Disease-Specific Template: Difference between revisions
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==Chromosomal Rearrangements (Gene Fusions)== | ==Chromosomal Rearrangements (Gene Fusions)== | ||
Put your text here and | Put your text here and fill in the table | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
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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). | ||
|- | |||
|EXAMPLE | |||
8 | |||
|EXAMPLE Gain | |||
|EXAMPLE | |||
chr8:1-145,138,636 [hg38] | |||
|EXAMPLE | |||
chr8 | |||
|No | |||
|No | |||
|No | |||
|EXAMPLE | |||
Common recurrent secondary finding for t(8;21) (add reference). | |||
|} | |} | ||
==Characteristic Chromosomal Patterns== | ==Characteristic Chromosomal Patterns== | ||
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|- | |- | ||
!Gene; Genetic Alteration!!'''Presumed Mechanism (Tumor Suppressor Gene | !Gene; Genetic Alteration!!'''Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other)'''!!'''Prevalence (COSMIC / TCGA / Other)'''!!'''Concomitant Mutations'''!!'''Mutually Exclusive Mutations''' | ||
!'''Diagnostic Significance (Yes, No or Unknown)''' | !'''Diagnostic Significance (Yes, No or Unknown)''' | ||
!Prognostic Significance (Yes, No or Unknown) | !Prognostic Significance (Yes, No or Unknown) | ||
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|- | |- | ||
|EXAMPLE: BRAF and MAP2K1; Activating mutations | |EXAMPLE: BRAF and MAP2K1; Activating mutations | ||
|EXAMPLE: MAPK signaling | |EXAMPLE: MAPK signaling | ||
|EXAMPLE: Increased cell growth and proliferation | |EXAMPLE: Increased cell growth and proliferation | ||
|- | |||
EXAMPLE: Unregulated cell division | |EXAMPLE: CDKN2A; Inactivating mutations | ||
|EXAMPLE: Cell cycle regulation | |||
EXAMPLE: Abnormal gene expression program | |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== | ||