CSF3R-mutant chronic myelomonocytic leukemia is a distinct clinically subset with abysmal prognosis: a case report and systematic review of the literature

Abstract

Chronic myelomonocytic leukemia (CMML) is a myelodysplastic syndrome/myeloproliferative neoplasm (MDS/MPN) chacaterized by persistent peripheral blood monocytosis, hypercellular bone marrow and dysplasia at least in one myeloid lineage. CMML shares much of its molecular landscape with other myeloid neoplasms, while differs from others such as chronic neutrophilic leukemia (CNL), given the high frequency of CSF3R mutations in the latter. In this article, we report a case of CSF3R-mutated CMML and dissect this rare entity by reviewing the medical literature, with the intent to understand how this rare mutation shapes CMML's clinical and morphological phenotype. CSF3R-mutated CMML emerges as a rare entity meeting the ICC/WHO diagnostic criteria for CMML and simultaneously showing clinical-pathological and molecular traits of CNL and atypical chronic myeloid leukemia, rising an important and difficult diagnostic and therapeutical issue.

Keywords:

• molecular genetics
• morphology
• myeloid leukemias and dysplasias
• myeloproliferative disorders
• stem and primitive progenitor cells
• granulocytes

Disclosure statement

No potential conflict of interest was reported by the author(s).

Data availability statement

Data are fully available upon the author’s request.

Table 1. Clinical-pathological data, treatment, and outcome of CSF3R-mutant CMML patients.

Additional information

Funding

The author(s) reported there is no funding associated with the work featured in this article.