Researchers presented the case study of a patient with advanced systemic mastocytosis with associated eosinophilia who was treated with patient-specific induced pluripotent stem cells, according to a letter to the editor published in the Annals of Hematology.

The case was that of a 45-year-old man diagnosed with mast cell leukemia in 2018 and was referred to another center in 2019. Blood investigations revealed 80% mast cell infiltration in the bone marrow, as well as leukocytosis (white blood cells, 19,000/µl) with eosinophilia (51.4%) and anemia (hemoglobin, 8.1 g/dL). Next-generation sequencing was performed, revealing KITS4761 and KRASG12V mutations. 

“Fluorescent in situ hybridization (FISH) analysis revealed a PDGFRß rearrangement (5q32) in 1% of the interphases, while cytogenetics showed a normal male karyotype (46,XY),” the authors of the study wrote. 

The patient’s physicians started him on midostaurin, imatinib, and ripretinib, but he achieved only brief periods of clinical improvement. In July 2019, he received 2 cycles of cladribine, resulting in partial remission. He was considered a candidate for allogeneic stem cell transplantation but was lost to follow-up during the coronavirus disease 2019 (COVID-19) pandemic. 

Read more about systemic mastocytosis etiology

In May 2020, the patient presented with progressive mast cell leukemia and underwent allogeneic stem cell transplantation after 3 cycles of cladribine failed to produce any significant improvement. Fifty days after the transplant, bone marrow biopsy showed 78% mast cells. A few days later, the patient died from multiorgan dysfunction. 

This case study demonstrates that the generation of induced pluripotent stem cells for the treatment of this patient was both feasible and effective. Within 2.5 months, his physicians were able to obtain an induced pluripotent stem cell-derived patient-specific drug response. 

“This highlights [induced pluripotent stem cells] as a powerful tool for personalized medicine in oncological hematology when anti-malignant treatment options are exhausted,” the authors of the study wrote. 


Atakhanov S, Christen D, Rolles B, et al. Towards personalized medicine with iPS cell technology: a case report of advanced systemic mastocytosis with associated eosinophiliaAnn Hematol. Published online September 20, 2022. doi:10.1007/s00277-022-04975-9