Molecular diagnostic testing patterns in patients (pts) with myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML) in the Connect MDS/AML Registry.

Abstract

7553 Background: MDS and AML diagnosis requires an integrated approach including morphologic, cytogenetic and molecular testing. The WHO classification criteria for MDS and AML diagnosis were updated in 2016; however, the impact on clinical practice is unclear. We investigated molecular testing patterns for pts with MDS or AML treated in academic (AC) or community/government (CO/GOV)-based centers in the Connect MDS/AML Registry. Methods: The Connect MDS/AML Disease Registry (NCT01688011) is a large ongoing, US, multicenter, prospective observational cohort study of pts with MDS (aged ≥ 18 yrs) or AML (aged ≥ 55 yrs). Patient data were collected for this analysis upon enrollment from 12 Dec 2013 to 13 Dec 2019, the analysis cut-off. Differences in molecular testing between MDS and AML pts were evaluated and logistic regression used to assess factors associated with increased molecular testing. Results: As of 13 Dec 2019, 800 MDS pts and 626 AML pts were enrolled; median age was 74 vs 71 yrs, 66.3% vs 61.5% were male, and 73.5% vs 60.2% were insured by Medicare/Medicaid. A greater proportion of AML pts (77.5%) had molecular testing vs MDS pts (29.1%). Of 380 MDS pts enrolled before 2017 (< 2017), 16.8% had molecular testing, increasing to 40.2% in 420 MDS pts enrolled from 2017 onward (≥ 2017). Of 289 AML pts enrolled < 2017, 68.9% had molecular testing, increasing to 84.9% in 337 AML pts enrolled ≥ 2017. Mean number of mutations tested increased between < 2017 and ≥ 2017 from 6.9 to 12.7 in MDS pts and from 6.1 to 10.4 in AML pts. Of the 11 mutations most frequently tested ≥ 2017 in MDS and AML pts, 0% and 36%, respectively, have FDA-approved targeted therapies. Gene mutations tested differed between MDS and AML pts; ASXL1 was most frequently tested in MDS pts (68.2%) and FLT3-ITD in AML pts (89.7%). Testing rates increased between < 2017 and ≥ 2017 for ASXL1 from 48.4% to 75.7% in MDS pts and for FLT3-ITD from 84.4% to 93.4% in AML pts. Factors associated with increased testing were age < 75 (vs ≥ 75) yrs, ELN score ≥ 2 (vs 1) and enrollment at AC site (vs CO/GOV) (all P < 0.01) in AML pts and age < 80 (vs ≥ 80 yrs; P < 0.01), AC site (vs CO/GOV; P < 0.01), and geographic region outside the Midwest ( P = 0.015) in MDS pts. Conclusions: While molecular testing rates have increased since the publication of the WHO 2016 criteria, molecular testing rates for MDS pts remain lower than those for AML pts in real-world clinical practice. Elderly pts and pts enrolled in CO/GOV sites were found to have lower rates of molecular testing in both MDS and AML patient cohorts.