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[Richter's syndrome with identical immunoglobulin gene rearrangements]
Insights
This study reports a rare case of Richter's syndrome, where chronic lymphocytic leukemia (CLL) transformed into diffuse large cell non-Hodgkin lymphoma (NHL-DL). DNA analysis confirmed both lymphomas originated from the same clone.
Area of Science:
- Hematology
- Oncology
- Immunology
Background:
- Chronic lymphocytic leukemia (CLL) is a common B-cell malignancy.
- Richter's syndrome is the transformation of CLL into an aggressive lymphoma, most commonly diffuse large B-cell lymphoma (DLBCL).
- This transformation is rare, occurring in approximately 2-10% of CLL patients.
Observation:
- A 75-year-old male presented with hepatosplenomegaly, lymphadenopathy, and marked lymphocytosis.
- Initial diagnosis was CLL with 95% small lymphocytes expressing SmIgM, D, and kappa.
- After initial treatment for CLL, the patient developed generalized lymphadenopathy and increased white blood cell counts, with lymph node biopsy revealing diffuse large cell non-Hodgkin lymphoma (NHL-DL).
Findings:
- The patient was diagnosed with Richter's syndrome.
- DNA analysis demonstrated identical immunoglobulin heavy and kappa chain gene rearrangements in both the CLL and NHL-DL cells.
- This indicates that both neoplastic proliferations originated from the same clonal B-cell population.
Implications:
- This case provides molecular evidence supporting a common clonal origin for CLL and Richter's syndrome.
- Understanding the clonal evolution in Richter's syndrome is crucial for developing targeted therapies.
- Further research into the genetic and molecular mechanisms driving this transformation is warranted.
Abstract:
A 75-year-old man was admitted to our hospital because of hepatosplenomegaly, generalized lymphadenopathy and lymphocytosis in February, 1989. The leukocyte counts were 93,200/microliters with 95% small lymphocytes which expressed surface membrane immunoglobulin (SmIg) M, D and kappa. Histological finding of the cervical lymph node was diffuse small cell lymphoma. A diagnosis of chronic lymphocytic leukemia (CLL) was made. He was followed up without chemotherapy. In January, 1990, he was re-admitted because of progressively enlarged lymph nodes and increased white blood cell counts, up to 183,200/microliters with 98% lymphocytes. He was treated with vincristine, cyclophosphamide, prednisolone. The leukocyte counts decreased to 5,000/microliters and lymph node swelling decreased in size. In April, 1990, generalized lymphadenopathy re-appeared. The biopsied lymph node specimen showed diffuse large cell non-Hodgkin lymphoma (NHL-DL). The lymph node cells were found to express SmIgM and kappa. The diagnosis of Richter's syndrome was made. DNA analysis using Southern blot method revealed identical immunoglobulin heavy and kappa chain gene rearrangements in the two neoplasms. These findings suggest that the CLL cells and the NHL-DL cells originate from the same clone in this case.