| 000 | nab a22 7a 4500 | ||
|---|---|---|---|
| 999 |
_c17492 _d17492 |
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| 003 | PC17492 | ||
| 005 | 20230530135413.0 | ||
| 008 | 230530b xxu||||| |||| 00| 0 eng d | ||
| 040 | _cH12O | ||
| 041 | _aeng | ||
| 100 |
_9856 _aPérez Barrios, Andrés _eAnatomía Patológica |
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| 100 |
_92309 _aCalatayud Gutiérrez, María _eEndocrinología y Nutrición |
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| 245 | 0 | 0 |
_aWhole-exome sequencing identifies MDH2 as a new familial paraganglioma gene. _h[caso clínico] |
| 260 |
_bJournal of the National Cancer Institute, _c2015 |
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| 300 | _a107(5):djv053. | ||
| 500 | _aFormato Vancouver: Cascón A, Comino Méndez I, Currás Freixes M, de Cubas AA, Contreras L, Richter S et al. Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene. J Natl Cancer Inst. 2015 Mar 11;107(5):djv053. | ||
| 501 | _aPMID: 25766404 | ||
| 504 | _aContiene 21 referencias | ||
| 520 | _aDisruption of the Krebs cycle is a hallmark of cancer. IDH1 and IDH2 mutations are found in many neoplasms, and germline alterations in SDH genes and FH predispose to pheochromocytoma/paraganglioma and other cancers. We describe a paraganglioma family carrying a germline mutation in MDH2, which encodes a Krebs cycle enzyme. Whole-exome sequencing was applied to tumor DNA obtained from a man age 55 years diagnosed with multiple malignant paragangliomas. Data were analyzed with the two-sided Student's t and Mann-Whitney U tests with Bonferroni correction for multiple comparisons. Between six- and 14-fold lower levels of MDH2 expression were observed in MDH2-mutated tumors compared with control patients. Knockdown (KD) of MDH2 in HeLa cells by shRNA triggered the accumulation of both malate (mean ± SD: wild-type [WT] = 1±0.18; KD = 2.24±0.17, P = .043) and fumarate (WT = 1±0.06; KD = 2.6±0.25, P = .033), which was reversed by transient introduction of WT MDH2 cDNA. Segregation of the mutation with disease and absence of MDH2 in mutated tumors revealed MDH2 as a novel pheochromocytoma/paraganglioma susceptibility gene. | ||
| 710 |
_9330 _aServicio de Anatomía Patológica |
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| 710 |
_9292 _aServicio de Endocrinología y Nutrición |
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| 856 |
_uhttp://pc-h12o-es.m-hdoct.a17.csinet.es/pdf/pc/1/pc17492.pdf _ySolicitar documento |
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| 942 |
_2ddc _cCAS _n0 |
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