The Use of Molecular Cytogenetic Techniques for the Identification of Chromosomal Abnormalities

Kalkan, Rasime

doi:10.5772/67415

Cited by 3 publications

(2 citation statements)

References 62 publications

(59 reference statements)

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“…Chromosomal abnormalities give useful information on: disease biology, diagnosis, prognosis, predictive biomarkers, sub-classification of HMs into different disease subtypes, prediction of outcome and response to treatment and finally development of novel and targeted therapies [28,29]. The various types of cytogenetic techniques are shown in Table 1 [30][31][32][33]. The indications, limitations, resolution and advantages of each category of tests are shown in Table 2 [3, [34][35][36].…”

Section: Cytogenetic Techniques and Cytogenetic Abnormalitiesmentioning

confidence: 99%

Cytogenetics, Molecular Genetics and Epigenetics and Their Impact on The Management of Acute Lymphoblastic Leukemia

Wk¹,

Dridi²,

Ka³

2017

J Mol Genet Med

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The recent improvements in the outcomes of patients with acute lymphoblastic leukemia reflect the progress in the field of diagnostics and the achievements in therapeutic interventions. In particular, the availability of more advanced technology in the cytogenetic and molecular laboratories has resulted in the stratification of patients into specific risk groups and thus several novel agents as well as targeted therapies have been introduced. Additionally, precision medicine will be applicable in the near future and thus the recent developments will facilitate the provision of safer modalities of therapy that may ultimately yield not only higher responses but also improved survival rates.This review represents a recent update on the role of various cytogenetic assays and molecular techniques in patients with acute lymphoblastic leukemia. It is composed of a number of sections including: history of cytogenetics, disease etiology and pathophysiology, utilization of various cytogenetic assays diagnostically, disease-specific cytogenetic and molecular abnormalities, common disease genetic subtypes, prognosis and risk stratification, refractory and relapsed disease, novel therapies, precision medicine and drug repurposing.

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Section: Cytogenetic Techniques and Cytogenetic Abnormalitiesmentioning

confidence: 99%

Cytogenetics, Molecular Genetics and Epigenetics and Their Impact on The Management of Acute Lymphoblastic Leukemia

Wk¹,

Dridi²,

Ka³

2017

J Mol Genet Med

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“…Moreover, in a resource-constrained setting, the respective probes may not be available. 21 Besides all the advantages of FC, the main issue with this diagnostic modality is the high cost of the test which makes it unaffordable for people who are inhabitants of an underdeveloped country. Our study aimed to perform FC choosing limited antibody panel marker after performing the morphological assessment without compromising the diagnostic acuity.…”

Section: Introductionmentioning

confidence: 99%

Diagnostic utility of flow cytometry in resource-constrained settings- a single center experience

Mir

Mushtaq

Hameed

et al. 2023

Preprint

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Background:Flow cytometry (FC) is an expensive investigation that is unaffordable for many patients from underprivileged nations. We aimed to reduce the total budget of the test by optimizing a limited antibody panel as guided by morphological assessment. Materials and methods:This single-center, experimentalstudy included 247 patients referred for Flow cytometry at Rehman Medical Institute, Peshawar.There were 162 male (65.4 %) and 85 female patients (34.6%) with a mean age of 38.78±21.55 years. Bone marrow or peripheral blood samples were used for immunophenotyping. After the morphological assessment, a limited panel of flow markers was selected. All samples were stained with fluorochromes labeled monoclonal antibodies, acquired, and analyzed with a flow cytometer (Cytoflex, Beckman-Coulter, USA). Data were statistically analyzed through SPSS-22, and descriptive statistics were applied for all variables. All results were presented in form of graphs, tables, and charts Results:Out of 247 cases, an Acute leukemia panel was requested for 128 cases, a lymphoproliferative panel for 56 cases, T-cell subset analysis for 53 cases, and PNH clone screening for 10 cases. Newly diagnosed cases were 221 while 26 cases were known labeled cases of Acute leukemia for Minimal Residual Disease (MRD) analysis. Among the cases for MRD analysis, 10 cases were in remission, 12 cases relapsed and 04 cases were not in the remission phase. 98% of cases referred for Acute leukemia and Lymphoproliferative disorders, and 100% of cases referred for proximal nocturnal Hemoglobinuria (PNH) and T-cell subset analysis was conclusively diagnosed by our limited flow cytometry panels with low-cost effect. Conclusions:In resource-constrained settings, optimization of a limited antibody panel is extremely facilitating to provide a Flow cytometry-based diagnosis which further guides the treatment decision.

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Diagnostic utility of flow cytometry in resource-constrained settings- a single center experience

Khattak

Mushtaq

Yousafzai

et al. 2022

Preprint

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Background: Flow cytometry (FC) is an expensive investigation that is unaffordable for many patients from underprivileged nations. We aimed to reduce the total budget of the test by optimizing a limited antibody panel as guided by morphological assessment. Materials and methods: This single-center, the experimental study included 247 patients referred for Flow cytometry at Rehman Medical Institute, Peshawar.There were 162 male (65.4 %) and 85 female patients (34.6%) with a mean age of 38.78±21.55 years. Bone marrow or peripheral blood samples were used for immunophenotyping. After the morphological assessment, a limited panel of flow markers was selected. All samples were stained with fluorochromes labeled monoclonal antibodies, acquired, and analyzed with a flow cytometer (Cytoflex, BeckMan-Coulter, USA). Data were statistically analyzed through SPSS-22, and descriptive statistics were applied for all variables. All results were presented in form of graphs, tables, and charts Results: Out of 247 cases, an Acute leukemia panel was requested for 128 cases, a lymphoproliferative panel for 56 cases, T-cell subset analysis for 53 cases, and PNH clone screening for 10 cases. Newly diagnosed cases were 221 while 26 cases were known labeled cases of Acute leukemia for Minimal Residual Disease (MRD) analysis. Among the cases for MRD analysis, 10 cases were in remission, 12 cases relapsed and 04 cases were not in the remission phase. 98% of cases referred for Acute leukemia and Lymphoproliferative disorders, and 100% of cases referred for proximal nocturnal Hemoglobinuria (PNH) and T-cell subset analysis was conclusively diagnosed by our limited flow cytometry panels with low-cost effect. Conclusions: In resource-constrained settings, optimization of a limited antibody panel is extremely facilitating to provide a Flow cytometry-based diagnosis which further guides the treatment decision.

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The Use of Molecular Cytogenetic Techniques for the Identification of Chromosomal Abnormalities

Cited by 3 publications

References 62 publications

Cytogenetics, Molecular Genetics and Epigenetics and Their Impact on The Management of Acute Lymphoblastic Leukemia

Cytogenetics, Molecular Genetics and Epigenetics and Their Impact on The Management of Acute Lymphoblastic Leukemia

Diagnostic utility of flow cytometry in resource-constrained settings- a single center experience

Diagnostic utility of flow cytometry in resource-constrained settings- a single center experience

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