Cytogenetic and molecular landscape and its potential clinical significance in Hispanic CMML patients from Puerto Rico
Year: 2020
Type: article
Study design: Observational Study
Abstract: // Zeju Jiang 1 , 2 , Xinlai Sun 1 , Zhao Wu 3 , Albert Alhatem 1 , Ruifang Zheng 1 , Dongfang Liu 1 , Yaqun Wang 4 , Dibyendu Kumar 5 , Changqing Xia 5 , Bei You 1 , He Wang 6 , Chen Liu 7 and Jie-Gen Jiang 1 , 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 Correspondence to: Jie-Gen Jiang, email: [email protected] 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 Copyright: © 2020 Jiang et al. This is an open access article distributed under the terms of the Creative Commons Attribution License (CC BY 3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. ABSTRACT 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.
Source: Oncotarget
Authors: Zeju Jiang, Xinlai Sun, Zhao Wu, Albert Alhatem, Ruifang Zheng, Dongfang Liu, Yaqun Wang, Dibyendu Kumar, Changqing Xia, Bei You, He Wang, Chen Liu, Jie-Gen Jiang
Language: English
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W3106561143