PMID- 9713991 OWN - NLM STAT- MEDLINE DCOM- 19980930 LR - 20191024 IS - 1045-2257 (Print) IS - 1045-2257 (Linking) VI - 23 IP - 1 DP - 1998 Sep TI - Rearrangement between the MYH11 gene at 16p13 and D12S158 at 12p13 in a case of acute myeloid leukemia M1 (AML-M1). PG - 10-5 AB - A case of acute myeloid leukemia (AML) M1 with bone marrow eosinophilia was characterized by cytogenetics and fluorescence in situ hybridization (FISH). A complex karyotype including a der(12)t(12;17)(p12-13;q11) and a der(16)t(16;20)(p13;p11) was found at diagnosis. FISH studies with probes for chromosome 16 and for the short arm of chromosome 12 showed even more complex rearrangements. Analysis with a panel of probes for 12p showed that D12S158 spanned the breakpoint on the der(12). Unexpectedly, FISH signals were found on the der(12) and on the der(6) at band p13, the site of juxtaposition between the short arm of chromosome 16 and chromosome 20. Moreover, both YAC 854E2, containing the MYH11 gene, and cosmid ZIT133, encompassing the MYH11 breakpoint in inv(16) and t(16;16) of AML-M4 with eosinophilia, demonstrated fluorescent signals on the normal 16, on the der(16), and on the der(12). These data clearly support a reciprocal exchange between D12S158 at 12p13.3 and the MYH11 gene at 16p13. In addition, experiments with two PAC clones for the CBFB gene at 16q22 excluded the presence of a masked inv(16). An interstitial deletion, independent from the translocation and flanked by VWF and KRAS2, was also detected on the der(12). FAU - La Starza, R AU - La Starza R AD - Hematology and Bone Marrow Transplantation Unit, University of Perugia, Italy. FAU - Wlodarska, I AU - Wlodarska I FAU - Matteucci, C AU - Matteucci C FAU - Falzetti, D AU - Falzetti D FAU - Baens, M AU - Baens M FAU - Martelli, M F AU - Martelli MF FAU - Van den Berghe, H AU - Van den Berghe H FAU - Marynen, P AU - Marynen P FAU - Mecucci, C AU - Mecucci C LA - eng PT - Case Reports PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Genes Chromosomes Cancer JT - Genes, chromosomes & cancer JID - 9007329 RN - 0 (Transcription Factors) RN - EC 3.6.4.1 (Myosin Heavy Chains) SB - IM MH - Aged MH - Chromosome Inversion MH - Chromosomes, Human, Pair 12/*genetics MH - Chromosomes, Human, Pair 16/*genetics MH - Genes/*genetics MH - Humans MH - In Situ Hybridization, Fluorescence MH - Karyotyping MH - Leukemia, Myeloid, Acute/*genetics MH - Male MH - Microsatellite Repeats/genetics MH - Myosin Heavy Chains/*genetics MH - Transcription Factors/genetics MH - Translocation, Genetic EDAT- 1998/08/26 02:24 MHDA- 2000/06/20 09:00 CRDT- 1998/08/26 02:24 PHST- 1998/08/26 02:24 [pubmed] PHST- 2000/06/20 09:00 [medline] PHST- 1998/08/26 02:24 [entrez] AID - 10.1002/(SICI)1098-2264(199809)23:1<10::AID-GCC2>3.0.CO;2-9 [pii] AID - 10.1002/(sici)1098-2264(199809)23:1<10::aid-gcc2>3.3.co;2-7 [doi] PST - ppublish SO - Genes Chromosomes Cancer. 1998 Sep;23(1):10-5. doi: 10.1002/(sici)1098-2264(199809)23:1<10::aid-gcc2>3.3.co;2-7.