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Difference between revisions of "Pineal gland"
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Pineoblastoma →Molecular
Jensflorian (talk | contribs) (→Pineoblastoma: +Molecular) |
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===Molecular=== | ===Molecular=== | ||
* DICER1 mutations.<ref name="pmid25022261">{{cite journal |vauthors=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> | * DICER1 mutations.<ref name="pmid25022261">{{cite journal |vauthors=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 |vauthors=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= | *DROSHA deletions. <ref name="pmid30877433">{{cite journal |vauthors=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: | ||