PMID- 20863428
OWN - NLM
STAT- MEDLINE
DCOM- 20110228
LR  - 20161125
IS  - 1607-8454 (Electronic)
IS  - 1024-5332 (Linking)
VI  - 15
IP  - 5
DP  - 2010 Oct
TI  - Interstitial insertion of RARalpha gene into PML gene in a patient with acute 
      promyelocytic leukemia (APL) lacking the classic t(15;17).
PG  - 332-7
LID - 10.1179/102453310X12647083621083 [doi]
AB  - The diagnosis of APL is based on clinical and morphological tests though the 
      final diagnosis is at the molecular level. An accurate diagnosis is important as 
      it mandates targeted therapy to improve survival. We report a case of APL without 
      t(15;17) in conventional cytogenetic study and with initially negative 
      fluorescence in situ hybridization (FISH) study on cells in interphase. Reverse 
      transcription polymerase chain reaction (RT-PCR) for the promyelocytic/retinoic 
      acid receptor alpha gene (PML/RARalpha) fusion oncogene proved the clinical diagnosis 
      as well as FISH study on cells in metaphase. The cause was a cryptic 
      translocation of the RARalpha gene into PML. We reviewed 36 additional cases of APL 
      diagnosed in our hospital since 1992. This was the only case that failed to show 
      t(15;17) in cytogenetics. However, three cases with t(15;17) in cytogenetics had 
      negative RT-PCR for PML/RARalpha. Our case emphasizes that cytogenetics, FISH and 
      RT-PCR studies are complementary studies for the molecular diagnosis of APL.
FAU - Goldschmidt, Neta
AU  - Goldschmidt N
AD  - Department of Hematology, Hadassah-Hebrew University Medical Center, Jerusalem, 
      Israel. neta@hadassah.org.il
FAU - Yehuda-Gafni, Orly
AU  - Yehuda-Gafni O
FAU - Abeliovich, Deborah
AU  - Abeliovich D
FAU - Slyusarevsky, Elena
AU  - Slyusarevsky E
FAU - Rund, Deborah
AU  - Rund D
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Hematology
JT  - Hematology (Amsterdam, Netherlands)
JID - 9708388
RN  - 0 (Nuclear Proteins)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (Promyelocytic Leukemia Protein)
RN  - 0 (RARA protein, human)
RN  - 0 (Receptors, Retinoic Acid)
RN  - 0 (Retinoic Acid Receptor alpha)
RN  - 0 (Transcription Factors)
RN  - 0 (Tumor Suppressor Proteins)
RN  - 0 (promyelocytic leukemia-retinoic acid receptor alpha fusion oncoprotein)
RN  - 143220-95-5 (PML protein, human)
SB  - IM
MH  - Chromosomes, Human, Pair 15
MH  - Chromosomes, Human, Pair 17
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Leukemia, Promyelocytic, Acute/diagnosis/*genetics
MH  - Middle Aged
MH  - Mutagenesis, Insertional
MH  - Nuclear Proteins/*genetics
MH  - Oncogene Proteins, Fusion/*genetics
MH  - Promyelocytic Leukemia Protein
MH  - Receptors, Retinoic Acid/*genetics
MH  - Retinoic Acid Receptor alpha
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Transcription Factors/*genetics
MH  - Translocation, Genetic/genetics
MH  - Tumor Suppressor Proteins/*genetics
EDAT- 2010/09/25 06:00
MHDA- 2011/03/01 06:00
CRDT- 2010/09/25 06:00
PHST- 2010/09/25 06:00 [entrez]
PHST- 2010/09/25 06:00 [pubmed]
PHST- 2011/03/01 06:00 [medline]
AID - 10.1179/102453310X12647083621083 [doi]
PST - ppublish
SO  - Hematology. 2010 Oct;15(5):332-7. doi: 10.1179/102453310X12647083621083.