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Karyotyping

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Updated: Mar 10, 2026

Comprehensive DNA Methylation Analysis Using a Methyl-CpG-binding Domain Capture-based Method in Chronic Lymphocytic Leukemia Patients

Comprehensive DNA Methylation Analysis Using a Methyl-CpG-binding Domain Capture-based Method in Chronic Lymphocytic Leukemia Patients

Published on: June 16, 2017

Comprehensive Cytogenomic Profiling of T-Lymphoblastic Leukemia Using Optical Genome Mapping, Karyotyping, and

Guilin Tang¹, Alexandra Reynolds¹, Farhad Ravandi-Kashani²

¹Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, Texas.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc

|March 9, 2026

Summary

This summary is machine-generated.

Optical genome mapping (OGM) and next-generation sequencing (NGS) significantly improve the detection of genomic alterations in T-lymphoblastic leukemia/lymphoma (T-ALL) compared to karyotyping alone. This comprehensive profiling aids in understanding T-ALL subtypes and risk stratification.

Keywords:

T-cell acute lymphoblastic leukemia cytogenomic profiles next-generation sequencing optical genome mapping

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Comprehensive DNA Methylation Analysis Using a Methyl-CpG-binding Domain Capture-based Method in Chronic Lymphocytic Leukemia Patients

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Published on: January 28, 2014

Area of Science:

Genomics
Oncology
Molecular Biology

Background:

T-lymphoblastic leukemia/lymphoma (T-ALL) is a heterogeneous lymphoid malignancy.
Accurate cytogenomic profiling is crucial for understanding T-ALL biology and guiding treatment.
Conventional karyotyping has limitations in detecting all relevant genomic alterations.

Purpose of the Study:

To comprehensively analyze cytogenomic alterations in T-ALL using a combination of optical genome mapping (OGM), conventional karyotyping, and next-generation sequencing (NGS).
To compare the diagnostic yield of OGM with conventional karyotyping.
To identify specific cytogenomic alterations associated with different T-ALL subtypes.

Main Methods:

Analysis of 91 T-ALL cases using OGM, karyotyping, and NGS.
Detection and characterization of gene rearrangements, copy number variants, and gene mutations.
Correlation of cytogenomic findings with T-ALL subtypes.

Main Results:

OGM detected cytogenetic abnormalities in 97.8% of T-ALL cases, significantly higher than karyotyping (55%).
OGM provided clinically relevant information beyond karyotyping in ~70% of cases.
High prevalence of gene mutations (93%), copy number variants (93%), and gene rearrangements (80%) was observed.
Specific cytogenomic alterations were associated with early T-precursor (ETP) and cortical T-ALL subtypes.
NOTCH1 mutations were the most frequent gene mutations (57%).

Conclusions:

Integrated OGM and NGS with karyotyping provide comprehensive cytogenomic profiling for T-ALL.
This approach enhances the detection of clinically relevant genomic alterations.
Findings may inform T-ALL classification and risk stratification strategies.