Leukaemia Section Short Communication
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چکیده
The breakpoint on chromosome 20 is not constant; 20qis frequently associated with other cytogenetic abnormalities as del(5q), trisomy 8, trisomy 21, deletions or translocations involving the long arm of chromosome 13; a newly described translocation t(11;20)(p15;q11) resulting in a NUP98TOP1 fusion gene was described in therapy-related myelodysplastic syndrome (RAEB); t(11;20)(p15;q11) is a rare recurrent translocation reported in patients with MDS, ANLL and polycythemia vera.
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Leukaemia Section Short Communication
Disease Myelodysplastic syndrome (21 cases), Acute Myeloid Leukemia (5 cases), Chronic Myelomonocytic Leukemia (1 case). Phenotype/cell stem origin Thrombopenia (90%) with anemia (60%). Dysplastic changes in bone marrow: dyserythropoeisis associated with dysgranulopoieisis and/or dysmegakaryocytopoeisis. Epidemiology The frequency of ider(20q) is estimated at 0.49% in myelodysplastic syndrome a...
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Clinics and pathology Disease De novo ANLL; (one case of blast crisis CML). Phenotype / cell stem origin Mainly M2 or M4, but also M1, M5a, M5b, or M7 ANLL; may be preceded by MDS. Epidemiology About 30 reported cases, mainly found in young adults; children cases are described; median age is about 30 yrs; balanced sex ratio. Clinics Blood data: anemia, thrombocytopenia, mild hyperleucocytosis; ...
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Although the underlying mechanism for these chromosomal alterations is unclear, it is possible that chromosomes with large constitutive heterochromatin bands such as chromosome 1 may be at risk of centromeric instability and be predisposed to centromeric fusion with other chromosomes. This possibility is supported by observations that unbalanced chromosome rearrangements frequently involve the ...
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Genes involved and proteins TAL1 Location 1p32 DNA/RNA Complex alternate splicing. Protein Contains a basic Helix-Loop-Helix (DNA binding) domain; forms heterodimers; transcription factor; role in haematopoietic cell differentiation. Yet unknown gene Location 5q31 Result of the chromosomal anomaly Hybrid gene Description Breakpoint on TAL1 was found 10 kb upstream the gene, as was found in the ...
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Few studies focused on B-PLL; the use of B-cell mitogens might increase the detection rate of cytogenetic changes; the most frequent aberrations involve chromosomes 14, 6 and 1; 14q+ changes are the most commonly observed and are often the consequence of a translocation t(11;14)(q13;q32); structural abnormalities of chromosome 6 are primary or secondary; deletion 6q, as well as translocation t(...
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