RUNX1

Certain cytogenetic abnormalities are particularly concerning.

Monosomy 7 or deletion 7q, gain of 3q, and abnormalities involving RUNX1 are associated with higher risk of progression to MDS or AML.

So if you see a patient with Fanconi anemia and new cytogenetic abnormalities, this should trigger evaluation at a specialized center rather than simply waiting for the blood counts to deteriorate.

Now how do we diagnose Fanconi anemia? The classic test is a chromosome breakage test.

And so it's fairly simple to remember because everything else is intermediate or poor risk.

The adverse molecular markers are TP53, particularly if it's biallelic, EZH2, HCV6, RUNX1, AS, uh, ASXL1, and biallelic TP53 is now its own high-risk entity and portends poor outcomes even after transplant.

Definitely.

And so do all MDS patients require treatment?

Definitely.

So remember the good risk features, hemoglobin over 10, platelet over 100, ANC over 0.8, blast under 2%, the good cytogenetics deletion 5q, deletion 11q, deletion 12p, deletion 20q, so that's 5, 11, 12, 20.

And remember that SF3B1 is favorable, that the adverse cytogenetics are TP53, EZH2, ETB6, RUNX1, ASXL1.

Use the IPSSR, um, and now there's also the IPSS-M.