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B-line acute lymphoblastic leukemia (B-ALL) is a group of malignant tumor diseases that originate from B-line lymphocytes and abnormally proliferate in the bone marrow
.
In the past few years, the prognosis of B-ALL has been greatly improved, largely due to the enhancement of standard chemotherapy and the development of risk stratification, supportive treatment, and minimal residual disease (MRD) monitoring
.
In order to further promote the communication and development of the diagnosis field of hematological tumors and lymphoid tumors, the 3rd Hematological Tumor Accurate Detection Summit Forum was successfully held in Beijing from July 3 to 4, 2021
.
During this period, Yimaitong was fortunate to invite researcher Qin Yaqin from Peking University People's Hospital to share the molecular markers of B-ALL and the clinical application of WT1 in MRD monitoring
.
Molecular markers assist B-ALL in the diagnosis and treatment of acute leukemia.
Molecular abnormalities are common in the diagnosis and treatment of acute leukemia.
These abnormalities can become molecular markers for the diagnosis and monitoring of leukemia
.
Researcher Qin Yaqin said, “The molecular markers of B-ALL are mainly divided into three categories.
The first is fusion gene, the second is gene copy number variation, and the third is mutation
.
Compared with acute myeloid leukemia, fusion The incidence of genes in B-ALL is higher, while the incidence of mutations is lower
.
” Researcher Qin Yaqin pointed out that molecular markers are essential for the diagnosis, prognosis, targeted therapy and MRD monitoring of B-ALL
.
First, in terms of diagnosis, morphological typing has entered molecular typing, such as the B-ALL subtype accompanied by the BCR-ABL fusion gene
.
Second, in terms of prognosis, genetics is the basic framework of prognostic stratification.
Now many molecular markers have been integrated into the prognostic stratification system, such as Ph-like (Ph-like) subtypes and BCR-ABL subtypes.
For the high-risk group
.
Third, in terms of targeted therapy, molecular markers can effectively guide targeted therapy
.
The world’s first small molecule targeted drug is tyrosine kinase inhibitor (TKI) imatinib that targets BCR-ABL.
The subsequent second and third generation targeted drugs have more excellent efficacy, so TKI is already BCR-ABL The treatment of choice for positive B-ALL
.
Fourth, in terms of MRD monitoring, molecular markers are characterized by sensitivity and specificity.
The use of molecular techniques to monitor leukemia-specific molecular markers such as fusion genes meets the requirements for high sensitivity, and molecular marker detection promotes the diagnosis of B-ALL.
And treatment
.
RNA-Seq advances the discovery of specific markers.
At present, next-generation sequencing has been widely used in clinical monitoring of acute leukemia.
In the field of B-ALL molecules, RNA-Seq is gradually being applied as an important technology
.
Researcher Qin Yaqin pointed out that RNA-seq is mainly used for gene expression profiling.
B-ALL can be typed through gene expression profiling, which can be classified from the perspective of gene expression
.
In addition to analyzing gene expression profiles, RNA-seq technology can also discover fusion genes, an important molecular marker of B-ALL
.
With the continuous application of new technologies to B-ALL, clinical molecular classification and diagnosis and treatment will continue to be improved, and characteristic molecular markers will be gradually discovered to guide clinical more precise and accurate treatment
.
In addition, molecular markers, as an effective indicator of MRD monitoring, can monitor the change trend of the patient's tumor load earlier, so as to take effective treatment measures earlier, and ultimately reduce the recurrence of the disease
.
WT1 assists B-ALL MRD in monitoring WT1 is a pan-leukemia marker and is generally non-specifically highly expressed in leukemia
.
In the diagnosis of B-ALL, WT1 plays an auxiliary diagnostic role, and its meaning mostly represents "malignant"
.
Researcher Qin Yaqin said that the more important value of WT1 is reflected in MRD monitoring
.
As an important molecular marker of B-ALL, fusion genes are present in half of patients at most.
For other patients without fusion gene markers, WT1 is a valuable and universally applicable MRD monitoring indicator.
The existing research data shows The monitoring of MRD in acute leukemia, including B-ALL, is of great significance in predicting recurrence
.
In terms of prognosis, overexpressed genes have little prognostic effect, so overexpressed genes are rarely included in various prognostic stratifications
.
At present, some studies have shown the prognostic significance of WT1 in B-ALL, but the conclusions of different studies may be inconsistent
.
According to data from the Institute of Hematology, Peking University, in newly diagnosed adult B-ALL patients, both high and low expression of WT1 are found to have a poor prognosis, and only patients with moderate expression have a good prognosis
.
In other diseases, the prognostic significance of WT1 is inconsistent, so it is necessary to make a fine stratification in a specific background and a specific population to clarify the prognostic significance of WT1
.
Researcher Qin Yaqin, Peking University People's Hospital, Peking University Institute of Hematology, and National Clinical Center for Hematology, the research direction of Malignant Hematological Transformation Research and Molecular Diagnosis The Ninth/Tenth/Second Session of the Chinese Medical Association Hematology Branch The member of the 11th Laboratory Diagnostics Group presided over 4 National Natural Science Foundations and 1 Beijing Foundation.
Published more than 30 SCI papers and more than 30 Chinese papers as the first or corresponding author (including co-authors).
Presided over 3 national blood molecular tests.
Compilation of the inter-laboratory comparison project (including participation) 3 Chinese Expert Consensus/Guidelines for Molecular Diagnosis of Blood Diseases Won the Outstanding Project Award Stamp of the Capital Translational Medicine Innovation Competition "Read the original", we will make progress together
.
