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Updated: Aug 25, 2025
VDJ-Seq: Deep Sequencing Analysis of Rearranged Immunoglobulin Heavy Chain Gene to Reveal Clonal Evolution Patterns of B Cell Lymphoma
Published on: December 28, 2015
PAX5 P80R-mutated B-cell acute lymphoblastic leukemia with transformation to histiocytic sarcoma: clonal evolution
Leonie I Kroeze1, B Scheijen2,3, K M Hebeda2
1Department of Pathology, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525GA, Nijmegen, the Netherlands. leonie.kroeze@radboudumc.nl.
Insights
Next-generation sequencing (NGS) identified immunoglobulin (IG) gene rearrangements in a patient with B-cell acute lymphoblastic leukemia (B-ALL) and subsequent histiocytic sarcoma (HS). This analysis revealed clonal evolution, showing one B-ALL subclone developing into HS after acquiring a RAF1 mutation.
Area of Science:
- Hematology
- Oncology
- Genetics
Background:
- Clonality assessment using immunoglobulin (IG) gene rearrangements is crucial for distinguishing related lymphoid malignancies.
- Understanding clonal evolution in sequential cancers aids in clinicobiological insights.
Purpose of the Study:
- To detail the clonality analysis in a patient with sequential B-cell acute lymphoblastic leukemia (B-ALL) and histiocytic sarcoma (HS).
- To investigate clonal evolution using next-generation sequencing (NGS) for IG rearrangements and gene mutations.
Main Methods:
- Next-generation sequencing (NGS) was employed to detect IG gene rearrangements and identify gene mutations.
- Clonality analysis was performed on samples from a patient with sequential B-ALL and HS.
Main Results:
- NGS identified multiple related subclones within the PAX5 P80R-mutated B-ALL.
- One specific subclone evolved into HS, acquiring a RAF1 mutation.
- The study successfully tracked clonal evolution from B-ALL to HS.
Conclusions:
- NGS-based IG clonality assessment and mutation analysis are valuable for comparing cancer clones.
- This approach enhances clinicobiological understanding of sequential malignancies.
- The findings highlight the utility of NGS in deciphering complex cancer evolution.
Abstract:
Clonality assessment by the detection of immunoglobulin (IG) gene rearrangements is an important method to determine whether two concurrent or subsequent lymphoid malignancies in one patient are clonally related. Here, we report the detailed clonality analysis in a patient with a diagnosis of B-cell acute lymphoblastic leukemia (B-ALL) followed by a histiocytic sarcoma (HS), in which we were able to study clonal evolution by applying next generation sequencing (NGS) to identify IG rearrangements and gene mutations. Using the sequence information of the NGS-based IG clonality analysis, multiple related subclones could be distinguished in the PAX5 P80R-mutated B-ALL. Notably, only one of these subclones evolved into HS after acquiring a RAF1 mutation. This case demonstrates that NGS-based IG clonality assessment and mutation analysis provide clear added value for clonal comparison and thereby improves clinicobiological understanding.
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