An Abnormal Clone with a der(12;22)(q10;q10) as a Rare Abnormality Within the Context of dup(1)(q25q43), Deletion of ABL1 and a t(8;21) in a Pediatric Male Patient with Acute Myeloid Leukemia.

内容摘要

We describe a case of a 13-year-old male who presented with fatigue, loss of appetite, and weakness. Flow cytometric analysis of the bone marrow aspirate demonstrated an abnormal population of myeloid blasts, comprising approximately 48% of total events, suggesting acute myeloid leukemia (AML). The cells express CD45(dim+), CD34(+), CD117(+), CD33(+), CD13(dim+), HLADR(+), CD38(+), CD123(weak+), CD11b(weak+), CD15(dim+), CD64(variable+), CD14(weak+), CD4(dim+), CD56(variable+), CD7(weak+), CD11c(+), CD65(dim+), CD9(-), and MPO(+) suggesting acute myeloid leukemia. This particular pattern with a t(8;21) is seen in 15-18% of AML cases. Although it's in the favorable risk stratification category (NCCN Clinical Practice Guidelines 2023), the presence of complex abnormalities, including 1q+, deletion of 12p, and a der(12;22), suggests genomic instability and poor prognosis. The patient died six months post-transplant.