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Related Experiment Video

Updated: Jun 15, 2025

Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations

Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations

Published on: March 29, 2017

A Novel BCR::ABL1 Variant Detected with Multiple Testing Modalities.

J Jean¹, M Sukhanova¹, D Dittmann¹

¹Department of Pathology Feinberg School of Medicine Northwestern University, Chicago 60611, IL, USA.

Case Reports in Hematology

|August 26, 2024

Summary

This summary is machine-generated.

A novel BCR-ABL1 fusion transcript variant in chronic myeloid leukemia (CML) was identified. Comprehensive testing confirmed its functional nature, highlighting the need for diverse diagnostic methods in CML.

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Last Updated: Jun 15, 2025

Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations

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A Blood-based Test for the Detection of ROS1 and RET Fusion Transcripts from Circulating Ribonucleic Acid Using Digital Polymerase Chain Reaction

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Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing

Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing

Published on: July 5, 2019

Area of Science:

Hematology
Molecular Biology
Oncology

Background:

Chronic myeloid leukemia (CML) is characterized by specific BCR::ABL1 fusion transcripts arising from different breakpoint regions (M-BCR, m-BCR, u-BCR).
These breakpoints correspond to distinct fusion protein types: p210, p190, and p230.

Observation:

A novel p210 fusion transcript splice variant was detected in a newly diagnosed CML patient using qualitative reverse transcription PCR and capillary electrophoresis.
Fluorescence in situ hybridization (FISH) confirmed 86.5% positivity for the BCR::ABL1 fusion.

Findings:

Quantitative real-time PCR yielded a negative result for the p210 fusion transcript, contrasting with the qualitative findings.
Sanger sequencing revealed the variant to be in-frame and predicted to be functional.

Implications:

This case underscores the necessity of employing a combination of diagnostic techniques for comprehensive characterization of rare BCR::ABL1 fusion transcripts.
Accurate identification of fusion transcript variants is crucial for precise CML diagnosis and potentially tailored therapeutic strategies.