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    Genotype-phenotype correlations in pheochromocytoma and paraganglioma

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    Authors
    Crona, J
    Lamarca, Angela
    Ghosal, S
    Welin, S
    Skogseid, B
    Pacak, K
    Affiliation
    Department of Medical Sciences, Uppsala Universitet, Uppsala, 75185, Sweden
    Issue Date
    2019
    
    Metadata
    Show full item record
    Abstract
    Pheochromocytoma and paraganglioma (PPGL) can be divided into at least four molecular subgroups. Whether such categorizations are independent factors for prognosis or metastatic disease is unknown. We performed a systematic review and individual patient meta-analysis aiming to estimate if driver mutation status can predict metastatic disease and survival. Driver mutations were used to categorize patients accordingly to three different molecular systems: two subgroups (SDHB mutated or wild type), three subgroups (pseudohypoxia, kinase signaling or Wnt/unknown) and four subgroups (tricarboxylic acid cycle, VHL/EPAS1, kinase signaling or Wnt/unknown). Twenty-one studies and 703 patients were analyzed. Multivariate models for association with metastasis showed correlation with SDHB mutation (OR 5.68 [95% CI 1.79-18.06]) as well as norepinephrine (OR 3.01 [95% CI 1.02-8.79]) and dopamine (OR 6.39 [95% CI 1.62-25.24]) but not to PPGL location. Other molecular systems were not associated with metastasis. In multivariate models for association with survival, age (HR 1.04 [95% CI 1.02-1.06]) and metastases (HR 6.13 [95% CI 2.86-13.13]) but neither paraganglioma or SDHB mutation remained significant. Other molecular subgroups did not correlate with survival. We conclude that molecular categorization accordingly to SDHB provided independent information on the risk of metastasis. Driver mutations status did not correlate independently with survival. These data may ultimately be used to guide current and future risk stratification of PPGL.
    Citation
    Crona J, Lamarca A, Ghosal S, Welin S, Skogseid B, Pacak K. Genotype-phenotype correlations in pheochromocytoma and paraganglioma. Endocr Relat Cancer. 2019.
    Journal
    Endocrine-Related Cancer
    URI
    http://hdl.handle.net/10541/621772
    DOI
    10.1530/ERC-19-0024
    PubMed ID
    30893643
    Additional Links
    https://dx.doi.org/10.1530/ERC-19-0024
    Type
    Article
    Language
    en
    ae974a485f413a2113503eed53cd6c53
    10.1530/ERC-19-0024
    Scopus Count
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