Abstract
Der(5;17)(p10;q10) is a recurrent but rare aberration reported in myeloid neoplasms (MNs). We report 48 such patients including 19 acute myeloid leukemia (AML) and 29 myelodysplastic syndrome (MDS), to characterize their clinicopathological features. There were 29 men and 19 women, with a median age of 61 years (range, 18-80). 62.5% patients had therapy-related diseases (t-MNs), 70.8% had multilineage dysplasia and 83.3% showed complex karyotypes. In 39 patients tested, FLT3, NPM1, CEBPA, KIT were all wild type and NRAS, KRAS, IDH1, APC, TET2 mutations were detected in single case(s) respectively. TP53 mutations were identified in 8 of 10 cases (80%) tested. Median disease-free survival (DFS) and overall survival (OS) were 3 and 10 months, respectively and did not differ between AML or MDS cases, or between de novo versus therapy-related cases, or between the groups with or without complex karyotypes. In 19 patients who achieved complete remission after chemotherapy, and in 9 patients who underwent stem cell transplantation, the OS was better (14 and 17.5 months, P = 0.0128 and P = 0.0086, respectively). The der(5;17)(p10;q10) represents a unique molecular-cytogenetic subgroup in t-MNs and, associated with complex karyotypes. TP53 inactivation, resulting from 17p deletion coupled with TP53 mutation, likely contributes to the poor clinical outcome of these patients.
Original language | English (US) |
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Pages (from-to) | 205-214 |
Number of pages | 10 |
Journal | Cancer Genetics |
Volume | 209 |
Issue number | 5 |
DOIs | |
State | Published - May 1 2016 |
Funding
The authors wish to acknowledge all the technologists in the Clinical Cytogenetics Laboratory at The University of Texas MD Anderson Cancer Center for their efforts related to this work. Dr. Ming Hong was partly supported by the Jiangsu Health International Exchange Program (China) .
Keywords
- Acute myeloid leukemia (AML)
- Complex karyotypes
- Der(5;17)
- Myelodysplastic syndrome (MDS)
- TP53
ASJC Scopus subject areas
- Molecular Biology
- Genetics
- Cancer Research