PMID- 11129441
OWN - NLM
STAT- MEDLINE
DCOM- 20010222
LR  - 20191104
IS  - 1052-9551 (Print)
IS  - 1052-9551 (Linking)
VI  - 9
IP  - 4
DP  - 2000 Dec
TI  - ETV6/CBFA2 fusions in childhood B-cell precursor acute lymphoblastic leukemia 
      with myeloid markers.
PG  - 184-9
AB  - A translocation resulting in a fusion of ETV6 (TEL) gene at 12p13 and CBFA2 
      (AML1) gene at 21q22 is variably reported in 16-36% of cases of childhood acute 
      lymphoblastic leukemia (ALL). This t(12;21)(p13;q22) is not detectable by 
      conventional cytogenetic methods and was reported to be associated with B-cell 
      precursor ALL with presumed favorable prognosis. We have examined 18 cases of 
      well characterized childhood B-cell precursor ALL with cytogenetic, 
      immunophenotypic, and clinical data for the presence of the t(12;21) using 
      fluorescence in situ hybridization (FISH). Fourteen of the 18 cases (78%) were 
      positive for fusion ETV6/CBFA2. One of seven adult ALL patients was positive (12% 
      of cells positive in this 21 year old patient). By contrast, no evidence of 
      t(12;21) by FISH was noted in two childhood T-ALL cases and 10 normal bone marrow 
      samples. Twelve of the 14 positive childhood cases had CD13 and/or CD33 
      expression (myeloid markers) while only one of the four negative cases was CD13 
      and CD33 positive. Eight of 12 cases positive for t(12;21), and with conventional 
      cytogenetic data, had structural and/or numerical chromosome abnormalities other 
      than the detected t(12;21). One case had relapse with gradual increase in 
      percentage of cells positive for t(12;21) and development of an isochromosome 21 
      carrying the fusion signals. The data reveal a strong association of t(12;21) 
      with B-cell precursor ALL, especially with myeloid marker expression.
FAU - Rafi, S K
AU  - Rafi SK
AD  - Genetics Department, Yale University School of Medicine, New Haven, Connecticut 
      06520-8005, USA.
FAU - El Gebaly, H
AU  - El Gebaly H
FAU - Qumsiyeh, M B
AU  - Qumsiyeh MB
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Diagn Mol Pathol
JT  - Diagnostic molecular pathology : the American journal of surgical pathology, part 
      B
JID - 9204924
RN  - 0 (Biomarkers, Tumor)
RN  - 0 (Core Binding Factor Alpha 2 Subunit)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (TEL-AML1 fusion protein)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Biomarkers, Tumor/*genetics
MH  - Burkitt Lymphoma/diagnosis/*genetics/pathology
MH  - Child
MH  - Child, Preschool
MH  - Core Binding Factor Alpha 2 Subunit
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Male
MH  - Myeloid Progenitor Cells/chemistry/*pathology
MH  - Oncogene Proteins, Fusion/*genetics
MH  - Precursor Cell Lymphoblastic Leukemia-Lymphoma/diagnosis/*genetics/pathology
MH  - *Translocation, Genetic
EDAT- 2000/12/29 11:00
MHDA- 2001/03/03 10:01
CRDT- 2000/12/29 11:00
PHST- 2000/12/29 11:00 [pubmed]
PHST- 2001/03/03 10:01 [medline]
PHST- 2000/12/29 11:00 [entrez]
AID - 10.1097/00019606-200012000-00002 [doi]
PST - ppublish
SO  - Diagn Mol Pathol. 2000 Dec;9(4):184-9. doi: 10.1097/00019606-200012000-00002.