Clinical Cases in Chronic Lymphocytic Leukemia - Episode 16

Case 4: A Patient With Relapsed/Refractory CLL


Anthony Mato, MD, MSCE:We’ve talked about frontline a lot—3 cases. I think we should also focus on relapsed/refractory setting, and I know you have a case.

Shuo Ma, MD, PhD:Here we have a 71-year-old woman who was diagnosed initially with CLL [chronic lymphocytic leukemia] in 2015 with a trisomy 12. At the time, she was asymptomatic, so she was monitored without treatment. In 2 years she started to develop gradual symptoms, including some intermittent fever, increasing fatigue, loss of appetite, and some weight loss. On exam, she was found to have increasing adenopathy. Lab showed starting to have some progressive cytopenias. At the time, FISH [fluorescence in situ hybridization] was repeated; she still had the trisomy 12 without any additional abnormalities. After discussion of treatment options, she was started on treatment with ibrutinib, standard dosage of 420 mg once a day.

She was doing well for about a 1½ years, then she started having progressive increasing lymphocytosis, cytopenias, and adenopathy. At that time, the suspicion was that the disease might be progressing. We sent out some tests to try to confirm whether she had developed ibrutinib resistance. Probably if you talk about what test we can do, but essentially the flow cytometry confirmed that she had relapsed CLL in the peripheral blood. HerIGVHwas confirmed to be mutated. FISH showed that she still had trisomy 12. However, now she had acquired a new mutation, which is aTP53mutation, a high-risk feature, which might be explaining her relatively short interval on the treatment. Her bone marrow biopsy showed that she had extensive involvement with CLL—84% in the bone marrow. At that point, we believe she had developed resistance to ibrutinib and this treatment was stopped.

Transcript edited for clarity.