Related Experiment Video
Updated: Apr 29, 2026
Flow Cytometry to Estimate Leukemia Stem Cells in Primary Acute Myeloid Leukemia and in Patient-derived-xenografts, at Diagnosis and Follow Up
Published on: March 26, 2018
[Molecular characterization of atypical chronic myeloid leukemia and chronic neutrophilic leukemia]
Alicia Senín1, Leonor Arenillas2, Luz Martínez-Avilés3
1Servicio de Hematología, Hospital del Mar-IMIM, Parc de Salut Mar, Universitat Autónoma de Barcelona, Barcelona, España.
Insights
SETBP1 and CSF3R mutations were found in unclassifiable myeloproliferative neoplasms and chronic neutrophilic leukemia, but not in atypical chronic myeloid leukemia. These molecular findings may impact diagnosis and treatment.
Area of Science:
- Hematology
- Molecular Biology
- Oncology
Background:
- Atypical chronic myeloid leukemia (aCML) and chronic neutrophilic leukemia (CNL) share clinical and hematological features.
- Distinguishing between aCML and CNL can be challenging.
- Investigating specific gene mutations aids in classifying these rare myeloid neoplasms.
Observation:
- SETBP1 and CSF3R mutational status was analyzed in 7 patients: 3 aCML, 1 CNL, and 3 unclassifiable myeloproliferative neoplasms (MPN-u).
- Additional mutations in ASXL1, SRSF2, IDH1/2, DNMT3A, and RUNX1 were also assessed.
- SETBP1 mutations (G870S, G872R) were identified in 2 MPN-u patients.
Findings:
- The CNL case exhibited mutations in CSF3R (T618I), SETBP1 (G870S), and SRSF2 (P95H).
- One MPN-u patient with SETBP1 mutations also had SRSF2 (P95H) and ASXL1 (E635fs) mutations.
- No SETBP1 or CSF3R mutations were found in the aCML cohort.
Implications:
- Mutations in SETBP1 and CSF3R are associated with CNL and MPN-u, but not aCML.
- Disease progression was observed in patients with these mutations, with one evolving to acute myeloid leukemia.
- Understanding these molecular alterations is crucial for accurate diagnosis, prognosis, and therapeutic strategies in rare myeloid neoplasms.
Background And Objective:
Atypical chronic myeloid leukemia (aCML) and chronic neutrophilic leukemia (CNL) display similar clinical and hematological characteristics. The objective of the present study was to determine the mutational status of SETBP1 and CSF3R in these diseases.
Patients And Method:
The mutational status of SETBP1 and CSF3R was studied in 7 patients with aCML (n = 3), CNL (n = 1) and unclassifiable myeloproliferative neoplasms (MPN-u) (n = 3). Additionally, mutations in ASXL1, SRSF2, IDH1/2, DNMT3A, and RUNX1 were also analyzed.
Results:
SETBP1 mutations (G870S and G872R) were detected in 2 patients with MPN-u, and one of them also presented mutations in SRSF2 (P95H) and ASXL1 (E635fs). The CNL case showed mutations in CSFR3 (T618I), SETBP1 (G870S) and SRSF2 (P95H). No patient classified as aCML had mutations in SETBP1 or CSF3R. One of the patients with mutations evolved to acute myeloid leukemia, while the other 2 had disease progression without transformation to overt leukemia.
Conclusion:
The knowledge of the molecular alterations involved in these rare diseases is useful in the diagnosis and may have an impact on both prognosis and therapy.
