Although widely used, MSIPCR has been validated only for colorectal tumors (1, 14) and can have poor performance in malignancies derived from other tissues (15-17), likely reflecting differences in the mutational frequency
of microsatellite loci across cancer types (10, 11).
A mutational frequency
of 3.3% was revealed in the Middle and South Asian areas .
Previously, there were multiple computational methods to identify driver genes based on gene mutational frequency
(termed as frequency-based method) in a large cohort of cancer patients [11-13].
CSF3R T618I mutations were observed in 10 WHO-defined CNL cases, at a mutational frequency
of 83% (10/12), and were not seen in WHO-defined aCML, PMF (n=76), or CMML (n=94) cases.
The demographic details are presented along with the mutational frequency of the EGFR gene (Tables 1 and 2).
In alcohol habituals, the mutational frequency of SNPs was 75.36% in cases and 82% in controls.
The mutational frequency of the genotypes is presented in Table 4.
The mutational frequency observed among cases and controls was significant and showed an association with disease state.
The cell type classification also relates to differences in mutation frequency and pattern of TP53 (which codes for p53 protein).37 The hobnail cell type, characterized by cytoplasmic protrusions and a tadpole or hobnail appearance, shows a low TP53 mutational frequency, mainly of spontaneous transition type at CpG nucleotides.
(39,41) These clinicopathologic observations, accompanied by our findings of a high mutational frequency for EGFR, may explain the dramatic responses to gefitinib in lung adenocarcinomas with diffuse micronodular intrapulmonary metastasis.
The 36% frequency was similar to the KRAS mutational frequency
observed in other studies.
Our identification of an artifactual mutational frequency
in 1 of our patients with AML because of a concomitant SNP on the wild-type SF3B1 allele serves as a cautionary tale regarding this potential pitfall of cancer molecular diagnostics.