Molecular diagnostic testing patterns in patients (pts) with myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML) in the Connect MDS/AML Registry.
Authors: Tracy George, Jay L. Patel, Mehrdad Abedi, Christopher R. Cogle, Harry Paul Erba, Guillermo Garcia-Manero, David L. Grinblatt, Pavel Kiselev, Rami S. Komrokji, Chrystal Ursula Louis, Jaroslaw P. Maciejewski, Melissa Nifenecker, Daniel Aaron Pollyea, Gail J. Roboz, Michael R. Savona, Bart L. Scott, Mikkael A. Sekeres, David P. Steensma, Michael A. Thompson, Kathryn Foucar
Journal: Journal of Clinical Oncology (2020)

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 (&lt; 2017), 16.8% had molecular testing, increasing to 40.2% in 420 MDS pts enrolled from 2017 onward (≥ 2017). Of 289 AML pts enrolled &lt; 2017, 68.9% had molecular testing, increasing to 84.9% in 337 AML pts enrolled ≥ 2017. Mean number of mutations tested increased between &lt; 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 &lt; 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 &lt; 75 (vs ≥ 75) yrs, ELN score ≥ 2 (vs 1) and enrollment at AC site (vs CO/GOV) (all P &lt; 0.01) in AML pts and age &lt; 80 (vs ≥ 80 yrs; P &lt; 0.01), AC site (vs CO/GOV; P &lt; 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.