PMID- 18328952
OWN - NLM
STAT- MEDLINE
DCOM- 20080422
LR  - 20161124
IS  - 0165-4608 (Print)
IS  - 0165-4608 (Linking)
VI  - 182
IP  - 1
DP  - 2008 Apr 1
TI  - 5'RARA submicroscopic deletion from new variant translocation involving 
      chromosomes 15, 17, and 18, in a case of acute promyelocytic leukemia.
PG  - 50-5
LID - 10.1016/j.cancergencyto.2007.12.011 [doi]
AB  - Submicroscopic deletions of the PML-RARA fusion genes constitute rare 
      rearrangements in acute promyelocytic leukemia (APL). We describe a rare case of 
      APL carrying a novel complex translocation involving chromosomes 15, 17, and 18 
      associated with a submicroscopic deletion of the 5' part of the RARA gene, as 
      evidenced by fluorescence in situ hybridization (FISH). A PML/RARA dual-fusion 
      probe did not reveal the RARA-PML fusion signal on the der(17q), usually detected 
      in the typical t(15;17). The RARA break-apart probe showed a deletion 
      hybridization pattern with loss of the signal corresponding to the 5' portion of 
      the RARA gene. Reverse transcriptase-polymerase chain reaction confirmed the 
      absence of the fusion RARA-PML transcript. The patient achieved complete 
      remission, but died during consolidation therapy, 2 months after diagnosis. To 
      our knowledge, this is the first reported case of APL with a complex variant 
      t(15;17) involving chromosome 18 at band q12 and one of the very rare described 
      cases displaying a submicroscopic deletion of the RARA 5' region. Further cases 
      are needed to delineate the incidence of submicroscopic deletions in APL and 
      elucidate their prognostic impact.
FAU - Stavropoulou, Chryssa
AU  - Stavropoulou C
AD  - National Center for Scientific Research Demokritos, Athens, Greece.
FAU - Georgakakos, Vasileios N
AU  - Georgakakos VN
FAU - Manola, Kalliopi N
AU  - Manola KN
FAU - Pagoni, Maria
AU  - Pagoni M
FAU - Garofalaki, Maria
AU  - Garofalaki M
FAU - Pantelias, Gabriel E
AU  - Pantelias GE
FAU - Sambani, Constantina
AU  - Sambani C
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Cancer Genet Cytogenet
JT  - Cancer genetics and cytogenetics
JID - 7909240
RN  - 0 (RARA protein, human)
RN  - 0 (Receptors, Retinoic Acid)
RN  - 0 (Retinoic Acid Receptor alpha)
SB  - IM
MH  - *Chromosomes, Human, Pair 15
MH  - *Chromosomes, Human, Pair 17
MH  - *Chromosomes, Human, Pair 18
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Leukemia, Promyelocytic, Acute/*genetics
MH  - Middle Aged
MH  - Receptors, Retinoic Acid/*genetics
MH  - Retinoic Acid Receptor alpha
MH  - *Sequence Deletion
MH  - *Translocation, Genetic
EDAT- 2008/03/11 09:00
MHDA- 2008/04/23 09:00
CRDT- 2008/03/11 09:00
PHST- 2007/10/01 00:00 [received]
PHST- 2007/12/11 00:00 [revised]
PHST- 2007/12/17 00:00 [accepted]
PHST- 2008/03/11 09:00 [pubmed]
PHST- 2008/04/23 09:00 [medline]
PHST- 2008/03/11 09:00 [entrez]
AID - S0165-4608(08)00003-4 [pii]
AID - 10.1016/j.cancergencyto.2007.12.011 [doi]
PST - ppublish
SO  - Cancer Genet Cytogenet. 2008 Apr 1;182(1):50-5. doi: 
      10.1016/j.cancergencyto.2007.12.011.