In the past few years, the prognosis of B-ALL has been greatly improved, largely due to the enhancement of standard chemotherapy and the development of risk stratification, supportive treatment, and minimal residual disease (MRD) monitoring
.
In order to further promote the communication and development of the diagnosis field of hematological tumors and lymphoid tumors, the 3rd Hematological Tumor Accurate Detection Summit Forum was successfully held in Beijing from July 3 to 4, 2021
.
During this period, Yimaitong was fortunate to invite researcher Qin Yaqin from Peking University People's Hospital to share the molecular markers of B-ALL and the clinical application of WT1 in MRD monitoring
.
Molecular markers assist B-ALL in the diagnosis and treatment of acute leukemia.
Molecular abnormalities are common in the diagnosis and treatment of acute leukemia.
These abnormalities can become molecular markers for the diagnosis and monitoring of leukemia
.
Researcher Qin Yaqin said, “The molecular markers of B-ALL are mainly divided into three categories.
The first is fusion gene, the second is gene copy number variation, and the third is mutation
.
Compared with acute myeloid leukemia, fusion The incidence of genes in B-ALL is higher, while the incidence of mutations is lower
.
” Researcher Qin Yaqin pointed out that molecular markers are essential for the diagnosis, prognosis, targeted therapy and MRD monitoring of B-ALL
.
First, in terms of diagnosis, morphological typing has entered molecular typing, such as the B-ALL subtype accompanied by the BCR-ABL fusion gene
.
Second, in terms of prognosis, genetics is the basic framework of prognostic stratification.
Now many molecular markers have been integrated into the prognostic stratification system, such as Ph-like (Ph-like) subtypes and BCR-ABL subtypes.
For the high-risk group
.
Third, in terms of targeted therapy, molecular markers can effectively guide targeted therapy
.
The world’s first small molecule targeted drug is tyrosine kinase inhibitor (TKI) imatinib that targets BCR-ABL.
The subsequent second and third generation targeted drugs have more excellent efficacy, so TKI is already BCR-ABL The treatment of choice for positive B-ALL
.
Fourth, in terms of MRD monitoring, molecular markers are characterized by sensitivity and specificity.
The use of molecular techniques to monitor leukemia-specific molecular markers such as fusion genes meets the requirements for high sensitivity, and molecular marker detection promotes the diagnosis of B-ALL.
And treatment
.
RNA-Seq advances the discovery of specific markers.
At present, next-generation sequencing has been widely used in clinical monitoring of acute leukemia.
In the field of B-ALL molecules, RNA-Seq is gradually being applied as an important technology
.
Researcher Qin Yaqin pointed out that RNA-seq is mainly used for gene expression profiling.
B-ALL can be typed through gene expression profiling, which can be classified from the perspective of gene expression
.
In addition to analyzing gene expression profiles, RNA-seq technology can also discover fusion genes, an important molecular marker of B-ALL
.
With the continuous application of new technologies to B-ALL, clinical molecular classification and diagnosis and treatment will continue to be improved, and characteristic molecular markers will be gradually discovered to guide clinical more precise and accurate treatment
.
In addition, molecular markers, as an effective indicator of MRD monitoring, can monitor the change trend of the patient's tumor load earlier, so as to take effective treatment measures earlier, and ultimately reduce the recurrence of the disease
.
WT1 assists B-ALL MRD in monitoring WT1 is a pan-leukemia marker and is generally non-specifically highly expressed in leukemia
.
In the diagnosis of B-ALL, WT1 plays an auxiliary diagnostic role, and its meaning mostly represents "malignant"
.
Researcher Qin Yaqin said that the more important value of WT1 is reflected in MRD monitoring
.
As an important molecular marker of B-ALL, fusion genes are present in half of patients at most.
For other patients without fusion gene markers, WT1 is a valuable and universally applicable MRD monitoring indicator.
The existing research data shows The monitoring of MRD in acute leukemia, including B-ALL, is of great significance in predicting recurrence
.
In terms of prognosis, overexpressed genes have little prognostic effect, so overexpressed genes are rarely included in various prognostic stratifications
.
At present, some studies have shown the prognostic significance of WT1 in B-ALL, but the conclusions of different studies may be inconsistent
.
According to data from the Institute of Hematology, Peking University, in newly diagnosed adult B-ALL patients, both high and low expression of WT1 are found to have a poor prognosis, and only patients with moderate expression have a good prognosis
.
In other diseases, the prognostic significance of WT1 is inconsistent, so it is necessary to make a fine stratification in a specific background and a specific population to clarify the prognostic significance of WT1
.
Researcher Qin Yaqin, Peking University People's Hospital, Peking University Institute of Hematology, and National Clinical Center for Hematology, the research direction of Malignant Hematological Transformation Research and Molecular Diagnosis The Ninth/Tenth/Second Session of the Chinese Medical Association Hematology Branch The member of the 11th Laboratory Diagnostics Group presided over 4 National Natural Science Foundations and 1 Beijing Foundation.
Published more than 30 SCI papers and more than 30 Chinese papers as the first or corresponding author (including co-authors).
Presided over 3 national blood molecular tests.
Compilation of the inter-laboratory comparison project (including participation) 3 Chinese Expert Consensus/Guidelines for Molecular Diagnosis of Blood Diseases Won the Outstanding Project Award Stamp of the Capital Translational Medicine Innovation Competition "Read the original", we will make progress together
