PMID- 23292868
OWN - NLM
STAT- MEDLINE
DCOM- 20130725
LR  - 20211021
IS  - 1559-131X (Electronic)
IS  - 1357-0560 (Linking)
VI  - 30
IP  - 1
DP  - 2013 Mar
TI  - A PML/RARA chimeric gene on chromosome 12 in a patient with acute promyelocytic 
      leukemia (M4) associated with a new variant translocation: 
      t(12;15;17)(q24;q24;q11).
PG  - 409
LID - 10.1007/s12032-012-0409-3 [doi]
AB  - Acute promyelocytic leukemia (APL) is genetically characterized by a reciprocal 
      translocation between chromosomes 15 and 17, t(15;17)(q22;q21), which results in 
      the fusion gene PML-RARA. A small proportion of patients with APL have complex or 
      simple variants of this translocation. With conventional cytogenetic methods, 
      these translocations are detected in about 70-90 % of patients, with most of the 
      negative results due to technical problems or cryptic variants. Those masked 
      PML/RARA fusions can be identified by molecular analyses such as reverse 
      transcriptase-polymerase chain reaction (RT-PCR) and fluorescence in situ 
      hybridization (FISH). We report the case of a 58-year-old man showing 
      morphological, cytochemical, and immunophenotypic features of hypergranular APL 
      (FAB-M4). PML-RARA transcripts were not evident on RT-PCR. Although cytogenetic 
      tests revealed the presence of an apparently balanced translocation 
      t(15;17)(q24;q11) with an abnormal chromosome 12 that characterized a M3 
      leukemia. This karyotypic interpretation was confirmed by FISH with the use of 
      painting probes of chromosomes 12, 15, and 17 and a PML-RARA dual-color DNA 
      probe. FISH showed a PML-RARA fusion gene on the der(12) instead of the der(15). 
      The patient was treated with an all-trans retinoic acid (ATRA) plus 
      anthracycline-based protocol and achieved complete remission, with no recurrence 
      to date. These results illustrate the usefulness of combining cytogenetics and 
      FISH methods to evidence the PML/RARA fusion gene in cases with morphologic 
      suspicion of APL with variant or cryptic t(15;17).
FAU - Bennour, Ayda
AU  - Bennour A
AD  - Department of Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat 
      Hached University Teaching Hospital, Sousse, Tunisia. aydabennour@yahoo.fr
FAU - Tabka, Ikram
AU  - Tabka I
FAU - Youssef, Yosra Ben
AU  - Youssef YB
FAU - Zaier, Monia
AU  - Zaier M
FAU - Hizem, Sondess
AU  - Hizem S
FAU - Khelif, Abderrahim
AU  - Khelif A
FAU - Saad, Ali
AU  - Saad A
FAU - Sennana, Halima
AU  - Sennana H
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20130106
PL  - United States
TA  - Med Oncol
JT  - Medical oncology (Northwood, London, England)
JID - 9435512
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (promyelocytic leukemia-retinoic acid receptor alpha fusion oncoprotein)
SB  - IM
MH  - Chromosomes, Human, Pair 12/*genetics
MH  - Chromosomes, Human, Pair 15/*genetics
MH  - Chromosomes, Human, Pair 17/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Leukemia, Promyelocytic, Acute/*genetics
MH  - Male
MH  - Middle Aged
MH  - Oncogene Proteins, Fusion/*genetics
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Translocation, Genetic/genetics
EDAT- 2013/01/08 06:00
MHDA- 2013/07/26 06:00
CRDT- 2013/01/08 06:00
PHST- 2012/11/01 00:00 [received]
PHST- 2012/12/08 00:00 [accepted]
PHST- 2013/01/08 06:00 [entrez]
PHST- 2013/01/08 06:00 [pubmed]
PHST- 2013/07/26 06:00 [medline]
AID - 10.1007/s12032-012-0409-3 [doi]
PST - ppublish
SO  - Med Oncol. 2013 Mar;30(1):409. doi: 10.1007/s12032-012-0409-3. Epub 2013 Jan 6.