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- Title
The significance of genetic mutations and their prognostic impact on patients with incidental finding of isolated del(20q) in bone marrow without morphologic evidence of a myeloid neoplasm.
- Authors
Ravindran, Aishwarya; He, Rong; Ketterling, Rhett P.; Jawad, Majd D.; Chen, Dong; Oliveira, Jennifer L.; Nguyen, Phuong L.; Viswanatha, David S.; Reichard, Kaaren K.; Hoyer, James D.; Go, Ronald S.; Shi, Min
- Abstract
Patients with a sole del(20q) chromosomal abnormality and without morphologic features of a myeloid neoplasm (MN) have shown variable clinical outcomes. To explore the potential risk stratification markers in this group of patients, we evaluated their genetic mutational landscape by a 35-gene MN-focused next-generation sequencing (NGS) panel and examined the association of mutations to progression of MNs. Our study included 56 patients over a 10-year period with isolated del(20q), of whom 23 (41.1%) harbored at least one mutation. With a median follow-up of 32.6 months (range: 0.1−159.1), 9 of 23 patients with mutation(s) progressed to MNs, while all 33 patients without mutations did not progress to MN. Kaplan−Meier survival analysis demonstrated the presence of mutation(s) as a significant risk factor for progression to MN (P < 0.0001). MN progression was strongly associated with the presence of non-DNMT3A/TET2/ASXL1 epigenetic modifiers and nonspliceosome mutations (P = 0.003). There was no significant difference among patients with and without MN progression with respect to the number of mutations, variant allele frequency, percentage of del(20q), and other clinical/laboratory variables. This study illustrates the underlying genetic heterogeneity and complexity of isolated del(20q), and underscores the prognostic value of NGS mutational analysis in these cases.
- Subjects
GENETIC mutation; PATIENTS; BONE marrow; BIOMARKERS; GENE frequency
- Publication
Blood Cancer Journal, 2020, Vol 10, Issue 1, p1
- ISSN
2044-5385
- Publication type
Article
- DOI
10.1038/s41408-020-0275-8