Variant Philadelphia Chromosome Identified by Interphase Fluorescence In Situ Hybridization (FISH) without Evidence on G-banded Karyotyping and Metaphase FISH
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A variant Philadelphia chromosome (Ph) is generated from translocation of one or more partner chromosomes in addition to chromosomes 9 and 22. We have described the cases of 2 patients bearing variant Ph detected by interphase FISH but not detected by G-banded karyotyping and metaphase FISH. FISH was performed using BCR/ABL dual color dual fusion translocation probes (Abbott Molecular, USA). A 52-year-old man was diagnosed with acute leukemia of mixed phenotype. G-banded karyotyping showed 46,XY,t(9;22)(q34;q11.2)[12]/47,idem,+der(22)t(9;22)[5]/46,XY[3]. Interphase FISH revealed nuc ish(ABL1,BCR)×3(ABL1 con BCR×2)[329/450]/(ABL1,BCR)×4(ABL1 con BCR×3)[5/450]/(AL1,BCR)×3(ABL1 con BCR×1)[44/450]. Metaphase FISH showed ish (9;22)(ABL1+,BCR1+;BCR+,ABL+)[22]/der(22)(BCR+,ABL1+)[3]. The other case was that of a 31-yr-old male patient diagnosed with CML in the blastic phase. G-banded karyotyping of all 20 metaphase cells showed 47,XYYc,dup(1)(q21q32),del(7)(p11.2),t(9;22)(q34;q11.2). Interphase FISH revealed nuc ish(ABL1,BCR)×3(ABL1 con BCR×2)[254/600]/(ABL1,BCR)×3(ABL1 con BCR×1)[191/600]. Metaphase FISH showed ish t(9;22)(ABL1+,BCR+;BCR+,ABL1+)[16]. These results suggest that typical t(9;22) and variant Ph may coexist in the same patient, and interphase FISH may facilitate the detection of the variant Ph that cannot be detected by G-banded karyotyping alone. (Korean J Lab Med 2010;30:711-7)
Abstract
A variant Philadelphia chromosome (Ph) is generated from translocation of one or more partner chromosomes in addition to chromosomes 9 and 22. We have described the cases of 2 patients bearing variant Ph detected by interphase FISH but not detected by G-banded karyotyping and metaphase FISH. FISH was performed using BCR/ABL dual color dual fusion translocation probes (Abbott Molecular, USA). A 52-year-old man was diagnosed with acute leukemia of mixed phenotype. G-banded karyotyping showed 46,XY,t(9;22)(q34;q11.2)[12]/47,idem,+der(22)t(9;22)[5]/46,XY[3]. Interphase FISH revealed nuc ish(ABL1,BCR)×3(ABL1 con BCR×2)[329/450]/(ABL1,BCR)×4(ABL1 con BCR×3)[5/450]/(AL1,BCR)×3(ABL1 con BCR×1)[44/450]. Metaphase FISH showed ish (9;22)(ABL1+,BCR1+;BCR+,ABL+)[22]/der(22)(BCR+,ABL1+)[3]. The other case was that of a 31-yr-old male patient diagnosed with CML in the blastic phase. G-banded karyotyping of all 20 metaphase cells showed 47,XYYc,dup(1)(q21q32),del(7)(p11.2),t(9;22)(q34;q11.2). Interphase FISH revealed nuc ish(ABL1,BCR)×3(ABL1 con BCR×2)[254/600]/(ABL1,BCR)×3(ABL1 con BCR×1)[191/600]. Metaphase FISH showed ish t(9;22)(ABL1+,BCR+;BCR+,ABL1+)[16]. These results suggest that typical t(9;22) and variant Ph may coexist in the same patient, and interphase FISH may facilitate the detection of the variant Ph that cannot be detected by G-banded karyotyping alone. (Korean J Lab Med 2010;30:711-7)
참고문헌 (14)
- Gorusu M, "On the genesis and prognosis of variant translocations in chronic myeloid leukemia", Cancer Genet Cytogenet, 173, pp.97~106 (2007)
- So CC, "A dual colour dual fusion fluorescence in situ hybridisation study on the genesis of complex variant translocations in chronic myelogenous leukaemia", Oncol Rep, 19, pp.1181~1184 (2008)
- Richebourg S, "Mechanisms of genesis of variant translocation in chronic myeloid leukemia are not correlated with ABL1 or BCR deletion status or response to imatinib therapy", Cancer Genet Cytogenet, 182, pp.95~102 (2008)
- Bennour A, "Molecular cytogenetic characterization of variant Philadelphia translocations in chronic myeloid leukemia: genesis and deletion of derivative chromosome 9", Cancer Genet Cytogenet, 194, pp.30~37 (2009)
- Mark HF, "Conventional cytogenetics and FISH in the detection of BCR", ABL fusion in chronic myeloid leukemia (CML), 2006, pp.81, 1~7
- Shaffer LG, "ISCN 2009: an international system for human cytogenetic nomenclature (2009)" (2009), Karger
- O′Brien S, "Cytogenetics of chronic myelogenous leukaemia", Baillieres Clin Haematol, 10, pp.259~276 (1997)
- El-Zimaity MM, "Results of imatinib mesylate therapy in chronic myelogenous leukaemia with variant Philadelphia chromosome", Br J Haematol, 125, pp.187~195 (2004)
- Johansson B, "Cytogenetic and molecular genetic evolution of chronic myeloid leukemia", Acta Haematol, 107, pp.76~94 (2002)
- Sandberg AA, "Chromosomes and causation of human cancer and leukemia: XL. The Ph1 and other translocations in CML", Cancer, 46, pp.2221~2226 (1980)
- Loncarevic IF, "Heterogenic molecular basis for loss of ABL1-BCR transcription:deletions in der(9)t(9;22) and variants of standard t(9;22) in BCRABL1-positive chronic myeloid leukemia", Genes Chromosomes Cancer, 34, pp.193~200 (2002)
- Reid AG, "Survival implications of molecular heterogeneity in variant Philadelphiapositive chronic myeloid leukaemia", Br J Haematol, 121, pp.419~427 (2003)
- Yuregir OO, "Fluorescent in situ hybridization studies in multiple myeloma", Hema tology, 14, pp.90~94 (2009)
- Chen L, "Molecular cytogenetic aberrations in patients with multiple myeloma studied by interphase fluorescence in situ hybridization", Exp Oncol, 29, pp.116~120 (2007)