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Genomic and Clinicopathologic Features of Primary Myelofibrosis With Isolated 13q Deletion
Meenakshi Mehrotra1, Keyur P Patel1, Tianjian Chen2
1Department of Hematopathology, The University of Texas M.D. Anderson Cancer Center, Houston, TX.
Background:
Primary myelofibrosis (PMF) is a rare myeloproliferative stem cell disorder. The genomic features in PMF are poorly understood. Characterization of genomic alternations in PMF helps to determine their association with clinicopathologic features for further therapeutic implications.
Patients And Methods:
In this retrospective study, we investigated genomic changes using array-based comparative genomic hybridization (aCGH) in 17 PMF patients with isolated del(13q) and confirmed our aCGH findings with quantitative polymerase chain reaction (PCR) assay. We also compared the clinicopathologic features of patients with del(13q) (n = 17) with those of patients with a normal karyotype (NK) (n = 26).
Results:
Clinicopathologically, del(13q) PMF patients had significantly higher blast counts (P = .03) than did NK patients, who had significantly higher marrow cellularity (P = .02). The degree of bone marrow fibrosis of PMF-3 was higher in the del(13q) group than in the NK group. Splenomegaly was present significantly more often in the del(13q) PMF group than in the NK group (P = .03). Genomically, the Janus Kinase 2 V617F mutation was observed less often in del(13q) PMF patients (P = .07). The common deleted region in del(13q) was confined to 13q13-13q14.3 according to G-band karyotyping, demonstrating a minimal deleted region (MDR) of 15.323 Mb, identified using aCGH. The tumor suppressor genes, Retinoblastoma, Forkhead box protein O1, and Succinyl -CoA ligase [ADP-forming] subunit beta in the MDR were deleted, confirmed using real-time PCR to confirm our aCGH findings.
Conclusion:
Accurate molecular characterization of del(13q) in PMF using aCGH and quantitative PCR provided further insight to define the MDR and analyze the genomic changes in del(13q) PMF patients.
Insights
This study reveals that deletion 13q in primary myelofibrosis (PMF) is linked to increased blast counts and splenomegaly. Array-based comparative genomic hybridization (aCGH) precisely identified the minimal deleted region (MDR) in del(13q) PMF.
Area of Science:
- Hematology
- Genetics
- Oncology
Background:
- Primary myelofibrosis (PMF) is a rare myeloproliferative neoplasm with poorly understood genomic features.
- Characterizing genomic alterations in PMF is crucial for understanding disease progression and developing targeted therapies.
Purpose of the Study:
- To investigate the genomic landscape of PMF patients with isolated deletion 13q (del(13q)).
- To correlate genomic findings with clinicopathologic features and identify the minimal deleted region (MDR) in del(13q) PMF.
Main Methods:
- Retrospective analysis of 17 PMF patients with del(13q) using array-based comparative genomic hybridization (aCGH).
- Confirmation of aCGH findings with quantitative polymerase chain reaction (PCR).
- Comparison of clinicopathologic features between del(13q) PMF patients and those with normal karyotype (NK).
Main Results:
- del(13q) PMF patients exhibited significantly higher blast counts and splenomegaly compared to NK patients.
- The MDR in del(13q) PMF was localized to 13q13-13q14.3, encompassing tumor suppressor genes.
- Janus Kinase 2 V617F mutation was less frequent in del(13q) PMF patients.
Conclusions:
- Molecular characterization of del(13q) in PMF using aCGH and PCR enhances understanding of genomic alterations.
- This study defines the MDR in del(13q) PMF, providing insights for potential therapeutic strategies.
