PMID- 10748292
OWN - NLM
STAT- MEDLINE
DCOM- 20000502
LR  - 20190816
IS  - 0165-4608 (Print)
IS  - 0165-4608 (Linking)
VI  - 118
IP  - 2
DP  - 2000 Apr 15
TI  - A FISH study of variant Philadelphia rearrangements.
PG  - 121-31
AB  - A total of 39 variant Philadelphia (Ph) translocations were studied by 
      fluorescence in situ hybridization (FISH) using MBCR/ABL, mBCR/ABL, or DBCR/ABL 
      probes. Seven cases did not have a BCR/ABL fusion signal. Of a total of 32 
      fusion-positive cases, 5 were simple variants involving chromosome 22 and another 
      chromosome apart from chromosome 9; 23 were complex variants involving 
      chromosomes 22, 9, and a third chromosome (18 cases), or 22, 9, and two other 
      chromosomes (4 cases). Masked Ph rearrangements were detected in 4 cases. One 
      case was a Ph chromosome mimic. Fluorescence in situ hybridization has become a 
      widely used method for studying Ph rearrangements. The latest probe that is being 
      used is the DBCR/ABL (double reciprocal BCR/ABL signals). The expected pattern 
      for this probe is one green ABL signal (1G) on the normal 9, one red BCR signal 
      (1R) on the normal 22, and two fusion signals, BCR/ABL and ABL/BCR (2F), on a 
      derivative 22 and a derivative 9, respectively. Deviant patterns from 1G1R2F, and 
      sometimes 1G1R2F, were indicative of a variant, as long as there was a fusion 
      signal. However, in interphase analysis, it is not possible to visualize a 
      variant rearrangement, and when a deviant pattern involving at least one fusion 
      signal is observed, the following possibilities should be contemplated. The 
      different patterns observed in fifteen Ph variants are described. The patterns 
      observed in variants studied with the DBCR/ABL probe were 2G2R1F (40%), 1G1R2F 
      (20%), 1G1R1F (20%), 1G2R1F (13.3%), and 2G1R1F (6.66%). A single mechanism is 
      involved in the formation of each of these patterns. A 2G2R1F, FISH pattern in 6 
      cases appears to involve a single concerted event of simultaneous breaks on the 
      participating chromosomes followed by mismatched joining. The three cases with 
      1G1R2F most probably arose by two sequential rearrangements. The 1G1R1F pattern 
      suggests that either the BCR and ABL breakpoints are different, or there are 
      deletions at the breakpoints, because residual signals are not observed. Two 
      independent events appear to be involved in 1G2R1F with a reverse cryptic 9,22 
      rearrangement as the first event. In one case of 2G1R1F, the plausible 
      explanation is an insertion of ABL next to BCR and either a simultaneous or a 
      sequential translocation with another chromosome.
FAU - Reddy, K S
AU  - Reddy KS
AD  - Cytogenetic Laboratory, Quest Diagnostics Inc., Nichols Institute, San Juan 
      Capistrano, CA 92690, USA.
FAU - Sulcova, V
AU  - Sulcova V
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Cancer Genet Cytogenet
JT  - Cancer genetics and cytogenetics
JID - 7909240
RN  - 0 (Molecular Probes)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - *Chromosomes, Human, Pair 22
MH  - Genetic Variation
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Middle Aged
MH  - Molecular Probes
MH  - *Philadelphia Chromosome
EDAT- 2000/04/05 09:00
MHDA- 2000/05/08 09:00
CRDT- 2000/04/05 09:00
PHST- 2000/04/05 09:00 [pubmed]
PHST- 2000/05/08 09:00 [medline]
PHST- 2000/04/05 09:00 [entrez]
AID - S0165-4608(99)00187-9 [pii]
AID - 10.1016/s0165-4608(99)00187-9 [doi]
PST - ppublish
SO  - Cancer Genet Cytogenet. 2000 Apr 15;118(2):121-31. doi: 
      10.1016/s0165-4608(99)00187-9.