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Unmasking Additional Mutations: A Single Institution Study in Myeloproliferative Neoplasms
Parastou Tizro1, Eric Vail2, Manoj Sapkota3
1Department of Pathology and Laboratory Medicine, City of Hope Comprehensive Cancer Center, Duarte, CA 91010, USA.
Cancers
|August 13, 2026
Summary
Comprehensive next-generation sequencing (NGS) in myeloproliferative neoplasms (MPNs) reveals significant additional mutations beyond common drivers. This genomic information aids in diagnosis, risk stratification, and personalized treatment strategies for MPN patients.
Area of Science:
- Hematology
- Oncology
- Genetics
Background:
- Myeloproliferative neoplasms (MPNs) are heterogeneous myeloid malignancies.
- Routine molecular testing often misses additional driver and non-driver mutations.
- These underreported mutations have significant diagnostic and prognostic value.
Purpose of the Study:
- To evaluate the clinical utility of comprehensive next-generation sequencing (NGS) in MPN diagnosis.
- To identify additional pathogenic mutations beyond canonical drivers.
- To assess the impact of comprehensive genomic profiling on disease classification and patient management.
Main Methods:
- Retrospective analysis of 1209 patients with suspected or established MPNs.
- Utilized a comprehensive 75-gene DNA/RNA next-generation sequencing (NGS) panel on peripheral blood samples.
- Compared NGS findings with routine molecular evaluations.
Main Results:
- Canonical driver alterations were found in 141 patients; 1068 were driver-negative.
- 251 patients (21%) had additional pathogenic mutations not routinely reported.
- 40% of driver-positive and 18% of driver-negative patients harbored clinically relevant co-mutations, including high-risk genes.
- High concordance (R² = 0.87) was observed between peripheral blood and bone marrow molecular findings.
Conclusions:
- Comprehensive NGS provides crucial genomic data beyond canonical drivers in MPNs.
- This approach enhances disease classification and risk stratification.
- Early comprehensive genomic profiling facilitates personalized diagnosis and management of MPN patients.
