The ETV6/RUNX1 (TEL/AML1) gene fusion is the most common gene rearrangement in childhood B-cell progenitor acute lymphoblastic leukemia (BCP-ALL) that occurs in 19–27% of cases [1]. This gene fusion is caused by the t(12;21)(p13;q22) mutation, which results in a chimeric protein that acts as a trans-dominant repressor of RUNX1regulated target genes [2]. This translocation usually escapes banding cytogenetics, and molecular techniques such as reverse transcriptase polymerase chain reaction (RT-PCR) or fluorescence in situ hybridization (FISH) are useful for its detection [3]. Several studies have shown that ETV6/RUNX1 confers a favorable prognosis in childhood ALL [1]. However, other investigators have shown incidence of the ETV6/RUNX1 in relapsed ALL [4–6]. In addition, most cases of childhood BCP-ALL with the ETV6/RUNX1 fusion relapse late. Features of ETV6/RUNX1 associated with poor prognosis include two copies of the fusion signal, loss of second ETV6 signal and loss of the second RUNX1 or extra signal, near-tetraploid modal number, or a complex karyotype [7]. As cases of BCP-ALL often show poor chromosome morphology, assessing the molecular heterogeneity of ALL cases with the ETV6/RUNX1 fusion requires highly sensitive methods, such as FISHbanding [8]. In the present report, we describe banding and molecular cytogenetic analyses of a childhood BCP-ALL case with t(12;21) harboring a novel three-way molecular variant involving chromosome 11. The patient is a 13-year-old girl admitted to the Hematology Service in Clementino Fraga Filho University Hospital (HUCCF), Rio de Janeiro. On admission, she presented a history of two months of joint pain in the legs, spine (thoracolumbar), right knee, and left shoulder. These symptoms progressed, with fever, epistaxis, and petechial rash in shoulder and legs. Physical examination showed remarkable hepatomegaly (the liver was 10 cm below the right costal margin) and splenomegaly (the spleen was 6 cm below the left costal margin). White blood cell (WBC) count was 26.7 9 10/L, and platelet count was 18 9 10/L. Morphologic evaluation of bone marrow contents showed hypercellularity with 80% blast cells and lymphoid characteristics. Flow cytometry analysis revealed blasts that expressed CD19, CD10, CD20, cIgM, CD79a, and HLADR. Immunohistochemistry analysis revealed 80% of Ki-67 expression. The final diagnosis was BCP-ALL. RT-PCR analysis revealed the ETV6/RUNX1 fusion. The patient was treated according to the hyper-CVAD protocol [9], which resulted in complete remission achieved on day 15 of the treatment. The patient has remained in remission for more than 10 months. Cytogenetic G-banding studies at the time of D. R. Ney-Garcia M. T. de Souza R. R. C. de Matos M. L. M. Silva (&) Cytogenetics Department, Bone Marrow Unit (CEMO), The National Cancer Institute (INCA), Praca da Cruz Vermelha, 23 – 68 floor, Rio de Janeiro, RJ 20.230-130, Brazil e-mail: luizamacedo@inca.gov.br
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