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p210BCR‐ABL1‐ Chronic myeloid leukemia presents with monocytosis

Abstract Rare cases of CML present with monocytosis as well as morphologic dysplasia and harbor p210BCR‐ABL1. Cytogenetic and molecular studies must be performed to confirm the diagnosis of this kind of CML.

transcript. 2,3 Here, we report a rare case of p210 BCR-ABL1 CML that presents with monocytosis and dysplasia.
Other mutations commonly seen in CMML such as TET2 and SRSF2 were negative.
Following the diagnosis of CML, the patient received imatinib in combined with decitabine, homoharringtonine, and cytarabine. After three cycles of treatment, minimal residual disease was detected with p210 BCR-ABL1 transcript level of 16%. The patient then underwent allogeneic stem cell transplant and is currently under complete remission, 30 days after the transplant.

| DISCUSSION
Monocytosis and morphologic dysplasia are common morphological features in CMML. In this study, we present a case of CML with monocytosis and dysplasia as the initial presentation. Monocytosis in CML is rare, and monocytosis accompanied with morphologic dysplasia is even rarer. The differential diagnosis between CML and CMML in this scenario can be challenging. Karyotyping and/or molecular studies for BCR-ABL1 are essentially required for the correct diagnosis. p190 BCR-ABL1 in CML is often associated with monocytosis. In the case described here, monocytosis is associated with p210 BCR-ABL1 . The association between monocytosis and p210 BCR-ABL1 is rarely reported previously. 5 Mutation analysis using next-generation sequence (NGS) in our case showed RUNX1 and ASXL1 mutations. RUNX1 mutation has been reported as a key genomic event during CML disease progression, 6 and ASXL1 mutations were associated with a poor prognosis. 7 ASXL1 is also a common mutated gene in CMML. Whether ASXL1 mutation is associated with monocytosis in our CML case is uncertain but worth further investigation.

| CONCLUSION
Rare cases of CML harbored p210 BCR-ABL1 presented with monocytosis and dysplasia at initial diagnosis. It is important F I G U R E 1 Left: peripheral blood (PB) smear shows monocytosis (blue arrows) and some monocytes are atypical. Right: bone marrow (BM) smear shows increased myeloblast (red arrow) and monocytes (blue arrows). Cells in myeloid lineage show hypergranulation (black arrows) and cytoplasmic vacuolization (brown arrow). Some mature neutrophils are hypoloabted (green arrow) to perform karyotyping and/or molecular studies to confirm the diagnosis for further TKIs targeted therapy. Stem cell transplantation will be considered if patients cannot get remission after conventional therapy.