PMID- 12691149
OWN - NLM
STAT- MEDLINE
DCOM- 20031002
LR  - 20190116
IS  - 1042-8194 (Print)
IS  - 1026-8022 (Linking)
VI  - 44
IP  - 1
DP  - 2003 Jan
TI  - Cytogenetics, FISH and RT-PCR analysis of acute promyelocytic leukemia: structure 
      of the fusion point in a case lacking classic t(15;17) translocation.
PG  - 111-5
AB  - The chimeric gene product PML-RAR alpha, the result of a reciprocal t(15;17) 
      translocation, plays an important role in the pathogenesis of acute promyelocytic 
      leukemia (APL). In the present study on clinical effects of cytogenetics and 
      molecular events in APL, we performed chromosome analysis, fluorescence in situ 
      hybridization (FISH) using gene-specific probe, and reverse 
      transcription-polymerase chain reaction (RT-PCR) analysis in 10 patients with 
      APL. Patients were treated with all-trans retinoic acid (ATRA) and/or 
      chemotherapy, and all achieved complete remission. Cytogenetic analysis revealed 
      the classic translocation t(15;17) in nine of 10 patients, and a remaining 
      patient had an apparently normal karyotype. Interphase FISH was performed in nine 
      patients, and revealed the presence of PML-RAR alpha fusion gene in all patients. 
      RT-PCR analysis in 10 patients showed that eight expressed long (L)-form type, 
      one expressed a short (S)-form type, and the other expressed a variable (V)-form 
      type. Metaphase FISH of the patient with normal karyotype revealed a juxtaposed 
      PML-RAR alpha fusion signal on one chromosome 17 homologue, an RAR alpha signal 
      on the other chromosome 17 homologue, and one PML signal on each chromosome 15 
      homologue. Moreover, V-form of the PML-RAR alpha transcript was detected, and a 
      portion of RAR alpha intron 2 was found inserted in the breakpoint region. ATRA 
      differentiation induction therapy was effective in treating this patient, a 
      result infrequently reported in cytogenetic and molecular investigations of APL.
FAU - Fujita, Kazuhiro
AU  - Fujita K
AD  - Blood Center, Showa University, Fujigaoka Hospital, 1-30 Fujigaoka, Aoba-ku, 
      Yokohama 227-8501, Japan. fujitak@cmed.showa-u.ac.jp
FAU - Oba, Remi
AU  - Oba R
FAU - Harada, Hiroshi
AU  - Harada H
FAU - Mori, Hiraku
AU  - Mori H
FAU - Niikura, Haruo
AU  - Niikura H
FAU - Isoyama, Keiichi
AU  - Isoyama K
FAU - Omine, Mitsuhiro
AU  - Omine M
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Leuk Lymphoma
JT  - Leukemia & lymphoma
JID - 9007422
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (RNA, Messenger)
RN  - 0 (promyelocytic leukemia-retinoic acid receptor alpha fusion oncoprotein)
RN  - 5688UTC01R (Tretinoin)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - *Chromosomes, Human, Pair 15
MH  - *Chromosomes, Human, Pair 17
MH  - *Cytogenetic Analysis
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Introns
MH  - Leukemia, Promyelocytic, Acute/drug therapy/*genetics
MH  - Male
MH  - Middle Aged
MH  - Neoplasm Proteins/genetics
MH  - Oncogene Proteins, Fusion/genetics
MH  - RNA, Messenger
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Sequence Analysis, DNA
MH  - Translocation, Genetic
MH  - Tretinoin/therapeutic use
EDAT- 2003/04/15 05:00
MHDA- 2003/10/03 05:00
CRDT- 2003/04/15 05:00
PHST- 2003/04/15 05:00 [pubmed]
PHST- 2003/10/03 05:00 [medline]
PHST- 2003/04/15 05:00 [entrez]
AID - 10.1080/1042819021000040305 [doi]
PST - ppublish
SO  - Leuk Lymphoma. 2003 Jan;44(1):111-5. doi: 10.1080/1042819021000040305.