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[Characterization of mutational pattern in patients with Ph negative myeloproliferative neoplasms]
1Department of Pathology and Lab Medicine, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS & PUMC), Tianjin 300020, China.
Objective:
To characterize the molecular profile in patients with Ph negative myeloproliferative neoplasms (MPN) by exploring 49 gene mutations.
Methods:
Targeted gene sequencing were performed to analyze 49 MPN-associated genes in 51 patients with Ph negative MPN, of which CARL (exon 9), NPM1 (exon 12) and CEBPA (TAD, BZIP domains) were investigated by using Sanger sequencing simultaneously, while FLT3-ITD was assessed by PCR method.
Results:
Mutations were detected in 73.5% (36/49) of genes, and the mutational rates of JAK2-V617F, CALR (exon 9) and MPL were 60.8%(31/51), 7.8%(4/51) and 7.8%(4/51) respectively, whereas the mutational rates of ASXL1, SETBP1, and SF3B1 were around 10%. In addition, 96.1% (49/51) of patients harbored at least one mutation, and more than half of the patients (52.9%, 27/51) possessed 3 or 4 gene mutations. The amount of gene mutations was significantly higher in patients with JAK2-V617F mutation than those without JAK2-V617F or CALR (exon 9) mutation (P<0.05). The last finding was that there was no statistically significant difference in the amount of mutations among four MPN subtypes (PV, ET, PMF, and MPN-U).
Conclusion:
Most patients with Ph negative MPN possesses three or more gene mutations, with various mutational profiles.
Insights
Most patients with Philadelphia chromosome-negative myeloproliferative neoplasms (MPN) have multiple gene mutations. This study characterized the molecular profiles of 51 MPN patients, revealing common mutations like JAK2-V617F.
Area of Science:
- Hematology
- Molecular Biology
- Oncology
Background:
- Philadelphia chromosome-negative myeloproliferative neoplasms (MPN) are a group of clonal hematopoietic stem cell disorders.
- Understanding the molecular landscape of MPN is crucial for diagnosis and treatment.
Purpose of the Study:
- To comprehensively characterize the molecular profile of patients with Philadelphia chromosome-negative MPN.
- To investigate the frequency and patterns of 49 gene mutations in this patient cohort.
Main Methods:
- Targeted gene sequencing was employed to analyze 49 MPN-associated genes in 51 patients.
- Specific genes like CALR, NPM1, CEBPA, and FLT3-ITD were analyzed using Sanger sequencing and PCR.
Main Results:
- Mutations were identified in 73.5% of analyzed genes, with JAK2-V617F (60.8%), CALR (7.8%), and MPL (7.8%) being the most frequent.
- Nearly all patients (96.1%) had at least one mutation, and over half (52.9%) harbored 3 or 4 mutations.
- The number of mutations was significantly higher in patients with JAK2-V617F mutations.
Conclusions:
- The majority of Philadelphia chromosome-negative MPN patients exhibit complex mutational profiles with three or more gene mutations.
- These findings highlight the genetic heterogeneity within MPN and the importance of multi-gene analysis.
