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In conclusion, detecting two different NPM1 mutations at initial diagnosis and relapse in AML supports the model of a primary genetically instable hematopoietic stem cell with potential for gaining mutations in unique cell clones, eventually expanding in the clinical course.
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Fifty-eight mutations in 51 unique genes were found primarily in pathways of immunity and transcriptional regulation.
Of the remaining, mutations in six unique targets, tolC, rep, FTT0609, FTT1149c, ahpC, and hfq resulted in significantly prolonged time to death and mutations in nine targets, rplA, wbtI, iglB, iglD, purL, purF, ggt, kdtA, and glpX, led to marked attenuation with an LD50 of >103 CFU.
It has 1,302 mutations in the unique 939 samples.
They are caused by mutations in >30 unique genes that produce myofiber degeneration and atrophy.
Mutations in regions unique to Nef binding, notably σ2 R60E and α E342K, also eliminated binding.
This mapping procedure yielded a total of 3,256 pocket region mutations in 369 unique human proteins.
Searching the COSMIC (version 69) dataset, the gene TTN has 3,403 mutations in the unique 1,881 samples.
Finally, mutations of class VI comprise disease frame-shift mutations in the unique acidic ORF15 domain of the RPGRORF15 that cause its premature termination.
In contrast, resistance to Dp-1 in R6-DP1R resulted from mutations in a unique gene coding for a type IV restriction endonuclease.
Acute myeloid leukemia (AML) is a cancer type that contains mutations in a unique set of genes, which includes NPM1 (27%), FLT3 (26%), DNMT3A (25%), and IDH2 (10%).
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