PMID- 25435721
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20141201
LR  - 20200930
IS  - 0971-4502 (Print)
IS  - 0974-0449 (Electronic)
IS  - 0971-4502 (Linking)
VI  - 30
IP  - 4
DP  - 2014 Dec
TI  - Location of the BCR/ABL Fusion Genes on Both Chromosomes 9 in Ph Negative Young 
      CML Patients: An Indian Experience.
PG  - 241-6
LID - 10.1007/s12288-013-0316-6 [doi]
AB  - The BCR/ABL gene rearrangement is cytogenetically visualized in most chronic 
      myeloid leukemia (CML) cases. About 5-10 % of CML patients lack its cytogenetic 
      evidence, however, shows BCR/ABL fusion by molecular methods. We describe two CML 
      patients with Philadelphia (Ph) negative (-ve) and BCR/ABL positive by 
      fluorescence in situ hybridization (FISH). Both the cases were in chronic phase 
      at diagnosis. Conventional cytogenetics and different FISH assays were adopted 
      using BCR/ABL probes. Home-brew FISH assay using bacterial artificial clone (BAC) 
      for BAC-CTA/bk 299D3 for chromosomal region 22q13.31-q13.32 was performed in case 
      1. Both the patients were Ph-ve. In first case, dual color dual fusion 
      (DCDF)-FISH studies revealed 1 Red (R) 2 Green (G) 1 Fusion (F) signal pattern in 
      80 % of cells indicating BCR/ABL fusion signals on chromosomes 9 instead of Ph 
      and 2G2F signal pattern in 20 % of cells indicating two BCR/ABL fusions on both 
      chromosomes 9q34 on presentation. In second case, FISH studies revealed the 
      1R1G1F signal pattern indicating BCR/ABL fusion signals on chromosomes 9 instead 
      of Ph in 100 % of cells at presentation. During follow-up, both the patients 
      exhibited 2G2F signal pattern indicating two BCR/ABL fusions on both chromosomes 
      9q34, which indicated a clonal evolution in 100 % cells. Both the patients did 
      not achieve therapeutic response. Relocation of BCR/ABL fusion sequence on sites 
      other than 22q11 represents a rare type of variant Ph, the present study 
      highlights the hot spots involved in CML pathogenesis and signifies their 
      implications in Ph-ve BCR/ABL positive CML. This study demonstrated the genetic 
      heterogeneity of this subgroup of CML and strongly emphasized the role of 
      metaphase FISH, especially in Ph-ve CML cases, as it detects variations of the 
      classical t(9;22).
FAU - Brahmbhatt, Manisha M
AU  - Brahmbhatt MM
AD  - Cell Biology Division, The Gujarat Cancer & Research Institute, Asarwa, 
      Ahmedabad, 380016 Gujarat India.
FAU - Trivedi, Pina J
AU  - Trivedi PJ
AD  - Cell Biology Division, The Gujarat Cancer & Research Institute, Asarwa, 
      Ahmedabad, 380016 Gujarat India.
FAU - Patel, Dharmesh M
AU  - Patel DM
AD  - Cell Biology Division, The Gujarat Cancer & Research Institute, Asarwa, 
      Ahmedabad, 380016 Gujarat India.
FAU - Shukla, Shilin N
AU  - Shukla SN
AD  - Medical Oncology Department, The Gujarat Cancer & Research Institute, Asarwa, 
      Ahmedabad, 380016 India.
FAU - Patel, Prabhudas S
AU  - Patel PS
AD  - Cell Biology Division, The Gujarat Cancer & Research Institute, Asarwa, 
      Ahmedabad, 380016 Gujarat India.
LA  - eng
PT  - Journal Article
DEP - 20140122
PL  - India
TA  - Indian J Hematol Blood Transfus
JT  - Indian journal of hematology & blood transfusion : an official journal of Indian 
      Society of Hematology and Blood Transfusion
JID - 9425818
PMC - PMC4243418
OTO - NOTNLM
OT  - BCR/ABL
OT  - CML
OT  - FISH
OT  - Philadelphia chromosome
EDAT- 2014/12/02 06:00
MHDA- 2014/12/02 06:01
PMCR- 2015/12/01
CRDT- 2014/12/02 06:00
PHST- 2012/02/01 00:00 [received]
PHST- 2013/12/17 00:00 [accepted]
PHST- 2014/12/02 06:00 [entrez]
PHST- 2014/12/02 06:00 [pubmed]
PHST- 2014/12/02 06:01 [medline]
PHST- 2015/12/01 00:00 [pmc-release]
AID - 316 [pii]
AID - 10.1007/s12288-013-0316-6 [doi]
PST - ppublish
SO  - Indian J Hematol Blood Transfus. 2014 Dec;30(4):241-6. doi: 
      10.1007/s12288-013-0316-6. Epub 2014 Jan 22.