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Updated: Jan 21, 2026
09:02
Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation
Published on: November 26, 2018
22.3K
Targeted sequencing aids in identifying clonality in chronic myelomonocytic leukemia.
Sang Mee Hwang1, Sung-Min Kim2, Youngwon Nam1
1Department of Laboratory Medicine, Seoul National University Bundang Hospital, Seongnam, Republic of Korea; Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea.
Leukemia Research
|August 5, 2019
Summary
Molecular analysis reveals common mutations in chronic myelomonocytic leukemia (CMML) patients. These genetic variants, particularly in ASXL1 and SRSF2, are crucial for diagnosing CMML and predicting patient outcomes.
Area of Science:
- Hematology
- Molecular Biology
- Oncology
Background:
- Chronic myelomonocytic leukemia (CMML) presents with monocytosis in peripheral blood, requiring differentiation from reactive causes.
- Determining clonality is essential for accurate CMML diagnosis and management.
Purpose of the Study:
- To investigate the molecular landscape and clonality of CMML in Korean patients.
- To identify frequently mutated genes and their correlation with clinical outcomes.
Main Methods:
- Targeted sequencing of 35 CMML patients and 41 bone marrow samples.
- Single-cell sequencing on selected monocytes, neutrophils, and lymphocytes.
- Morphology-aided laser microdissection for cell selection.
Main Results:
- 94.3% of patients had at least one mutation in therapeutically relevant genes.
- ASXL1 (54.3%), SRSF2 (37.1%), and NRAS (31.4%) were the most frequent mutations.
- SETBP1 mutation and multiple variants correlated with poorer survival.
Conclusions:
- Targeted and single-cell sequencing are effective for CMML clonality detection.
- Mutations are often present in pluripotent stem cells, affecting multiple cell lineages.
- Molecular profiling aids in CMML diagnosis, prognosis, and potential therapeutic targeting.
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