Difference between revisions of "Molecular pathology tests"

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(split out neuropathology)
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| MGMT
| MGMT
| Methylation-specific.
| Methylation-specific PCR, Pyroseq.
| [[glioblastoma]],  [[astrocytoma]] & [[oligodendroglioma]].
| [[glioblastoma]],  [[astrocytoma]] & [[oligodendroglioma]].
| Prognostic & predicts treatment to Temozolomide treatment.<ref>{{Cite journal  | last1 = Stupp | first1 = R. | last2 = Hegi | first2 = ME. | last3 = Mason | first3 = WP. | last4 = van den Bent | first4 = MJ. | last5 = Taphoorn | first5 = MJ. | last6 = Janzer | first6 = RC. | last7 = Ludwin | first7 = SK. | last8 = Allgeier | first8 = A. | last9 = Fisher | first9 = B. | title = Effects of radiotherapy with concomitant and adjuvant temozolomide versus radiotherapy alone on survival in glioblastoma in a randomised phase III study: 5-year analysis of the EORTC-NCIC trial. | journal = Lancet Oncol | volume = 10 | issue = 5 | pages = 459-66 | month = May | year = 2009 | doi = 10.1016/S1470-2045(09)70025-7 | PMID = 19269895 }}</ref>
| Prognostic & predicts treatment to Temozolomide treatment.<ref>{{Cite journal  | last1 = Stupp | first1 = R. | last2 = Hegi | first2 = ME. | last3 = Mason | first3 = WP. | last4 = van den Bent | first4 = MJ. | last5 = Taphoorn | first5 = MJ. | last6 = Janzer | first6 = RC. | last7 = Ludwin | first7 = SK. | last8 = Allgeier | first8 = A. | last9 = Fisher | first9 = B. | title = Effects of radiotherapy with concomitant and adjuvant temozolomide versus radiotherapy alone on survival in glioblastoma in a randomised phase III study: 5-year analysis of the EORTC-NCIC trial. | journal = Lancet Oncol | volume = 10 | issue = 5 | pages = 459-66 | month = May | year = 2009 | doi = 10.1016/S1470-2045(09)70025-7 | PMID = 19269895 }}</ref>
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| BRAF-Fusion
| RT-PCR, RNAseq + Defuse-Analysis<ref>{{Cite journal  | last1 = McPherson | first1 = A. | last2 = Hormozdiari | first2 = F. | last3 = Zayed | first3 = A. | last4 = Giuliany | first4 = R. | last5 = Ha | first5 = G. | last6 = Sun | first6 = MG. | last7 = Griffith | first7 = M. | last8 = Heravi Moussavi | first8 = A. | last9 = Senz | first9 = J. | title = deFuse: an algorithm for gene fusion discovery in tumor RNA-Seq data. | journal = PLoS Comput Biol | volume = 7 | issue = 5 | pages = e1001138 | month = May | year = 2011 | doi = 10.1371/journal.pcbi.1001138 | PMID = 21625565 }}</ref>
| [[pilocytic astrocytoma]]
| Diagnostic.<ref>{{Cite journal  | last1 = Hasselblatt | first1 = M. | last2 = Riesmeier | first2 = B. | last3 = Lechtape | first3 = B. | last4 = Brentrup | first4 = A. | last5 = Stummer | first5 = W. | last6 = Albert | first6 = FK. | last7 = Sepehrnia | first7 = A. | last8 = Ebel | first8 = H. | last9 = Gerss | first9 = J. | title = BRAF-KIAA1549 fusion transcripts are less frequent in pilocytic astrocytomas diagnosed in adults. | journal = Neuropathol Appl Neurobiol | volume = 37 | issue = 7 | pages = 803-6 | month = Dec | year = 2011 | doi = 10.1111/j.1365-2990.2011.01193.x | PMID = 21696415 }}</ref>
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| Rela-Fusion
| RT-PCR, RNAseq + Defuse-Analysis
| supratentorial [[ependymoma]]
| Diagnostic and prognostic (unfavourable, when present).<ref>{{Cite journal  | last1 = Parker | first1 = M. | last2 = Mohankumar | first2 = KM. | last3 = Punchihewa | first3 = C. | last4 = Weinlich | first4 = R. | last5 = Dalton | first5 = JD. | last6 = Li | first6 = Y. | last7 = Lee | first7 = R. | last8 = Tatevossian | first8 = RG. | last9 = Phoenix | first9 = TN. | title = C11orf95-RELA fusions drive oncogenic NF-κB signalling in ependymoma. | journal = Nature | volume = 506 | issue = 7489 | pages = 451-5 | month = Feb | year = 2014 | doi = 10.1038/nature13109 | PMID = 24553141 }}</ref>
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