Clinical impact of c-KIT and CEBPA mutations in 33 patients with corebinding factor (Non-M3) acute myeloid leukemia
Background: Corebinding factor acute myeloid leukemia (CBF-AML) is the most common cytogenetic subtype of pediatric AML. CBF-AML is associated with a relatively favorable outcome, although the relapse rate of approximately 40% indicates a high degree of clinical heterogeneity. The clinical impact of...
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Elsevier
2023-07-01
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| Series: | Pediatrics and Neonatology |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S1875957223000190 |
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| author | Xiaoyan Mao Runxiu Yin Li Liu Yan Zhou Chunhui Yang Chunlian Fang Hongchao Jiang Qulian Guo Xin Tian |
| author_facet | Xiaoyan Mao Runxiu Yin Li Liu Yan Zhou Chunhui Yang Chunlian Fang Hongchao Jiang Qulian Guo Xin Tian |
| author_sort | Xiaoyan Mao |
| collection | DOAJ |
| description | Background: Corebinding factor acute myeloid leukemia (CBF-AML) is the most common cytogenetic subtype of pediatric AML. CBF-AML is associated with a relatively favorable outcome, although the relapse rate of approximately 40% indicates a high degree of clinical heterogeneity. The clinical impact of additional cytogenetic aberrations, including c-KIT and CEBPA mutations, in pediatric CBF-AML has not been well characterized, especially in the multi-ethnic region of Yunnan Province in China. Methods: In this study, we retrospectively analyzed the clinical features, gene mutations, and prognoses of 72 pediatric patients newly diagnosed with non-M3 AML in Kunming Children's Hospital, China, from January 1, 2015 to May 31, 2020. Results: Of the 72 pediatric patients with AML, 46% (33/72) had CBF-AML. Thirteen patients with CBF-AML (39%) had c-KIT mutations, five (15%) had CEBPA mutations, and eleven (33.3%) had no other cytogenetic aberrations. The c-KIT mutations, resulting from single nucleotide substitutions and small insertions or deletions, occurred in exons 8 and 17. All of the CBF-AML-associated CEBPA mutations were single mutations and occurred in patients with RUNX1-RUNX1T1 fusion. We found no significant differences in the clinical data between CBF-AML patients with c-KIT or CEBPA mutations and CBF-AML patients without other aberrations, and no prognostic significance was established for these mutations. Conclusion: Our study is the first to report the clinical impact of c-KIT and CEBPA mutations in pediatric patients with non-M3 CBF-AML from the multi-ethnic Yunnan Province, China. c-KIT and CEBPA mutations occurred at a higher frequency in CBF-AML cases and were associated with unique clinical characteristics; however, no potential molecular prognostic markers were identified. |
| format | Article |
| id | doaj-art-80e1cdacaae8453e87de00ee64cdbb97 |
| institution | OA Journals |
| issn | 1875-9572 |
| language | English |
| publishDate | 2023-07-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Pediatrics and Neonatology |
| spelling | doaj-art-80e1cdacaae8453e87de00ee64cdbb972025-08-20T01:51:10ZengElsevierPediatrics and Neonatology1875-95722023-07-0164443544110.1016/j.pedneo.2022.05.020Clinical impact of c-KIT and CEBPA mutations in 33 patients with corebinding factor (Non-M3) acute myeloid leukemiaXiaoyan Mao0Runxiu Yin1Li Liu2Yan Zhou3Chunhui Yang4Chunlian Fang5Hongchao Jiang6Qulian Guo7Xin Tian8Department of Pediatrics, Children Hematological Oncology and Birth Defects Laboratory, The Affiliated Hospital of Southwest Medical University, Sichuan Clinical Research Center for Birth Defects, Luzhou, Sichuan 646000, China; Kunming Medical University, Kunming City, Yunnan province, ChinaDepartment of Hematology, Kunming Children's Hospital (The Affiliated Children's Hospital of Kunming Medical University, Yunnan Key Laboratory of Children's Major Disease Research), Kunming Medical University, Kunming City, Yunnan province, ChinaKunming Medical University, Kunming City, Yunnan province, ChinaDepartment of Hematology, Kunming Children's Hospital (The Affiliated Children's Hospital of Kunming Medical University, Yunnan Key Laboratory of Children's Major Disease Research), Kunming Medical University, Kunming City, Yunnan province, ChinaDepartment of Hematology, Kunming Children's Hospital (The Affiliated Children's Hospital of Kunming