Genomic landscape of immune checkpoint inhibitor-induced aplastic anemia: a case report

Hematological immune-related adverse events caused by immunotherapy are relatively uncommon. Aplastic anemia triggered by immune checkpoint inhibition is rare and its genomic characteristic remains largely unexplored. This case report describes a 42-year-old female with metastatic cervical cancer who experienced aplastic anemia caused by pembrolizumab. Through a nationwide genomic screening study, MONSTAR-SCREEN-2, we examined genomic landscape of biopsied tissue and circulating tumor DNA. The patient harbored human leukocyte antigen-A*0201 haplotype, which is known as a risk allele of idiopathic acquired aplastic anemia. Clonal hematopoiesis (CH) of myeloid cancer candidate gene DNMT3A c.1429 + 1G>A was newly detected in the buffy-coated white blood cell sample at the time of aplastic anemia diagnosis. This case report contributes to further progress of genomic research of immune-related aplastic anemia.