PMID- 18633615
OWN - NLM
STAT- MEDLINE
DCOM- 20081113
LR  - 20101118
IS  - 1432-0584 (Electronic)
IS  - 0939-5555 (Linking)
VI  - 87
IP  - 12
DP  - 2008 Dec
TI  - The application of conventional cytogenetics, FISH, and RT-PCR to detect genetic 
      changes in 70 children with ALL.
PG  - 991-1002
LID - 10.1007/s00277-008-0540-6 [doi]
AB  - We investigated bone marrow cells of 70 acute lymphoblastic leukemia children by 
      conventional cytogenetics (CC), fluorescence in situ hybridization (FISH), and 
      reverse transcription polymerase chain reaction (RT-PCR) methods. CC and RT-PCR 
      for fusion genes BCR/ABL, MLL/AF4, E2A/PBX1, TEL/AML1 were performed at diagnosis 
      in each patient. FISH was performed to verify the presence of fusion genes and 
      MLL rearrangements and to estimate the percentage of abnormal cells. Karyotypes 
      were obtained in 59 (84%) of 70 cases. Thirty-five (59%) of 59 cases revealed 
      chromosome aberrations. Hyperdiploidy>50 chromosomes was present in nine cases, 
      hyperdiploidy 47-50 chromosomes in six, pseudodiploidy in 15, and hypodiploidy in 
      five. BCR/ABL was present in two cases, PBX1/E2A in two, and TEL/AML1 in 14. 
      MLL/AF4 was not found, but the rearrangements of MLL gene were present in five 
      children. The addition of RT-PCR and FISH to CC was of the utmost importance. One 
      of two Ph translocations and one of two t(1;19) were first revealed by RT-PCR. 
      Moreover, FISH showed the percentage of TEL/AML1(+) cells that turned to be an 
      important prognostic factor. The outcome was the best for the children with 
      hyperdiploidy>50 chromosomes without structural changes. It was also good for 
      those with TEL/AML1 present in >or=80% of cells without chromosome aberrations. 
      The presence of pseudodiploidy correlated with poor outcome. The outcome for 
      patients with t(9;22)-BCR/ABL or 11q23-MLL rearrangement was the worst in study 
      group. The presence of BCR/ABL caused eight times increase of risk of death; MLL 
      rearrangements caused 12 times increase.
FAU - Soszynska, Krystyna
AU  - Soszynska K
AD  - Department of Clinical Genetics, Ludwik Rydygier Collegium Medicum, Nicolaus 
      Copernicus University, 9 Sklodowska-Curie Str., 85-094, Bydgoszcz, Poland.
FAU - Mucha, Barbara
AU  - Mucha B
FAU - Debski, Robert
AU  - Debski R
FAU - Skonieczka, Katarzyna
AU  - Skonieczka K
FAU - Duszenko, Ewa
AU  - Duszenko E
FAU - Koltan, Andrzej
AU  - Koltan A
FAU - Wysocki, Mariusz
AU  - Wysocki M
FAU - Haus, Olga
AU  - Haus O
LA  - eng
PT  - Journal Article
DEP - 20080717
PL  - Germany
TA  - Ann Hematol
JT  - Annals of hematology
JID - 9107334
RN  - 0 (Core Binding Factor Alpha 2 Subunit)
RN  - 0 (Homeodomain Proteins)
RN  - 0 (MLL-AF4 fusion protein, human)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (TEL-AML1 fusion protein)
RN  - 146150-85-8 (E2A-Pbx1 fusion protein)
RN  - 149025-06-9 (Myeloid-Lymphoid Leukemia Protein)
SB  - IM
MH  - Adolescent
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Aberrations
MH  - Cohort Studies
MH  - Core Binding Factor Alpha 2 Subunit/*genetics
MH  - Female
MH  - Genes, abl/*genetics
MH  - Homeodomain Proteins/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Kaplan-Meier Estimate
MH  - Male
MH  - Myeloid-Lymphoid Leukemia Protein/*genetics
MH  - Oncogene Proteins, Fusion/*genetics
MH  - Precursor Cell Lymphoblastic Leukemia-Lymphoma/*genetics
MH  - Reverse Transcriptase Polymerase Chain Reaction
EDAT- 2008/07/18 09:00
MHDA- 2008/11/14 09:00
CRDT- 2008/07/18 09:00
PHST- 2007/09/09 00:00 [received]
PHST- 2008/06/11 00:00 [accepted]
PHST- 2008/07/18 09:00 [pubmed]
PHST- 2008/11/14 09:00 [medline]
PHST- 2008/07/18 09:00 [entrez]
AID - 10.1007/s00277-008-0540-6 [doi]
PST - ppublish
SO  - Ann Hematol. 2008 Dec;87(12):991-1002. doi: 10.1007/s00277-008-0540-6. Epub 2008 
      Jul 17.