Cryptic ETV6-PDGFRB fusion in a highly complex rearrangement of chromosomes 1, 5, and 12 due to a chromothripsis-like event in a myelodysplastic syndrome/myeloproliferative neoplasm (original) (raw)

Myelodysplastic syndromes/myeloproliferative neoplasms (MDS/MPN) are hematological malignancies with chromosomal abnormalities often detected by cytogenetic analysis. Recent findings suggest complex rearrangements can arise from chromothripsis, a process involving catastrophic chromosome breakage. A case report reveals a complex rearrangement involving chromosomes 1, 5, and 12, characterized by the cryptic fusion of ETV6 and PDGFRB, alongside multiple novel gene fusions. Mate pair next-generation sequencing was pivotal in uncovering these rearrangements, underlining its diagnostic significance and potential for informing targeted therapy in myeloid malignancies.