TY - JOUR AU - Pierre Hirsch, AU - Ruoping Tang, AU - Nassera Abermil, AU - Pascale Flandrin, AU - Hannah Moatti, AU - Fabrizia Favale, AU - Ludovic Suner, AU - Florence Lorre, AU - Christophe Marzac, AU - Fanny Fava, AU - Anne-Claire Mamez, AU - Simona Lapusan, AU - Françoise Isnard, AU - Mohamad Mohty, AU - Ollivier Legrand, AU - Luc Douay, AU - Chrystele Bilhou-Nabera, AU - François Delhommeau, PY - 2017/06/26 Y2 - 2024/03/28 TI - Precision and prognostic value of clone-specific minimal residual disease in acute myeloid leukemia JF - Haematologica JA - haematol VL - 102 IS - 7 SE - Articles DO - 10.3324/haematol.2016.159681 UR - https://haematologica.org/article/view/8129 SP - 1227-1237 AB - The genetic landscape of adult acute myeloid leukemias (AML) has been recently unraveled. However, due to their genetic heterogeneity, only a handful of markers are currently used for the evaluation of minimal residual disease (MRD). Recent studies using multi-target strategies indicate that detection of residual mutations in less than 5% of cells in complete remission is associated with a better survival. Here, in a series of 69 AMLs with known clonal architecture, we design a clone-specific strategy based on fluorescent in situ hybridization and high-sensitivity next generation sequencing to detect chromosomal aberrations and mutations, respectively, in follow-up samples. The combination of these techniques allows tracking chromosomal and genomic lesions down to 0.5–0.4% of the cell population in remission samples. By testing all lesions in follow-up samples from 65 of 69 evaluable patients, we find that initiating events often persist and appear to be, on their own, inappropriate markers to predict short-term relapse. In contrast, the persistence of two or more lesions in more than 0.4% of the cells from remission samples is strongly associated with lower leukemia-free and overall survivals in univariate and multivariate analyses. Although larger prospective studies are needed to extend these results, our data show that a personalized, clone-specific, MRD follow up strategy is feasible in the vast majority of AML cases. ER -