This Oncotarget study had significantly lower mutation rates in ASXL1 and SETBP1, and a higher rate of muTET2/wtASXL1
Credit: Correspondence to – Jie-Gen Jiang – [email protected]
Oncotarget published “Cytogenetic and molecular landscape and its potential clinical significance in Hispanic CMML patients from Puerto Rico” which reported that one hundred and eleven Hispanic CMML patients from Puerto Rico were diagnosed in our institute from 2009 to 2018. Karyotypes were available in one hundred and seven patients.
Compared to previously published data, Hispanic CMML patients in this study had significantly lower rates of overall cytogenetic abnormalities and trisomy 8.
Among one hundred and eleven Hispanic CMML patients, 40-gene myeloid molecular profile tests were performed in fifty-six CMML patients.
Previous studies indicated that mutated ASXL1, DNMT3A, NRAS, RUNX1, and SETBP1 may associate with an unfavorable prognosis and muTET2/wtASXL1 may associate with a favorable prognosis in CMML patients.
Compared to previously published data, Hispanic CMML patients from Puerto Rico in this Oncotarget study had significantly lower mutation rates in ASXL1 and SETBP1, and a higher rate of muTET2/wtASXL1. The findings raise the possibility of a favorable prognosis in Hispanic CMML patients.
Dr. Jie-Gen Jiang from The Rutgers University said, “Chronic myelomonocytic leukemia (CMML) is a clonal hematopoietic malignancy with the presence of sustained monocytosis in peripheral blood alongside myelodysplastic and myeloproliferative characteristics.”
The clinical and pathological features of CMML are highly heterogeneous and variable with wide differences in survival and risk of disease evolution into acute myeloid leukemia or acute myelomonocytic leukemia.
Clonal cytogenetic abnormalities are found in about 20% to 30% of CMML patients, but none are specific.
Associations between these somatic mutations and disease phenotype or prognosis have been suggested, e.g., co-occurrence of TET2 and SRSF2 mutations is common in CMML and specific for myeloid neoplasms with monocytosis ; the mutations in ASXL1, NRAS, RUNX1, or SETBP1 are associated with an unfavorable prognosis , whereas mutated TET2 with wild type ASXL1 is associated with a favorable CMML prognosis.
However, there are no published studies on the racial disparity of cytogenetics and genomics in Hispanic CMML patients.
The aim of this study is to define the cytogenetic and molecular landscapes of Hispanic CMML patients from Puerto Rico and explore their potential clinical significance.
The Jiang Research Team concluded in their Oncotarget Research Output, “we examined cytogenetic abnormalities and mutation frequencies in one hundred seven (107) and fifty-six (56) Hispanic CMML patients from Puerto Rico, respectively. These CMML patients had a significantly lower rate in cytogenetic abnormalities, significantly lower mutational rates in ASXL1 and SETBP1, and a significantly higher rate in muTET2/wtASXL1. Since the cytogenetic and molecular profiles were suggested to be prognosis-associated, our current cytogenetic and molecular profiling data in Hispanic patients from Puerto Rico raise a possibility of a better prognosis in Hispanic CMML patients. To our best knowledge, this is a first study of cytogenetic and molecular abnormalities and their potential clinical significance in Hispanic CMML patients. It is uncertain if Hispanic CMML patients from other areas in the United States have similar cytogenetic and molecular features. Further studies are warranted to clarify this phenomenon.“
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Correspondence to – Jie-Gen Jiang – [email protected]
Keywords – chronic myelomonocytic leukemia, Hispanic, cytogenetic abnormality, gene mutation
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