Medical University, Yunnan Key Laboratory of Children's Major Disease Research), Kunming Medical University, Kunming City, Yunnan province, ChinaDepartment of Hematology, Kunming Children's Hospital (The Affiliated Children's Hospital of Kunming Medical University, Yunnan Key Laboratory of Children's Major Disease Research), Kunming Medical University, Kunming City, Yunnan province, ChinaDepartment of Hematology, Kunming Children's Hospital (The Affiliated Children's Hospital of Kunming Medical University, Yunnan Key Laboratory of Children's Major Disease Research), Kunming Medical University, Kunming City, Yunnan province, ChinaDepartment of Pediatrics, Children Hematological Oncology and Birth Defects Laboratory, The Affiliated Hospital of Southwest Medical University, Sichuan Clinical Research Center for Birth Defects, Luzhou, Sichuan 646000, ChinaDepartment of Hematology, Kunming Children's Hospital (The Affiliated Children's Hospital of Kunming Medical University, Yunnan Key Laboratory of Children's Major Disease Research), Kunming Medical University, Kunming City, Yunnan province, China; Corresponding author. No. 288, Qianxing Road, Xishan District, Kunming City, Yunnan Province, China.Background: Corebinding factor acute myeloid leukemia (CBF-AML) is the most common cytogenetic subtype of pediatric AML. CBF-AML is associated with a relatively favorable outcome, although the relapse rate of approximately 40% indicates a high degree of clinical heterogeneity. The clinical impact of additional cytogenetic aberrations, including c-KIT and CEBPA mutations, in pediatric CBF-AML has not been well characterized, especially in the multi-ethnic region of Yunnan Province in China. Methods: In this study, we retrospectively analyzed the clinical features, gene mutations, and prognoses of 72 pediatric patients newly diagnosed with non-M3 AML in Kunming Children's Hospital, China, from January 1, 2015 to May 31, 2020. Results: Of the 72 pediatric patients with AML, 46% (33/72) had CBF-AML. Thirteen patients with CBF-AML (39%) had c-KIT mutations, five (15%) had CEBPA mutations, and eleven (33.3%) had no other cytogenetic aberrations. The c-KIT mutations, resulting from single nucleotide substitutions and small insertions or deletions, occurred in exons 8 and 17. All of the CBF-AML-associated CEBPA mutations were single mutations and occurred in patients with RUNX1-RUNX1T1 fusion. We found no significant differences in the clinical data between CBF-AML patients with c-KIT or CEBPA mutations and CBF-AML patients without other aberrations, and no prognostic significance was established for these mutations. Conclusion: Our study is the first to report the clinical impact of c-KIT and CEBPA mutations in pediatric patients with non-M3 CBF-AML from the multi-ethnic Yunnan Province, China. c-KIT and CEBPA mutations occurred at a higher frequency in CBF-AML cases and were associated with unique clinical characteristics; however, no potential molecular prognostic markers were identified.http://www.sciencedirect.com/science/article/pii/S1875957223000190c-KITCBF-AMLCEBPAPediatricPrognosis |
| spellingShingle | Xiaoyan Mao Runxiu Yin Li Liu Yan Zhou Chunhui Yang Chunlian Fang Hongchao Jiang Qulian Guo Xin Tian Clinical impact of c-KIT and CEBPA mutations in 33 patients with corebinding factor (Non-M3) acute myeloid leukemia Pediatrics and Neonatology c-KIT CBF-AML CEBPA Pediatric Prognosis |
| title | Clinical impact of c-KIT and CEBPA mutations in 33 patients with corebinding factor (Non-M3) acute myeloid leukemia |
| title_full | Clinical impact of c-KIT and CEBPA mutations in 33 patients with corebinding factor (Non-M3) acute myeloid leukemia |
| title_fullStr | Clinical impact of c-KIT and CEBPA mutations in 33 patients with corebinding factor (Non-M3) acute myeloid leukemia |
| title_full_unstemmed | Clinical impact of c-KIT and CEBPA mutations in 33 patients with corebinding factor (Non-M3) acute myeloid leukemia |
| title_short | Clinical impact of c-KIT and CEBPA mutations in 33 patients with corebinding factor (Non-M3) acute myeloid leukemia |
| title_sort | clinical impact of c kit and cebpa mutations in 33 patients with corebinding factor non m3 acute myeloid leukemia |
| topic | c-KIT CBF-AML CEBPA Pediatric Prognosis |
| url | http://www.sciencedirect.com/science/article/pii/S1875957223000190 |
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