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Genetic testing for pheochromocytoma
D. Karasek, Z. Frysak, K. Pacak,
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články, Research Support, N.I.H., Extramural, přehledy
NLK
ProQuest Central
od 2009-01-01 do Před 1 rokem
Medline Complete (EBSCOhost)
od 1999-01-01 do Před 1 rokem
Health & Medicine (ProQuest)
od 2009-01-01 do Před 1 rokem
- MeSH
- asymptomatické nemoci mortalita MeSH
- časná detekce nádoru MeSH
- dospělí MeSH
- feochromocytom diagnóza genetika mortalita terapie MeSH
- genetické testování MeSH
- katecholaminy genetika MeSH
- lidé středního věku MeSH
- lidé MeSH
- míra přežití MeSH
- mnohočetná endokrinní neoplazie typ 2A diagnóza genetika mortalita terapie MeSH
- nádory nadledvin diagnóza genetika mortalita terapie MeSH
- sukcinátdehydrogenasa genetika MeSH
- výsledek terapie MeSH
- zárodečné mutace MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
- Research Support, N.I.H., Extramural MeSH
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.
Citace poskytuje Crossref.org
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- $a 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.
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