromic lesions, a positive family history, or both should be tested for the appertaining gene. Recent discoveries have shown that the order of tested genes in nonsyndromic, nonfamilial cases can be based on histologic evaluation, location, and the biochemical phenotype of PHEOs and PGLs-the "rule of three." Identification of a gene mutation may lead to early diagnosis and treatment, regular surveillance, and a better prognosis for patients and their relatives.

引用

页码：456 / 464

页数：9

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