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Difference between revisions of "Pineal gland"
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===Molecular=== | ===Molecular=== | ||
* Insertions in KBTBD4.<ref name="pmid31768671">{{cite journal | | * Insertions in KBTBD4.<ref name="pmid31768671">{{cite journal |authors=Pfaff E, Aichmüller C, Sill M, Stichel D, Snuderl M, Karajannis MA, Schuhmann MU, Schittenhelm J, Hasselblatt M, Thomas C, Korshunov A, Rhizova M, Wittmann A, Kaufhold A, Iskar M, Ketteler P, Lohmann D, Orr BA, Ellison DW, von Hoff K, Mynarek M, Rutkowski S, Sahm F, von Deimling A, Lichter P, Kool M, Zapatka M, Pfister SM, Jones DTW |title=Molecular subgrouping of primary pineal parenchymal tumors reveals distinct subtypes correlated with clinical parameters and genetic alterations |journal=Acta Neuropathol |volume=139 |issue=2 |pages=243–257 |date=February 2020 |pmid=31768671 |doi=10.1007/s00401-019-02101-0 |url=}}</ref> | ||
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===Molecular=== | ===Molecular=== | ||
* PTEN alterations. <ref name="pmid26113311">{{cite journal | | * PTEN alterations. <ref name="pmid26113311">{{cite journal |authors=Heim S, Sill M, Jones DT, Vasiljevic A, Jouvet A, Fèvre-Montange M, Wesseling P, Beschorner R, Mittelbronn M, Kohlhof P, Hovestadt V, Johann P, Kool M, Pajtler KW, Korshunov A, Ruland V, Sperveslage J, Thomas C, Witt H, von Deimling A, Paulus W, Pfister SM, Capper D, Hasselblatt M |title=Papillary Tumor of the Pineal Region: A Distinct Molecular Entity |journal=Brain Pathol |volume=26 |issue=2 |pages=199–205 |date=March 2016 |pmid=26113311 |doi=10.1111/bpa.12282 |url=}}</ref> | ||
*Chromosome 10 loss. | *Chromosome 10 loss. | ||
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===Molecular=== | ===Molecular=== | ||
* DICER1 mutations.<ref name="pmid25022261">{{cite journal | | * DICER1 mutations.<ref name="pmid25022261">{{cite journal |authors=de Kock L, Sabbaghian N, Druker H, Weber E, Hamel N, Miller S, Choong CS, Gottardo NG, Kees UR, Rednam SP, van Hest LP, Jongmans MC, Jhangiani S, Lupski JR, Zacharin M, Bouron-Dal Soglio D, Huang A, Priest JR, Perry A, Mueller S, Albrecht S, Malkin D, Grundy RG, Foulkes WD |title=Germ-line and somatic DICER1 mutations in pineoblastoma |journal=Acta Neuropathol |volume=128 |issue=4 |pages=583–95 |date=October 2014 |pmid=25022261 |pmc=4381868 |doi=10.1007/s00401-014-1318-7 |url=}}</ref> | ||
*DROSHA deletions. <ref name="pmid30877433">{{cite journal | | *DROSHA deletions. <ref name="pmid30877433">{{cite journal |authors=Lee JC, Mazor T, Lao R, Wan E, Diallo AB, Hill NS, Thangaraj N, Wendelsdorf K, Samuel D, Kline CN, Banerjee A, Auguste K, Raffel C, Gupta N, Berger M, Raleigh DR, Shai A, Phillips JJ, Bollen AW, Tihan T, Perry A, Costello J, Solomon DA |title=Recurrent KBTBD4 small in-frame insertions and absence of DROSHA deletion or DICER1 mutation differentiate pineal parenchymal tumor of intermediate differentiation (PPTID) from pineoblastoma |journal=Acta Neuropathol |volume=137 |issue=5 |pages=851–854 |date=May 2019 |pmid=30877433 |pmc=6483828 |doi=10.1007/s00401-019-01990-5 |url=}}</ref> | ||
DDx: | DDx: | ||