Dysregulation of Telomere Lengths and Telomerase Activity in Myelodysplastic Syndrome
2017; 37(3): 195-203
Korean J Lab Med 2010; 30(6): 711-717
Published online December 1, 2010 https://doi.org/10.3343/kjlm.2010.30.6.711
Copyright © Korean Society for Laboratory Medicine.
Mi Kyung Kim, M.D.1, Yeung Chul Mun, M.D.2, Chu Myong Seong, M.D.2, Wha Soon Chung, M.D.1, and Jungwon Huh, M.D.1
Departments of Laboratory Medicine1 and Internal Medicine2, Ewha Womans University School of Medicine, Seoul, Korea
Correspondence to: Jungwon Huh, M.D.
Department of Laboratory Medicine, Ewha Womans University Mokdong Hospital, 911-1 Mok-dong, Yangcheon-gu, Seoul 158-710, Korea
Tel : +82-2-2650-5287, Fax : +82-2-2650-5091
E-mail : JungWonH@ewha.ac.kr
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
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.
Keywords: Philadelphia chromosome, Variant, FISH, Interphase, Metaphase