I have a 78 year old male with no significant PMH and a normal performance functional status, who I followed since 2022 for mild to moderate, initially neutropenia, but now pancytopenia. His recent blood counts from mid May were hemoglobin 9.5 g/dL, platelets 87,000/l; ANC 1000. I did a bone marrow biopsy that showed signifiant hypercellular marrow with 4% blasts with left shift granulocytic hyperplasia; positive for TET2, ASXL-1, RUNX1 , and translocation (2:21). I'm treating as high risk IPSS-R score 5 MDS, with inqovi, yet to assess response. I was not sure of the signficiance of the 2:21 translocation if part of AML spectrum or not. Any thoughts on that? How would you approach treatment in a similar case.
Great question. I think your treatment strategy is appropriate. This would be a rare translocation event in either MDS or AML. I looked it up to confirm as well and I don't think the 2;21 would be AML defining unless there was perhaps a third chromosomal partner in ch8, which doesn't appear to be the case here. Assuming the patient is close to his 6th cycle of HMA, it may be appropriate to perform a BMBx after then to assess for response. If none is observed then the addition of venetoclax may be an option if his PS is still good. We use HMA+Venetoclax frequently for our MDS patients who are R/R to HMA monotherapy with pretty good outcomes.
