TY - JOUR
T1 - BCR/ABL-negative chronic myeloid leukemia with ETV6/ABL fusion
AU - Andreasson, Patrik
AU - Johansson, Bertil
AU - Carlsson, Magnus
AU - Jarlsfelt, Ingvar
AU - Fioretos, Thoas
AU - Mitelman, Felix
AU - Höglund, Mattias
PY - 1997
Y1 - 1997
N2 - A BCR/ABL-negative chronic myeloid leukemia (CML) with t(12;14) (p12;q11-13) as the sole chromosomal abnormality was investigated by fluorescence in situ hybridization (FISH), which disclosed a cryptic insertion of ETV6 (previously called TEL), located at 12p12, into ABL at chromosome band 9q34. ETV6/ABL fusion was confirmed by RT-PCR, revealing that the first five exons of ETV6 were fused in frame with ABL at exon 2. Wild-type ETV6 was expressed, in accordance with the FISH results showing no deletion of the second ETV6 allele. ETV6/ABL chimeric transcripts have previously been reported in acute leukemias, but never before in CML. The present case suggests that ETV6/ABL positivity may constitute a new genetic subgroup of BCR-negative CML.
AB - A BCR/ABL-negative chronic myeloid leukemia (CML) with t(12;14) (p12;q11-13) as the sole chromosomal abnormality was investigated by fluorescence in situ hybridization (FISH), which disclosed a cryptic insertion of ETV6 (previously called TEL), located at 12p12, into ABL at chromosome band 9q34. ETV6/ABL fusion was confirmed by RT-PCR, revealing that the first five exons of ETV6 were fused in frame with ABL at exon 2. Wild-type ETV6 was expressed, in accordance with the FISH results showing no deletion of the second ETV6 allele. ETV6/ABL chimeric transcripts have previously been reported in acute leukemias, but never before in CML. The present case suggests that ETV6/ABL positivity may constitute a new genetic subgroup of BCR-negative CML.
U2 - 10.1002/(SICI)1098-2264(199711)20:3<299::AID-GCC11>3.0.CO;2-K
DO - 10.1002/(SICI)1098-2264(199711)20:3<299::AID-GCC11>3.0.CO;2-K
M3 - Article
SN - 1045-2257
VL - 20
SP - 299
EP - 304
JO - Genes, Chromosomes and Cancer
JF - Genes, Chromosomes and Cancer
IS - 3
ER -