PMID- 11564064 OWN - NLM STAT- MEDLINE DCOM- 20011204 LR - 20190705 IS - 0007-1048 (Print) IS - 0007-1048 (Linking) VI - 114 IP - 4 DP - 2001 Sep TI - Interphase fluorescence in situ hybridization and spectral karyotyping reveals hidden genetic aberrations in children with acute lymphoblastic leukaemia and a normal banded karyotype. PG - 786-93 AB - Twenty-two cases of childhood acute lymphoblastic leukaemia (ALL) with normal G- or Q-banded karyotypes were studied by interphase fluorescence in situ hybridization (FISH) and spectral karyotyping. Probes detecting MLL, BCR/ABL and TEL/AML1 rearrangements were used for the interphase studies, along with centromere-specific probes from chromosomes 17 and X. In 10 patients (45%), previously undetected aberrations were demonstrable. Specific gene rearrangements and structural changes were found in six cases and numerical changes in five. Five of these aberrations have previously been reported to have an impact on prognosis. Three cases were massively hyperdiploid and, in one, the prognostically important BCR/ABL fusion was detected. In addition, a near-haploid karyotype with 27 chromosomes was found in one patient and TEL/AML1 rearrangements were detected in two cases. This study indicates that about half of childhood ALL cases with apparently normal karyotypes harbour genetic aberrations that may be detected using interphase FISH and spectral karyotyping. FAU - Nordgren, A AU - Nordgren A AD - Department of Molecular Medicine, L8-02 Karolinska Hospital, SE-171 76 Stockholm, Sweden. ann.nordgren@cmm.ki.se FAU - Schoumans, J AU - Schoumans J FAU - Soderhall, S AU - Soderhall S FAU - Nordenskjold, M AU - Nordenskjold M FAU - Blennow, E AU - Blennow E LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - England TA - Br J Haematol JT - British journal of haematology JID - 0372544 RN - 0 (Core Binding Factor Alpha 2 Subunit) RN - 0 (Oncogene Proteins, Fusion) RN - 0 (TEL-AML1 fusion protein) RN - EC 2.7.10.2 (Fusion Proteins, bcr-abl) SB - IM MH - Adolescent MH - Child MH - Child, Preschool MH - *Chromosome Aberrations MH - *Chromosome Disorders MH - Chromosomes, Human, Pair 17 MH - Core Binding Factor Alpha 2 Subunit MH - Female MH - Fusion Proteins, bcr-abl/genetics MH - Humans MH - In Situ Hybridization, Fluorescence/methods MH - Interphase MH - Karyotyping/methods MH - Leukemia-Lymphoma, Adult T-Cell/genetics MH - Male MH - Oncogene Proteins, Fusion/genetics MH - Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/genetics MH - Precursor Cell Lymphoblastic Leukemia-Lymphoma/*genetics MH - X Chromosome EDAT- 2001/09/21 10:00 MHDA- 2002/01/05 10:01 CRDT- 2001/09/21 10:00 PHST- 2001/09/21 10:00 [pubmed] PHST- 2002/01/05 10:01 [medline] PHST- 2001/09/21 10:00 [entrez] AID - bjh3008 [pii] AID - 10.1046/j.1365-2141.2001.03008.x [doi] PST - ppublish SO - Br J Haematol. 2001 Sep;114(4):786-93. doi: 10.1046/j.1365-2141.2001.03008.x.