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Detection of ETV6 gene rearrangements in adult acute lymphoblastic leukemia
- Source :
- Annals of Hematology. 91:1235-1243
- Publication Year :
- 2012
- Publisher :
- Springer Science and Business Media LLC, 2012.
-
Abstract
- ETV6 is an important hematopoietic regulatory factor and ETV6 gene rearrangement is involved in a wide variety of hematological malignancies. In this study, we sought to investigate the incidence of ETV6-associated fusion genes in B- and T-lineage acute lymphoblastic leukemia (ALL) by multiplex-nested reverse transcription-polymerase chain reaction (RT-PCR) in 176 adult ALL patients. Total RNA was extracted from bone marrow samples of ALL patients including 136 B- and 40 T-lineage ALL, and ETV6 fusion genes were detected by multiplex-nested RT-PCR. Changes of ETV6 fusion gene mRNA transcript levels were examined by real-time RT-PCR. We detected a total of 15 ETV6 gene rearrangements with a positive rate of 8.5%, involving seven ETV6-associated fusion genes in 13 B-ALL (13/136, 9.6%) and 2 T-ALL patients (2/40, 5.0%). ETV6-RUNX1 were observed in six cases (3.4%), ETV6-JAK2 in three cases (1.7%), ETV6-ABL1 in two cases (1.1%), and ETV6-ABL2, ETV6-NCOA2, ETV6-SYK, and PAX5-ETV6 each in one case (0.6%). ETV6-JAK2 was found in both B-ALL and T-ALL patients. Furthermore, real-time quantitative RT-PCR assays showed that the ETV6-RUNX1 mRNA transcript levels decreased during conventional chemotherapy or hematopoietic stem cell transplantation. This study shows that multiplex-nested RT-PCR is an effective and accurate tool to identify ETV6 rearrangements in adult ALL, which provides some clues into the diagnosis and prognosis of ALL but also molecular markers for the detection of minimal residual disease in adult ALL.
- Subjects :
- Adult
Male
medicine.medical_specialty
Neoplasm, Residual
Adolescent
Oncogene Proteins, Fusion
medicine.medical_treatment
DNA Mutational Analysis
Hematopoietic stem cell transplantation
Biology
Sensitivity and Specificity
Translocation, Genetic
Fusion gene
Young Adult
Internal medicine
Biomarkers, Tumor
medicine
Humans
Aged
Aged, 80 and over
Hematology
Proto-Oncogene Proteins c-ets
General Medicine
Gene rearrangement
Middle Aged
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Molecular biology
Minimal residual disease
Repressor Proteins
ETV6
medicine.anatomical_structure
Mutation
Cancer research
Adult Acute Lymphoblastic Leukemia
Female
Bone marrow
Multiplex Polymerase Chain Reaction
Subjects
Details
- ISSN :
- 14320584 and 09395555
- Volume :
- 91
- Database :
- OpenAIRE
- Journal :
- Annals of Hematology
- Accession number :
- edsair.doi.dedup.....d3e64d92f18fe2914a135578f5d29909