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Updated: Aug 8, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 24, 2011
Translocation (3;5)(p26;q13) in a patient with chronic T-cell lymphoproliferative disorder
H H Schmidt1, H Pirc-Danoewinata, E R Panzer-Grümayer
1Department of Internal Medicine, University of Graz, Austria.
Insights
This study details a rare case of large granular lymphocyte (LGL) leukemia in a 67-year-old patient. A novel t(3;5) translocation was identified, suggesting a new mechanism in T-cell leukemia development.
Area of Science:
- Hematology
- Oncology
- Genetics
Background:
- Large granular lymphocyte (LGL) leukemia is a rare lymphoproliferative disorder.
- Understanding the genetic underpinnings of LGL leukemia is crucial for diagnosis and treatment.
Observation:
- A 67-year-old patient presented with LGL leukemia.
- Fluorescence-activated cell sorting (FACS) revealed a CD3+, CD4+, CD5+, CD29+, CD45RA+, CD57+, TCR alpha/beta+ lymphocyte population.
- Bone marrow examination showed no lymphocyte infiltration.
Findings:
- Cytogenetic analysis identified a novel karyotype: 46,XY,t(3;5)(p26;q13).
- Molecular analysis confirmed rearrangement of the gamma-T-cell-receptor chain.
- The translocation involves the 3p25-3p26 region, known to harbor tumor suppressor and oncogenes.
Implications:
- This newly described translocation may represent an alternative mechanism in the pathogenesis of T-cell leukemia.
- Further research into this translocation could provide new insights into LGL leukemia development.
- Identifying novel genetic alterations is key to advancing targeted therapies for leukemia.
Abstract:
A 67-year-old patient with large granular lymphocyte (LGL) leukemia is described. At fluorescence-activated cell sorting (FACS) analysis of the peripheral blood, the lymphocytes were positive for CD3, CD4, CD5, CD29, CD45RA, CD57, and TCR alpha/beta and negative for CD7, CD8, CD16, CD56, CD19, CD22, and TCR gamma/delta. Bone marrow histology and immunohistochemistry did not reveal any lymphocyte infiltration. Cytogenetic examination of peripheral blood cultures showed a clone with the karyotype 46,XY,t(3;5)(p26;q13). Molecular analysis revealed rearrangement of the gamma-T-cell-receptor chain. The region 3p25-3p26 which harbors the von Hippel-Lindau tumor suppressor gene and the RAF1 oncogene has been rearranged in a few cases of T-cell leukemia. The translocation in this case has not yet been described and may reflect an alternative mechanism in the pathogenesis of these disorders.
