Reemergence of translocation t(11;19)(q23;p13.1) in the absence of clinically overt leukemia

Suguru Uemura, Akihiro Tamura, Atsuro Saito, Daiichiro Hasegawa, Nanako Nino, Takehito Yokoi, Teppei Tahara, Aiko Kozaki, Kenji Kishimoto, Toshiaki Ishida, Keiichiro Kawasaki, Takeshi Mori, Noriyuki Nishimura, Minenori Ishimae, Mariko Eguchi, Yoshiyuki Kosaka

We report the case of a 10-year-old female with acute myeloid leukemia (AML) FAB M0 carrying a novel t(11;19)(q23;p13.1) MLL-ELL variant, in which intron 8 of MLL is fused to exon 6 of ELL. Complete remission, judged by morphology and cytogenetic analysis, was achieved after the conventional chemotherapy. Eight months after completion of therapy, the level of WT-1 in peripheral blood and the number of cells with the MLL-ELL fusion transcript resurged. However, the patient remained overtly healthy and the morphology in the bone-marrow smear was innocuous, with no sign of relapse or secondary leukemia. Without any evidence of relapse, the patient has been closely observed without any therapeutic intervention. For approximately 2 years after the completion of therapy, despite clonal proliferation of pre-leukemic cells with an MLL-ELL fusion gene, she has maintained complete remission. In this case, the rare variant form of MLL-ELL fusion that has been identified may be related to diminished leukemogenic capacity, resulting in the persistence of pre-leukemic status; an additional genetic abnormality may thus be necessary for full transformation of pre-leukemic cells.