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Published on: January 14, 2017
An unusual case of leukemic non-Hodgkin's lymphoma with blastic transformation
E Späth-Schwalbe1, B Flath, O Kaufmann
1Department of Internal Medicine, Medical Oncology and Hematology, Institute of Pathology and Institute of Medical Genetics, University Hospital Charité, Humboldt University, Berlin, Germany.
Insights
This case study highlights an unusual presentation of B-cell chronic lymphocytic leukemia (CLL) that transformed into aggressive lymphoma. Comprehensive diagnostic studies are crucial for accurate diagnosis and understanding complex lymphoid malignancies.
Area of Science:
- Hematology
- Oncology
- Molecular Biology
Background:
- B-cell chronic lymphocytic leukemia (CLL) is typically characterized by specific immunophenotypic markers.
- Small lymphocytic lymphoma (SLL) shares features with CLL but presents primarily in lymph nodes.
Observation:
- A patient initially diagnosed with atypical B-cell CLL exhibited transformation to aggressive lymphoma with lymphoid blasts.
- Unusual clinical features included blasts in peripheral blood and nodular infiltrates at venous puncture sites.
- The patient showed resistance to chemotherapy, leading to a fatal outcome.
Findings:
- Immunophenotyping of blasts revealed CD5-, CD19+, CD23+ markers.
- Cytogenetic analysis identified t(11;14) and t(11;21) translocations in the lymphoid blasts.
- Molecular genetic analysis confirmed identical clones in spleen, bone marrow, and lymph node tissues, suggesting a single underlying malignancy.
Implications:
- This case underscores the importance of integrated diagnostic approaches, including morphology, immunophenotyping, cytogenetics, and molecular studies, for complex lymphoid malignancies.
- Accurate diagnosis is critical for appropriate treatment strategies in leukemic non-Hodgkin's lymphoma.
- Understanding the genetic underpinnings of blastic transformation in CLL can inform future therapeutic targets.
Abstract:
We report on a patient who was diagnosed as having B-cell chronic lymphocytic leukemia (CLL) with atypical morphology. Flow cytometry disclosed CD5, CD19, and CD23 positivity, an immunophenotype seen mostly in B-CLL. Histology of the spleen and bone marrow suggested a diagnosis of small lymphocytic lymphoma. Upon blastic transformation, only 3 years after the diagnosis had been made, unusual clinical and laboratory features emerged. Lymphoid blasts appeared in the peripheral blood, and the patient developed nodular infiltrates consisting of these blasts at recent venous puncture sites. The patient did not respond to chemotherapy and died. The lymphoid blasts in the peripheral blood were CD5-, CD19+, and CD23+ and harbored t(11;14) (q13;q32) and t(11;21)(p11;q21) translocations. To account for the possibility of two independent lymphoid malignancies, molecular genetic analyses were performed on samples from the spleen, bone marrow and a lymph node with the large-cell lymphoma, which showed identical clones in these tissues. This unusual case supports the idea that in leukemic non-Hodgkin's lymphoma, in addition to morphology, an accurate diagnostic workup requires immunophenotypic, cytogenetic, and molecular studies.

