TY - JOUR T1 - Unusual Karyotype in Acute Myelomonocitic Leukemia: A Case Report JF - Anticancer Research JO - Anticancer Res SP - 4329 LP - 4332 DO - 10.21873/anticanres.13599 VL - 39 IS - 8 AU - MARIA LETIZIA CONSOLI AU - ALESSANDRA ROMANO AU - NUNZIATINA LAURA PARRINELLO AU - LOREDANA TAMBÈ AU - MARIA ANNA ROMEO AU - DOMENICO SALEMI AU - ALESSANDRA SANTORO AU - FRANCESCO DI RAIMONDO Y1 - 2019/08/01 UR - http://ar.iiarjournals.org/content/39/8/4329.abstract N2 - Background/Aim: Acute myeloid leukemia is well characterized by chromosomal aberrations that correspond to various subtypes of acute leukemias. The t(8;21)(q22;q22) is a frequent chromosomal abnormality strongly associated with acute myeloblastic leukemia with maturation (AML-M2), but is rarely associated with other subtypes. Translocation involving a third chromosome could produce new genetic rearrangements that lead to leukemogenesis. Patients and Methods: Conventional cytogenetic analysis and fluorescence in situ hybridization (FISH) were performed to identify the karyotype. Reverse transcriptase polymerase chain reaction (RT-PCR) was used to detect the AML1/ETO transcript. Results/Conclusion: We herein report a novel rearrangement with a three-way translocation involving chromosomes 8, 21 and another unknown chromosome, in an 83-year-old female patient diagnosed as AML-M4, with an ALM1/ETO negative transcript. This is an uncommon case of AML-M4 with three-way translocation in a new variant of t(8;21) acute myeloid leukaemia. The detailed mechanism of different phenotype expression is unclear. Further study is needed to identify the leukemogenetic transformation resulting from t(8;21) translocation. ER -