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A novel t(3;12)(q21;p13) translocation in a patient with accelerated chronic myeloid leukemia after imatinib and nilotinib therapy.

Bennour A, Tabka I, Ben Youssef Y, Kmeira Z, Khelif A, Saad A, Sennana H - Cancer Biol Med (2013)

Bottom Line: T(3;12)(q26;p13), which is a recurrent chromosomal aberration observed in myeloid malignancies, is typically associated with dysplasia of megakaryocytes, multilineage involvement, short duration of any blastic phase, and extremely poor prognosis.We confirmed the t(3;12)(q21;p13) translocation via fluorescence in situ hybridization assay by using whole-chromosome paint probes for chromosomes 3 and 12.Our findings demonstrate that, similar to other recurrent translocations involving 3q26 such as t(3;3) and t(3;21), the t(3;12)(q21;p13) translocation is implicated not only in myelodysplastic syndrome and acute myeloid leukemia but also in the progression of CML.

View Article: PubMed Central - PubMed

Affiliation: Department of Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Teaching Hospital, Sousse 4000, Tunisia;

ABSTRACT
The acquisition of secondary chromosomal aberrations in chronic myeloid leukemia (CML) patients with Philadelphia chromosome-positive (Ph+) karyotype signifies clonal evolution associated with the progression of the disease to its accelerated or blastic phase. Therefore, these aberrations have clinical and biological significance. T(3;12)(q26;p13), which is a recurrent chromosomal aberration observed in myeloid malignancies, is typically associated with dysplasia of megakaryocytes, multilineage involvement, short duration of any blastic phase, and extremely poor prognosis. We have identified a recurrent reciprocal translocation between chromosomes 3 and 12 with different breakpoint at bands 3q21 in the malignant cells from a 28-year-old man. The patient was initially diagnosed as having Ph+ CML in the chronic phase. The t(3;12)(q21;p13) translocation occurred 4 years after the patient was first diagnosed with CML while undergoing tyrosine kinase inhibitor therapy. We confirmed the t(3;12)(q21;p13) translocation via fluorescence in situ hybridization assay by using whole-chromosome paint probes for chromosomes 3 and 12. Our findings demonstrate that, similar to other recurrent translocations involving 3q26 such as t(3;3) and t(3;21), the t(3;12)(q21;p13) translocation is implicated not only in myelodysplastic syndrome and acute myeloid leukemia but also in the progression of CML. These findings extend the disease spectrum of this cytogenetic aberration.

No MeSH data available.


Related in: MedlinePlus

FISH analysis of the metaphase cell of the patient: chromosome painting [chromosomes 3 (green) and 12 (red)] displays an insertion of chromosome 3 material into chromosome 12.
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f2: FISH analysis of the metaphase cell of the patient: chromosome painting [chromosomes 3 (green) and 12 (red)] displays an insertion of chromosome 3 material into chromosome 12.

Mentions: Bone marrow aspiration concluded to an accelerated phase with 14% blastic cells (17% promyelocytes, 34% neutrophils, 20% eosinophils, and 6% erythroblasts) as well as an average bone marrow cellularity with rare megakaryocytes, platelets, and 21% myelocytes and metamyelocytes. Conventional karyotype analysis revealed additional recurrent translocation with t(9;22):46,XY,t(3;12)(q21;p13), t(9;22)(q34;q11) (Figure 1), which was confirmed with FISH by using whole-chromosome paint probes for chromosomes 3 and 12 (Figure 2).


A novel t(3;12)(q21;p13) translocation in a patient with accelerated chronic myeloid leukemia after imatinib and nilotinib therapy.

Bennour A, Tabka I, Ben Youssef Y, Kmeira Z, Khelif A, Saad A, Sennana H - Cancer Biol Med (2013)

FISH analysis of the metaphase cell of the patient: chromosome painting [chromosomes 3 (green) and 12 (red)] displays an insertion of chromosome 3 material into chromosome 12.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3643689&req=5

f2: FISH analysis of the metaphase cell of the patient: chromosome painting [chromosomes 3 (green) and 12 (red)] displays an insertion of chromosome 3 material into chromosome 12.
Mentions: Bone marrow aspiration concluded to an accelerated phase with 14% blastic cells (17% promyelocytes, 34% neutrophils, 20% eosinophils, and 6% erythroblasts) as well as an average bone marrow cellularity with rare megakaryocytes, platelets, and 21% myelocytes and metamyelocytes. Conventional karyotype analysis revealed additional recurrent translocation with t(9;22):46,XY,t(3;12)(q21;p13), t(9;22)(q34;q11) (Figure 1), which was confirmed with FISH by using whole-chromosome paint probes for chromosomes 3 and 12 (Figure 2).

Bottom Line: T(3;12)(q26;p13), which is a recurrent chromosomal aberration observed in myeloid malignancies, is typically associated with dysplasia of megakaryocytes, multilineage involvement, short duration of any blastic phase, and extremely poor prognosis.We confirmed the t(3;12)(q21;p13) translocation via fluorescence in situ hybridization assay by using whole-chromosome paint probes for chromosomes 3 and 12.Our findings demonstrate that, similar to other recurrent translocations involving 3q26 such as t(3;3) and t(3;21), the t(3;12)(q21;p13) translocation is implicated not only in myelodysplastic syndrome and acute myeloid leukemia but also in the progression of CML.

View Article: PubMed Central - PubMed

Affiliation: Department of Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Teaching Hospital, Sousse 4000, Tunisia;

ABSTRACT
The acquisition of secondary chromosomal aberrations in chronic myeloid leukemia (CML) patients with Philadelphia chromosome-positive (Ph+) karyotype signifies clonal evolution associated with the progression of the disease to its accelerated or blastic phase. Therefore, these aberrations have clinical and biological significance. T(3;12)(q26;p13), which is a recurrent chromosomal aberration observed in myeloid malignancies, is typically associated with dysplasia of megakaryocytes, multilineage involvement, short duration of any blastic phase, and extremely poor prognosis. We have identified a recurrent reciprocal translocation between chromosomes 3 and 12 with different breakpoint at bands 3q21 in the malignant cells from a 28-year-old man. The patient was initially diagnosed as having Ph+ CML in the chronic phase. The t(3;12)(q21;p13) translocation occurred 4 years after the patient was first diagnosed with CML while undergoing tyrosine kinase inhibitor therapy. We confirmed the t(3;12)(q21;p13) translocation via fluorescence in situ hybridization assay by using whole-chromosome paint probes for chromosomes 3 and 12. Our findings demonstrate that, similar to other recurrent translocations involving 3q26 such as t(3;3) and t(3;21), the t(3;12)(q21;p13) translocation is implicated not only in myelodysplastic syndrome and acute myeloid leukemia but also in the progression of CML. These findings extend the disease spectrum of this cytogenetic aberration.

No MeSH data available.


Related in: MedlinePlus