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Tetrasomy 8 in a patient with chronic lymphocytic leukemia
Fábio Morato de Oliveira1, Renata Amorim Brandão, Sabrina Dias Leite-Cueva
1Department of Internal Medicine, Division of Hematology, School of Medicine of Ribeirão Preto, University of São Paulo, 14049-900 Ribeirão Preto, SP, Brazil. fabiomorato@usp.br
Insights
This study describes a rare case of chronic lymphocytic leukemia (CLL) with tetrasomy 8, an extra two copies of chromosome 8. This unique chromosomal abnormality in CLL requires further investigation for its prognostic significance.
Area of Science:
- Hematology
- Cytogenetics
- Oncology
Background:
- Chronic lymphocytic leukemia (CLL) is a heterogeneous lymphoproliferative disorder.
- Chromosomal abnormalities are crucial for CLL diagnosis and prognosis.
- Tetrasomy 8 is a rare cytogenetic finding in hematological malignancies.
Observation:
- A 47-year-old male patient with CLL presented with tetrasomy 8 as the sole chromosomal abnormality.
- Classical cytogenetics and spectral karyotyping revealed tetrasomy 8 in metaphase cells.
- Interphase fluorescence in situ hybridization confirmed tetrasomy 8 in peripheral blood cells.
Findings:
- Tetrasomy 8 was identified in 60% of metaphase cells via cytogenetics and 54% of interphase cells via FISH.
- This represents a novel finding, as tetrasomy 8 as the sole abnormality in CLL has not been previously reported.
- The patient has remained clinically stable since 2004 without requiring treatment.
Implications:
- The prognostic value of tetrasomy 8 in CLL needs further research.
- This case expands the understanding of chromosomal aberrations in CLL.
- Further studies are warranted to determine the clinical impact of tetrasomy 8 in CLL patients.
Abstract:
We report a case of a 47-year-old man diagnosed with chronic lymphocytic leukemia (CLL) with two extra copies of chromosome 8. Classical cytogenetic analysis by the immunostimulatory combination of DSP30 and interleukin 2 showed tetrasomy of chromosome 8 in 60% of the metaphase cells (48,XY,+8,+8[12]/46,XY[8]). Spectral karyotype analysis confirmed the abnormality previously seen by G banding. Additionally, interphase fluorescence in situ hybridization using an LSI CEP 8 probe performed on peripheral blood cells without any stimulant agent showed tetrasomy of chromosome 8 in 54% of analyzed cells (108 of 200). To our knowledge, tetrasomy 8 as the sole chromosomal abnormality in CLL has not been previously described. The prognostic significance of tetrasomy 8 in CLL remains to be elucidated. However, the patient has been followed up in the outpatient hospital since 2004 without any therapeutic intervention and has so far remained stable.
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