PMID- 11960348 OWN - NLM STAT- MEDLINE DCOM- 20020507 LR - 20130304 IS - 0887-6924 (Print) IS - 0887-6924 (Linking) VI - 16 IP - 4 DP - 2002 Apr TI - ETV6/AML1 fusion by FISH in adult acute lymphoblastic leukemia. PG - 669-74 AB - Dual-color interphase fluorescence in situ hybridization (FISH) with ETV6 and AML1 probes was used for the first time on a series of 159 adult patients with acute lymphoblastic leukemia (ALL), for detection of the t(12;21)(p13;q22) translocation. Seven patients (4.4%) were found, with 50-100% of positive cells, of whom one of two tested, proved negative for the fusion product by RT-PCR. Two of them, aged 43 and 50 years, are the oldest patients so far confirmed to have the translocation. Three who relapsed at 10, 11 and 24 months, suggest that adults may not enjoy the good short-term prognosis reported for t(12;21)-positive children. Thirty-one-negative cases had signal numbers differing from the two expected for each gene. In 15 cases these results were consistent with the karyotype. In nine cases with uninformative cytogenetics, the numbers were consistent with those for centromeres and indicated a hidden aneuploidy. Loss of ETV6 genes in two cases and AML1 amplification in three others were not suspected from the cytogenetics. In conclusion, FISH proved to be reliable in defining ETV6/AML1 positivity in this group of patients as well as providing valuable insights into negative cases. FAU - Jabber Al-Obaidi, M S AU - Jabber Al-Obaidi MS AD - LRF/UKCCG Karyotype Database in ALL, Department of Haematology, The Royal Free and University College Medical School, London, UK. FAU - Martineau, M AU - Martineau M FAU - Bennett, C F AU - Bennett CF FAU - Franklin, I M AU - Franklin IM FAU - Goldstone, A H AU - Goldstone AH FAU - Harewood, L AU - Harewood L FAU - Jalali, G R AU - Jalali GR FAU - Prentice, H G AU - Prentice HG FAU - Richards, S M AU - Richards SM FAU - Roberts, K AU - Roberts K FAU - Harrison, C J AU - Harrison CJ CN - Medical Research Council Adult Leukaemia Working Party LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PT - Research Support, U.S. Gov't, P.H.S. PL - England TA - Leukemia JT - Leukemia JID - 8704895 RN - 0 (Core Binding Factor Alpha 2 Subunit) RN - 0 (DNA Primers) RN - 0 (Oncogene Proteins, Fusion) RN - 0 (TEL-AML1 fusion protein) SB - IM CIN - Leukemia. 2003 Feb;17(2):476-7; author reply 477. PMID: 12592356 MH - Adolescent MH - Adult MH - Bone Marrow/pathology MH - Chromosomes, Human, Pair 12/*genetics MH - Chromosomes, Human, Pair 21/*genetics MH - Core Binding Factor Alpha 2 Subunit MH - DNA Primers/chemistry MH - Female MH - Gene Amplification MH - Gene Deletion MH - Humans MH - Immunophenotyping MH - In Situ Hybridization, Fluorescence MH - Karyotyping MH - Male MH - Middle Aged MH - Oncogene Proteins, Fusion/*genetics/metabolism MH - Precursor Cell Lymphoblastic Leukemia-Lymphoma/*genetics MH - Reverse Transcriptase Polymerase Chain Reaction MH - Translocation, Genetic/*genetics EDAT- 2002/04/18 10:00 MHDA- 2002/05/08 10:01 CRDT- 2002/04/18 10:00 PHST- 2001/07/27 00:00 [received] PHST- 2001/12/05 00:00 [accepted] PHST- 2002/04/18 10:00 [pubmed] PHST- 2002/05/08 10:01 [medline] PHST- 2002/04/18 10:00 [entrez] AID - 10.1038/sj.leu.2402435 [doi] PST - ppublish SO - Leukemia. 2002 Apr;16(4):669-74. doi: 10.1038/sj.leu.2402435.