HAEM5:B-lymphoblastic leukaemia/lymphoma with iAMP21: Difference between revisions
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{{DISPLAYTITLE:B-lymphoblastic leukaemia/lymphoma with iAMP21}} | {{DISPLAYTITLE:B-lymphoblastic leukaemia/lymphoma with iAMP21}} | ||
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours ( | [[HAEM5:Table_of_Contents|Haematolymphoid Tumours (5th ed.)]] | ||
<br /> | <br /> | ||
| Line 122: | Line 122: | ||
|X | |X | ||
|Gain | |Gain | ||
| | |EXAMPLE | ||
chr7:1- 159,335,973 [hg38] | chr7:1- 159,335,973 [hg38] | ||
| | |EXAMPLE | ||
chr7 | chr7 | ||
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|Yes | |Yes | ||
|No | |No | ||
| | |EXAMPLE | ||
Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference). Monosomy 7/7q deletion is associated with a poor prognosis in AML (add reference). | Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference). Monosomy 7/7q deletion is associated with a poor prognosis in AML (add reference). | ||
| Line 137: | Line 137: | ||
|10 | |10 | ||
|Gain | |Gain | ||
| | |EXAMPLE | ||
chr8:1-145,138,636 [hg38] | chr8:1-145,138,636 [hg38] | ||
| | |EXAMPLE | ||
chr8 | chr8 | ||
| Line 146: | Line 146: | ||
|No | |No | ||
|No | |No | ||
| | |EXAMPLE | ||
Common recurrent secondary finding for t(8;21) (add reference). | Common recurrent secondary finding for t(8;21) (add reference). | ||
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|- | |- | ||
|NRAS | |NRAS | ||
| | |EXAMPLE: TSG | ||
|45% | |45% | ||
| | |EXAMPLE: IDH1 R123H | ||
| | |EXAMPLE: EGFR amplification | ||
| | | | ||
| | | | ||
| | | | ||
| | |EXAMPLE: Excludes hairy cell leukemia (HCL) (add reference). | ||
|- | |- | ||
|KRAS | |KRAS | ||
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|RUNX1 | |RUNX1 | ||
|RAS pathway<ref name=":2" /> | |RAS pathway<ref name=":2" /> | ||
| | |EXAMPLE: Increased cell growth and proliferation | ||
|- | |- | ||
| | |EXAMPLE: CDKN2A; Inactivating mutations | ||
| | |EXAMPLE: Cell cycle regulation | ||
| | |EXAMPLE: Unregulated cell division | ||
|- | |- | ||
| | |EXAMPLE: KMT2C and ARID1A; Inactivating mutations | ||
| | |EXAMPLE: Histone modification, chromatin remodeling | ||
| | |EXAMPLE: Abnormal gene expression program | ||
|} | |} | ||
==Genetic Diagnostic Testing Methods== | ==Genetic Diagnostic Testing Methods== | ||