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  • According to latest discoveries about 30% of pheochromocytomas and paragangliomas have identified being of inherited origin. Germline mutations used to be found in 100% of syndromic cases and about 90% of patients with positive familial history. In non-syndromic patients with apparently sporadic tumor the frequency of genetic mutations varies between 7.5-27%. Nowadays, genetic testing is recommended for all patients with pheochromocytoma or paraganglioma. The proper order of tested genes could be based on histological evaluation, localization and biochemical phenotype of the present tumor. Identification of gene mutation may also lead to early diagnosis, treatment, regular surveillance and better prognosis in other family members.
  • According to latest discoveries about 30% of pheochromocytomas and paragangliomas have identified being of inherited origin. Germline mutations used to be found in 100% of syndromic cases and about 90% of patients with positive familial history. In non-syndromic patients with apparently sporadic tumor the frequency of genetic mutations varies between 7.5-27%. Nowadays, genetic testing is recommended for all patients with pheochromocytoma or paraganglioma. The proper order of tested genes could be based on histological evaluation, localization and biochemical phenotype of the present tumor. Identification of gene mutation may also lead to early diagnosis, treatment, regular surveillance and better prognosis in other family members. (en)
Title
  • Genetic testing for pheochromocytoma
  • Genetic testing for pheochromocytoma (en)
skos:prefLabel
  • Genetic testing for pheochromocytoma
  • Genetic testing for pheochromocytoma (en)
skos:notation
  • RIV/61989592:15110/10:10224193!RIV12-MSM-15110___
http://linked.open...avai/riv/aktivita
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  • RIV/61989592:15110/10:10224193
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  • catecholamines; immunohistochemistry; neurofibromatosis type 1; pheochromocytoma; paraganglioma; genetic testing (en)
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http://linked.open...odStatuVydavatele
  • US - Spojené státy americké
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  • [E919E4DD0F14]
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  • Current Hypertension Reviews
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  • 12
http://linked.open...iv/tvurceVysledku
  • Fryšák, Zdeněk
  • Karásek, David
  • Pacak, Karel
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  • 1573-4021
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http://localhost/t...ganizacniJednotka
  • 15110
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