Characteristics and clinical significance of phosphatase and tensin homolog mutations in adult T-cell acute lymphoblastic leukemia
10.3760/cma.j.issn.1009-9921.2018.04.007
- VernacularTitle: 成年人T细胞性急性淋巴细胞白血病磷酸酶及张力蛋白同源基因突变特点和临床意义
- Author:
Qi HAN
1
;
Yan GU
2
;
Yuqiao GAO
2
;
Jianyong LI
1
;
Baoan CHEN
2
;
Zheng GE
1
,
3
Author Information
1. Department of Hematology, the First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, Nanjing 210029, China
2. Department of Hematology, Zhongda Hospital, Southeast University Medical School, Nanjing 210009, China
3. Department of Hematology, Zhongda Hospital, Southeast University Medical School, Nanjing 210009, China
- Publication Type:Journal Article
- Keywords:
Leukemia, T-cell, acute;
Phosphatase and tensin homolog mutation;
Prognosis
- From:
Journal of Leukemia & Lymphoma
2018;27(4):216-221
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To detect the characteristics of phosphatase and tensin homolog (PTEN) mutations in adult T-cell acute lymphoblastic leukemia (T-ALL) and its relationship with the prognosis.
Methods:Fifty-five adult T-ALL patients were enrolled in Jiangsu Province Hospital from February 2010 to April 2016. Mononuclear bone marrow cells were extracted by using Ficoll density gradient centrifugation. Genomic DNA was extracted from isolated mononuclear cells. Amplified exon 1-9 of PTEN by polymerase chain reaction (PCR) specifically amplified PTEN exon, then DNA was purified, sequenced and compared. The mutation occurrence rate, mutation types, and the relations with several clinical indicators were analyzed.
Results:PTEN mutations were detected in 5 patients, and 8 types of mutations were detected in 55 T-ALL patients with mutation rate of 9.1% (5/55). All the mutations were located in exon 7 of the genes. Five patients with PTEN mutations also merged other gene mutations like NOTCH1 and DNM2. The level of median lactate dehydrogenase (LDH) in patients with PTEN mutations was higher than that in patients without PTEN mutations (3 358 U/L vs. 755 U/L, Z=-2.014, P= 0.044). No significant differences were found in gender, age, white blood count, hemoglobin, platelet count, overall survival rate, event free survival, recurrence free survival between the two groups (P > 0.05).
Conclusion:PTEN is a tumor suppressor gene, and its mutation plays a significant role in the occurrence and development of adult T-ALL patients, which may be associated with the poor prognosis.
