What question did this study set out to answer?

To assess the diagnostic and prognostic utility of ultra-deep error-corrected targeted sequencing for identifying low-frequency subclonal mutations in myeloproliferative neoplasms.

August 16, 2026CancersOpen Access

Comprehensive High-Sensitivity Mutation Profiling in MPNs: Diagnostic and Prognostic Implications

View Full Paper

Ask AI

Bookmark

Authors

NKNamsoo Kim YKYehyun Kang HKHye Won Kook

Discussion

Member takes

Overview

Observational study reveals low-frequency clonal mutations across myeloproliferative neoplasms, highlighting the diagnostic utility of ultra-deep error-corrected sequencing.

Key Points

To assess the diagnostic and prognostic utility of ultra-deep error-corrected targeted sequencing for identifying low-frequency subclonal mutations in myeloproliferative neoplasms.
Analyzed bone marrow and peripheral blood samples from 134 patients with essential thrombocythemia, polycythemia vera, primary myelofibrosis, secondary myelofibrosis, or post-MPN acute leukemia.
Applied ultra-deep targeted panel sequencing with an error-correction algorithm to identify disease-associated driver and low-variant-allele-frequency mutations.
Detected low-VAF (<5%) variants in 4/16 (25%) CALR, 3/7 (43%) MPL, and 9/11 (82%) TP53 mutations, while all TP53 mutations found at leukemic transformation expanded to VAFs >5%.
JAK2 p.V617F VAFs differed significantly by treatment status (p = 0.0138 by Kruskal–Wallis test), with lower VAFs observed in untreated patients.

Cite This Study

Kim et al. (2026) studied this question.

synapsesocial.com/papers/6a817a33f2fb91fc834add55 https://doi.org/10.3390/cancers18162632

View Full Paper

Ask AI

Bookmark

August 16, 2026CancersOpen Access

Comprehensive High-Sensitivity Mutation Profiling in MPNs: Diagnostic and Prognostic Implications

View Full Paper

Ask AI

Bookmark

Authors

NKNamsoo Kim YKYehyun Kang HKHye Won Kook

Discussion

Member takes

Overview

Observational study reveals low-frequency clonal mutations across myeloproliferative neoplasms, highlighting the diagnostic utility of ultra-deep error-corrected sequencing.

Key Points

To assess the diagnostic and prognostic utility of ultra-deep error-corrected targeted sequencing for identifying low-frequency subclonal mutations in myeloproliferative neoplasms.
Analyzed bone marrow and peripheral blood samples from 134 patients with essential thrombocythemia, polycythemia vera, primary myelofibrosis, secondary myelofibrosis, or post-MPN acute leukemia.
Applied ultra-deep targeted panel sequencing with an error-correction algorithm to identify disease-associated driver and low-variant-allele-frequency mutations.
Detected low-VAF (<5%) variants in 4/16 (25%) CALR, 3/7 (43%) MPL, and 9/11 (82%) TP53 mutations, while all TP53 mutations found at leukemic transformation expanded to VAFs >5%.
JAK2 p.V617F VAFs differed significantly by treatment status (p = 0.0138 by Kruskal–Wallis test), with lower VAFs observed in untreated patients.

Cite This Study

Kim et al. (2026) studied this question.

synapsesocial.com/papers/6a817a33f2fb91fc834add55 https://doi.org/10.3390/cancers18162632

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

View Full Paper

Ask AI

Bookmark