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[Analysis of RUNX1 Gene Mutation in Patients with Myelodysplastic Syndrome].
Cai, Xiao-Hui; Chen, Mei-Yu; Chao, Hong-Ying; Jiang, Nai-Ke; Lu, Xu-Zhang; Han, Wen-Min; Qin, Wei; Jia, Zhu-Xia.
Afiliación
  • Cai XH; Department of Hematology, The Changzhou Second Hospital Affiliated to Nanjing Medical University, Changzhou 213003, Jiangsu Province, China.
  • Chen MY; Department of Hematology, The Changzhou Second Hospital Affiliated to Nanjing Medical University, Changzhou 213003, Jiangsu Province, China.
  • Chao HY; Department of Hematology, The Changzhou Second Hospital Affiliated to Nanjing Medical University, Changzhou 213003, Jiangsu Province, China,E-mail: chaohy2006@126.com.
  • Jiang NK; Department of Hematology, The Changzhou Second Hospital Affiliated to Nanjing Medical University, Changzhou 213003, Jiangsu Province, China.
  • Lu XZ; Department of Hematology, The Changzhou Second Hospital Affiliated to Nanjing Medical University, Changzhou 213003, Jiangsu Province, China.
  • Han WM; Department of Hematology, The Changzhou Second Hospital Affiliated to Nanjing Medical University, Changzhou 213003, Jiangsu Province, China.
  • Qin W; Department of Hematology, The Changzhou Second Hospital Affiliated to Nanjing Medical University, Changzhou 213003, Jiangsu Province, China.
  • Jia ZX; Department of Hematology, The Changzhou Second Hospital Affiliated to Nanjing Medical University, Changzhou 213003, Jiangsu Province, China.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 28(1): 202-208, 2020 Feb.
Article en Zh | MEDLINE | ID: mdl-32027277
OBJECTIVE: To investigate the mutation of RUNX1 gene in patients with myelodysplastic syndrome (MDS) and its correlation with other gene mutations and some clinical parameters. METHODS: The mutations of RUNX1, DNMT3A, TET2, IDH1/2, NPM1, FLT3-ITD and C-KIT in 170 patients with MDS were detected by direct and indirect sequencing of genomic DNA-PCR amplification products. RESULTS: The RUNX1 mutation was found in 23 patients (13.5 %, 23/170). Among the 170 patients, other most frequent mutation was TET2 (11.2%, 19/170), followed by mutations in DNMT3A (9.4%, 16/170), NPM1 (8.2%, 14/170), IDH2 (4.1%, 7/170)、FLT3-ITD (2.9%, 5/170), IDH1 (1.7%, 3/170) and c-KIT (0.58%, 1/170). The most common coexisting mutations were TET2 (5/23). The RUNX1-mutated group showed significantly higher leukocyte levels, higher percentages of blast cells, higher incidences of leukemia transformation and lower platelet counts in comparison with RUNX1 non-mutation group (P＜0.05). whereas there were no statistically significant difference in age, MDS subtype, karyotype and hemoglobin level between 2 groups (P＞0.05). Seventeen patients harboring RUNX1 mutations were followed up and almost 47.05% (8/17) of the patients progressed into acute myeloid leukemia (AML). The rates of transformation into AML in ASXL1-mutation group was significantly higher than that in ASXLL- non-mutation group (47.05% vs 11.7%) (P=0.001). CONCLUSION: The incidence of RUNX1 mutation is high in MDS patients. The RUNX1-mutated patients have higher leukocyte level, higher percentages of blast cells, higher incidences of leukemia transformation and lower platelet count.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndromes Mielodisplásicos / Leucemia Mieloide Aguda / Subunidad alfa 2 del Factor de Unión al Sitio Principal Tipo de estudio: Prognostic_studies Límite: Humans Idioma: Zh Revista: Zhongguo Shi Yan Xue Ye Xue Za Zhi Asunto de la revista: HEMATOLOGIA Año: 2020 Tipo del documento: Article País de afiliación: China Pais de publicación: China
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndromes Mielodisplásicos / Leucemia Mieloide Aguda / Subunidad alfa 2 del Factor de Unión al Sitio Principal Tipo de estudio: Prognostic_studies Límite: Humans Idioma: Zh Revista: Zhongguo Shi Yan Xue Ye Xue Za Zhi Asunto de la revista: HEMATOLOGIA Año: 2020 Tipo del documento: Article País de afiliación: China Pais de publicación: China