Cytogenetic and molecular landscape and its potential clinical significance in Hispanic CMML patients from Puerto Rico
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Zeju Jiang1,2, Xinlai Sun1, Zhao Wu3, Albert Alhatem1, Ruifang Zheng1, Dongfang Liu1, Yaqun Wang4, Dibyendu Kumar5, Changqing Xia5, Bei You1, He Wang6, Chen Liu7 and Jie-Gen Jiang1,5
1 Department of Pathology, Immunology & Laboratory Medicine, Rutgers New Jersey Medical School, Newark, NJ 07103, USA
2 Jiangxi Medical College, Nanchang University, Nanchang 330006, Jiangxi, China
3 Neogenomics, Carlsbad, CA 92008, USA
4 Department of Biostatistics, Rutgers School of Public Health and Rutgers Cancer Institute of New Jersey, New Brunswick, NJ 08901, USA
5 Institute of Genomics Medicine, New Jersey Medical School, Rutgers University, Newark, NJ 07103, USA
6 Department of Pathology and Laboratory Medicine, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ 08903, USA
7 Department of Pathology, School of Medicine, Yale University, New Haven, CT 06520, USA
Keywords: chronic myelomonocytic leukemia; Hispanic; cytogenetic abnormality; gene mutation
Abbreviations: CMML: chronic myelomonocytic leukemia; AML: acute myeloid leukemia; AMML: acute myelomonocytic leukemia; MDS: myelodysplastic syndrome
Received: September 21, 2020 Accepted: November 12, 2020 Published: November 24, 2020
Chronic myelomonocytic leukemia (CMML) is a clonal hematopoietic neoplasm that exhibits myelodysplastic and myeloproliferative characteristics with heterogeneous clinical and pathological features. There are limited publications on the ethnic and racial disparity of cytogenetics and genomics in CMML patients. This study aims to define the cytogenetic and molecular landscape in Hispanic CMML patients from Puerto Rico and explore its possible clinical significance. One hundred and eleven (111) Hispanic CMML patients from Puerto Rico were diagnosed in our institute from 2009 to 2018. Karyotypes were available in one hundred and seven (107) patients. Seventeen (17) patients had abnormal karyotypes (17/107, 16%). Compared to previously published data, Hispanic CMML patients in this study had significantly lower rates of overall cytogenetic abnormalities (16% vs 27–28%, p < 0.05) and trisomy 8 (2% vs 7%, p < 0.05). Among one hundred and eleven (111) Hispanic CMML patients, 40-gene myeloid molecular profile tests were performed in fifty-six (56) CMML patients. Gene mutations were identified in fifty-four (54) patients (96%). The most frequent mutated genes were: TET2, SRSF2, ASXL1, ZRSR2, DNMT3A, NRAS, CBL, and RUNX1. Twenty-nine (29) out of fifty-six (56) patients (29/56, 52%) had mutated TET2/wild type ASXL1 (muTET2/wtASXL1). 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 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.
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