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==Common Alteration Types==

==Common Alteration Types==

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A mutational hotspot at Arg882, within the catalytic region, is reported in the context of AML, MDS, T-ALL/lymphoma. Much less common hotspots are Gly543 and Arg736, which are only reported in AML. Nonsense variants have been reported in the context of AML, MDS, and T-ALL/lymphoma, but are much more commonly seen in the context of T-ALL/lymphoma. Frameshift variants are more common in MDS and T-ALL/lymphoma than AML [1].

 

As mentioned previously, it is postulated that certain levels of functional loss, based on the presence of compound heterozygosity, the type and site of variants, the interaction of other proteins and residual wild-type expression levels contribute to the development of myeloid versus lymphoid malignancies. Biallelic variants are more common in the absence of an Arg882 variant. ''FLT3''-ITD, ''NPM1'' and ''IDH1'' cooperating mutations are seen in the context of AML; ''SF3B1'' and ''U2AF1'' cooperating mutations in the context of MDS; ''IDH1'' and ''IDH2'' variants in isolation are associated with MPN; ''TET2'', ''IDH2'' and ''RHOA'' are associated with PTCL.  See Figure 2 in [1]. Cooperating variants are not usually seen in the context of ''DNMT3A''-mutated T-ALL, but ''DNMT3A'' biallelic variants are more commonly seen in T-ALL. Biallelic ''DNMT3A'' variants are rare in PTCL [1].

 

{| class="wikitable sortable"

{| class="wikitable sortable"

! Copy Number Loss  !! Copy Number Gain  !!  LOH  !!  Loss-of-Function Mutation  !!  Gain-of-Function Mutation  !!  Translocation/Fusion  

! Copy Number Loss  !! Copy Number Gain  !!  LOH  !!  Loss-of-Function Mutation  !!  Gain-of-Function Mutation  !!  Translocation/Fusion  

|-

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| EXAMPLE: X ||EXAMPLE: X || EXAMPLE: X || EXAMPLE: X || EXAMPLE: X || EXAMPLE: X

| ||  ||  || X || ||  

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