Variant Philadelphia Chromosome Identified by Interphase Fluorescence In Situ Hybridization (FISH) without Evidence on G-banded Karyotyping and Metaphase FISH.
10.3343/kjlm.2010.30.6.711
- Author:
Mi Kyung KIM
1
;
Yeung Chul MUN
;
Chu Myong SEONG
;
Wha Soon CHUNG
;
Jungwon HUH
Author Information
1. Department of Laboratory Medicine, Ewha Womans University School of Medicine, Seoul, Korea. JungWonH@ewha.ac.kr
- Publication Type:Case Report ; English Abstract
- Keywords:
Philadelphia chromosome;
Variant;
FISH;
Interphase;
Metaphase
- MeSH:
Adult;
Chromosomes, Human, Pair 22;
Chromosomes, Human, Pair 9;
Humans;
In Situ Hybridization, Fluorescence/*methods;
Interphase;
Karyotyping;
Leukemia/diagnosis/genetics;
Leukemia, Myelogenous, Chronic, BCR-ABL Positive/diagnosis/genetics;
Male;
Metaphase;
Middle Aged;
Phenotype;
*Philadelphia Chromosome;
Translocation, Genetic
- From:The Korean Journal of Laboratory Medicine
2010;30(6):711-717
- CountryRepublic of Korea
- Language:Korean
-
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)x3(ABL1 con BCRx2)[329/450]/(ABL1,BCR)x4(ABL1 con BCRx3)[5/450]/(AL1,BCR)x3(ABL1 con BCRx1)[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)x3(ABL1 con BCRx2)[254/600]/(ABL1,BCR)x3(ABL1 con BCRx1)[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.
