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Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation
Published on: November 26, 2018
Chronic lymphocytic leukemia presenting with ascites diagnosed by clonality analysis via gene rearrangement assay: A
Yen-Min Huang1, Lee-Yung Shih2, Po Dunn2
1Department of Internal Medicine, Division of Hematology and Oncology, Chang Gung Memorial Hospital, Keelung, Taoyun 33305, Taiwan, R.O.C. ; Department of Internal Medicine, Division of Hematology and Oncology, Chang Gung Memorial Hospital, Linkou, Taoyun 33305, Taiwan, R.O.C.
Insights
Diagnosing chronic lymphocytic leukemia (CLL) with ascites is challenging due to lymphocyte variations. Immunoglobulin gene rearrangement analysis offers a powerful method for accurate diagnosis in such cases.
Area of Science:
- Hematology
- Oncology
Background:
- Chronic lymphocytic leukemia (CLL) diagnosis typically relies on morphological and immunophenotypic analysis.
- Ascites in CLL patients can present diagnostic challenges due to lymphocyte pleomorphism.
Purpose of the Study:
- To investigate the utility of immunoglobulin (Ig) gene rearrangement analysis for diagnosing CLL presenting with ascites.
- To present a case study of an elderly male with CLL and large ascites.
Main Methods:
- Morphological and immunophenotypic analysis of ascites lymphocytes.
- Clonality analysis of immunoglobulin (Ig) gene rearrangements in ascites fluid.
- Confirmation via laparotomy and peritoneal node biopsy.
Main Results:
- Morphological and immunophenotypic analysis were difficult due to predominant T lymphocytes in ascites.
- Immunoglobulin (Ig) gene rearrangement analysis confirmed CLL involvement in the ascites.
- Biopsy confirmed small lymphocytic lymphoma/CLL in the peritoneal node.
Conclusions:
- Clonality analysis of immunoglobulin (Ig) gene rearrangements is a valuable tool for diagnosing CLL presenting with ascites.
- This method overcomes challenges posed by lymphocyte pleomorphism in ascites.
Abstract:
The diagnosis of chronic lymphocytic leukemia (CLL) presenting with ascites is predominantly based on the morphological and immunophenotypic characteristics, which are comparable to peripheral blood and bone marrow cells. However, it is relatively difficult to diagnose CLL due to the pleomorphism of the lymphocytes in ascites. The current study presents an 80-year-old male with a prior diagnosis of CLL who developed large ascites. Predominant T lymphocytes rendered morphological and immunophenotypic diagnosis difficult. Clonality analysis of immunoglobulin (Ig) gene rearrangements was performed on the lymphocytes from the ascites to diagnose the involvement of CLL, a laparotomy and biopsy from the peritoneal node confirmed the involvement of small lymphocytic lymphoma/CLL. The clonality analysis of Ig gene rearrangements may provide a powerful and accurate method for diagnosing CLL presenting with ascites.
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