PMID- 19224461
OWN - NLM
STAT- MEDLINE
DCOM- 20090605
LR  - 20191111
IS  - 1676-5680 (Electronic)
IS  - 1676-5680 (Linking)
VI  - 8
IP  - 1
DP  - 2009 Jan 6
TI  - Identification of PML/RARalpha fusion gene transcripts that showed no t(15;17) 
      with conventional karyotyping and fluorescent in situ hybridization.
PG  - 1-7
AB  - Acute promyelocytic leukemia (APL) is characterized by a reciprocal 
      translocation, t(15;17)(q22;q11-21), resulting in the fusion of the promyelocytic 
      leukemia (PML) and retinoic acid receptor alpha (RARalpha) genes. Using 
      conventional cytogenetic methods, these translocations are normally detected in 
      about 70-90% of patients; most negative results are due to technical problems or 
      cryptic variants. These masked PML/RARalpha fusions can be identified by 
      molecular analyses, such as reverse transcriptase-polymerase chain reaction 
      (RT-PCR) or fluorescence in situ hybridization (FISH). Approximately 5 to 10% of 
      all APL cases reported do not show PML/RARalpha fusion transcripts, even with 
      dual-colored FISH. We report three of 40 diagnosed APL cases that showed 
      morphological, cytochemical, and immunophenotypic features of hypergranular APL, 
      but did not show a PML/RARalpha fusion signal or any of its variants, on FISH. 
      All cases were identified by RT-PCR, which was further confirmed by cDNA 
      sequencing. Conventional karyotyping showed other clonal aberrations in these 
      cases, but failed to show t(15;17) or any other variants or complex 
      translocations.
FAU - Choughule, A
AU  - Choughule A
AD  - Molecular Biology Laboratory, Department of Medical Oncology, Tata Memorial 
      Hospital, Mumbai, Maharashtra, India. anu.c1112@gmail.com
FAU - Polampalli, S
AU  - Polampalli S
FAU - Amre, P
AU  - Amre P
FAU - Shinde, S
AU  - Shinde S
FAU - Banavali, S
AU  - Banavali S
FAU - Prabhash, K
AU  - Prabhash K
FAU - Nair, R
AU  - Nair R
FAU - Subramanian, P G
AU  - Subramanian PG
FAU - Gujral, S
AU  - Gujral S
FAU - Parikh, P M
AU  - Parikh PM
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20090106
PL  - Brazil
TA  - Genet Mol Res
JT  - Genetics and molecular research : GMR
JID - 101169387
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (RNA, Messenger)
RN  - 0 (promyelocytic leukemia-retinoic acid receptor alpha fusion oncoprotein)
SB  - IM
MH  - Adult
MH  - Chromosomes, Human, Pair 15/*genetics
MH  - Chromosomes, Human, Pair 17/*genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Middle Aged
MH  - Oncogene Proteins, Fusion/*genetics
MH  - RNA, Messenger/analysis
MH  - Translocation, Genetic/*genetics
EDAT- 2009/02/19 09:00
MHDA- 2009/06/06 09:00
CRDT- 2009/02/19 09:00
PHST- 2009/02/19 09:00 [entrez]
PHST- 2009/02/19 09:00 [pubmed]
PHST- 2009/06/06 09:00 [medline]
AID - gmr488 [pii]
AID - 10.4238/vol8-1gmr488 [doi]
PST - epublish
SO  - Genet Mol Res. 2009 Jan 6;8(1):1-7. doi: 10.4238/vol8-1gmr488.