Monitoring immunoglobulin heavy chain and T‑cell receptor gene rearrangement in cfDNA as minimal residual disease detection for patients with acute myeloid leukemia

Zhong,Ling; Chen,Jiao; Huang,Xiaobing; Li,Yanxing; Jiang,Tao

doi:10.3892/ol.2018.8966

Monitoring immunoglobulin heavy chain and T‑cell receptor gene rearrangement in cfDNA as minimal residual disease detection for patients with acute myeloid leukemia

Authors:
- Ling Zhong
- Jiao Chen
- Xiaobing Huang
- Yanxing Li
- Tao Jiang
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Affiliations: Department of Clinical Laboratory, Sichuan Academy of Medical Science, Sichuan Provincial People's Hospital, Chengdu, Sichuan 610072, P.R. China, Department of Hematology, Sichuan Academy of Medical Science, Sichuan Provincial People's Hospital, Chengdu, Sichuan 610072, P.R. China
Published online on: June 13, 2018 https://doi.org/10.3892/ol.2018.8966
Pages: 2279-2288
Copyright: © Zhong et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

The present study aimed to examine whether monoclonal immunoglobulin heavy chain (IGH) or T‑cell receptor (TCR) gene rearrangement in cell‑free DNA (cfDNA) may be used for minimal residual disease (MRD) monitoring in patients with acute myeloid leukemia (AML). Monoclonal IGH and TCR rearrangement in cfDNA were monitored in patients with AML. A total of 94 (40%) patients had monoclonal IGH or TCR rearrangements in cfDNA at diagnosis; 84% of these patients (79 cases) achieved complete remission following 1‑3 courses of induction chemotherapy. Among these cases, 89.9% were negative for monoclonal IGH or TCR rearrangement in cfDNA following consolidation chemotherapies. A total of 8 patients with consistently positive monoclonal IGH or TCR rearrangement in cfDNA relapsed within 6‑10 months. During follow up, 39 patients demonstrated positive monoclonal IGH or TCR rearrangement in cfDNA and relapsed. Recurrence of monoclonal IGH or TCR rearrangement in cfDNA was observed 1‑3 months earlier than bone marrow relapse and 11 patients with solitary extramedullary relapse demonstrated positive monoclonal IGH or TCR rearrangement recurrence in cfDNA. In conclusion, the detection of monoclonal IGH and TCR rearrangement in cfDNA may represent a useful tool for MRD monitoring in patients with AML.

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