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Variant Philadelphia chromosome identified by interphase fluorescence in situ hybridization (FISH) without evidence on G-banded karyotyping and metaphase FISH

Title
Variant Philadelphia chromosome identified by interphase fluorescence in situ hybridization (FISH) without evidence on G-banded karyotyping and metaphase FISH
Authors
Kim M.K.Mun Y.C.Seong C.M.Chung W.S.Huh J.
Ewha Authors
정화순성주명허정원문영철
SCOPUS Author ID
정화순scopus; 성주명scopus; 허정원scopus; 문영철scopus
Issue Date
2010
Journal Title
Korean Journal of Laboratory Medicine
ISSN
1598-6535JCR Link
Citation
vol. 30, no. 6, pp. 711 - 717
Indexed
SCOPUS WOS scopus
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. © The Korean Society for Laboratory Medicine.
DOI
10.3343/kjlm.2010.30.6.711
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의학전문대학원 > 의학과 > Journal papers
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