Case 2 Presentation: Lower-Risk MDS-RS With an SF3B1 Mutation


Dr Cluzeau introduces a second patient case of lower-risk MDS-RS with an SF3B1 mutation and symptomatic anemia, who received a first-line erythropoiesis-stimulating agent (ESA) and second-line luspatercept.


Rami Komrokji, MD: Thomas, I’ll ask you to present the second case that will lead us to more discussion about some of those options.

Thomas Cluzeau, MD, PhD: The second case will be easier.

Rami Komrokji, MD: That’s what you think.

Thomas Cluzeau, MD, PhD: This is a woman who’s 82 years old. Her medical history is diabetes, hypertension, and some surgery. She had received 2 RBC [red blood cell] transfusion due to symptomatic anemia. Her diagnosis is that she has only asthenia and dyspnea. She had a normal white blood count, a hemoglobin at 8.2 g/dL, and a normal platelet count. The serum EPO [erythropoietin] was 120 IU/L, and the bone marrow aspiration showed a 1% of myoblast, which was a normal cytogenetic. We found an SF2B1 mutation with the varietal frequency at 22%. The patient was diagnosed with myelodysplastic syndrome with multilineage dysplasia with ring sideroblasts, and her IPSS-R [International Prognostic Scoring System—Revised] was low risk. We decided to treat the patient with a high dose of erythropoietin-stimulating agent [ESA] first. We used darbepoetin 500 μg subcutaneous every 3 weeks. You can see that there was a little improvement.

The patient became transfusion dependent for 10 months, but only after it was a minor erythroid response, after the patient relapsed. You can see there’s transfusion dependency with 2 red blood cell transfusions per month. We decided to change the treatment. The patient had myelodysplastic syndrome with ring sideroblasts, an SF2B1 mutation, and non–del(5q), and she was in relapse after ESA. We proposed a luspatercept treatment. We started at the first dosage, and we increased the treatment every 2 months. You can see that there was no adverse effect. We increased the dose every 2 months, and the patient became transfusion independent. Also, with a minor erythroid response after 1 year, the patient had a transfusion but only 1 time. We continued the treatment, and the patient is still transfusion independent, even though she needed a new transfusion during the treatment.

Transcript edited for clarity.

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