Patient characteristics and MTHFR genotype status
A total of 242 patients were identified as being treated at our
institution on treatment protocols for ALL between January 2012 and
March 2021. Table 1 summarizes patient characteristics. We excluded 38
patients with relapsed or refractory disease who did not receive
standard upfront therapy. Genetic testing for MTHFR SNPs was performed
in 46 patients, with 33 resulting positive for a known variant. Of
these, 8 patients were reported to be heterozygous for the C677T SNP
(677CT), 9 were homozygous for the C677T SNP (677TT), 9 were
heterozygous for both the C677T and A1298C SNPs (also known as compound
heterozygous; 677CT/1298AC), 6 were heterozygous for the A1298C SNP only
(1298AC), and 1 did not report a specific SNP. Interestingly, no
patients homozygous for the A1298C SNP (1298CC) were identified. An
additional 158 patients were not evaluated for MTHFR SNPs and in
combination with subjects with the wildtype MTHFR genotype were
evaluated as a control group for comparison.