Compendium of Cancer Genome Aberrations

HAEM5:Acute myeloid leukaemia with NUP98 rearrangement: Difference between revisions

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*RNA sequencing
*RNA sequencing
*Optical genome mapping<br />
*Optical genome mapping<br />
[[File:NUP98 NSD1.png|none|thumb|617x617px|Karyotype image of NUP98 rearranged acute myeloid leukemia. Due to the cryptic nature of NUP98 rearrangement, karyotype is usually normal. ]]
[[File:NUP98 NSD1 OGM panel figure.png|none|thumb|617x617px|Cytogenetically cryptic ''NUP98::NSD1'' rearrangement detected by optical genome mapping. '''Panel A''': Circos plot depicting t(5;11)(q35.3;p15.4) with inset of chromosomes 5 and 11 showing no visible abnormalities in banded chromosomes. '''Panel B''': ''NUP98::NSD1'' fusion variant call. '''Panel C''': Concurrent deletion of ''WT1''; abnormalities of ''WT1'' are highly recurrent in AML with ''NUP98::NSD1''.]]
[[File:T(5;11).jpg|none|thumb|584x584px|Optical genome mapping. Figure A showing circus plot with t(5;11). Figure B showing exact breakpoints of the translocation leading to NUP98::NSD1 fusion. Figure C showing WT1 deletion which is a common secondary event in NUP98 rearranged AML.]]
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==Familial Forms==
==Familial Forms==
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