| Jiaming Li,Sujiang Zhang. Gene mutations in a patient with chronic myelomonocytic leukemia and changes upon progression to acute myeloid leukemia and during treatment. Oncol Transl Med, 2019, 5: 30-32. |
| Gene mutations in a patient with chronic myelomonocytic leukemia and changes upon progression to acute myeloid leukemia and during treatment |
| Received:November 17, 2018 Revised:March 21, 2019 |
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| KeyWord:chronic myelomonocytic leukemia; acute myeloid leukemia; mutation; decitabine; bortezomib; platelets; SETD2; LILRB4 |
| Author Name | Affiliation | E-mail | | Jiaming Li | Ruijin Hospital North Affiliated with Shanghai Jiao Tong University School of Medicine | lijiaming007007@126.com | | Sujiang Zhang | Ruijin Hospital North Affiliated with Shanghai Jiao Tong University School of Medicine | zhangsjb1181@126.com |
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| Abstract: |
| Objective Chronic myelomonocytic leukemia (CMML) has been categorized as an uncommon
hematological malignancy with overlapping features of myelodysplastic syndromes (MDS) and
myeloproliferative neoplasms that have an inherent risk of progressing to acute myeloid leukemia (AML).
Methods This study presents a case of confirmed CMML combined with M protein, in which the molecular
changes upon progression to AML and under decitabine (DAC) plus bortezomib therapy were reported by
tracking variant allele frequency (VAF) of mutations in a series of bone marrow samples.
Results First, variable sensitivity of clones was observed during DAC treatment, and incomplete mutation
clearance may be associated with low overall response rate and unsustained response. Secondly, DAC
cannot prevent the new genetic alterations and accumulation of genetic progression on treatment, leading
to acute transformation. Finally, autoimmunity was found to have acted as an important pathogenetic factor,
increasing the additive mutations that further drive the clonal evolution in CMML.
Conclusion Overall, changes in mutations and clonal architecture during CMML progression or treatment
are predictive of an early evaluation of therapeutic strategies in CMML. |
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