PMID- 17074587 OWN - NLM STAT- MEDLINE DCOM- 20061215 LR - 20190816 IS - 0165-4608 (Print) IS - 0165-4608 (Linking) VI - 171 IP - 1 DP - 2006 Nov TI - A case of acute myelogenous leukemia with MLL-AF10 fusion caused by insertion of 5' MLL into 10p12, with concurrent 3' MLL deletion. PG - 24-30 AB - Structural abnormalities involving the mixed-lineage leukemia (MLL) gene on 11q23 have been associated with hematological malignancies. The rearrangement of MLL occurs during translocations and insertions involving a variety of genes on the partner chromosome. We report a rare case of acute myelogenous leukemia (AML-M2) with 11q23 abnormalities. Fluorescence in situ hybridization (FISH) using a commercial dual-color MLL probe detected an atypical signal pattern: one fusion signal, two green signals smaller than those usually detected, and no orange signals. Spectral karyotyping (SKY) analysis indicated that one green signal was detected on the short arm of derivative chromosome 10, and the other green signal on the long arm of a derivative chromosome 11, on which no orange signal was detected. A long-distance inverse polymerase chain reaction (LDI-PCR) identified the fusion partner gene, in which intron 6 of MLL was fused with intron 8 of AF10 on 10p12 in the 5' to 3' direction. Our observations indicated that the MLL-AF10 fusion gene resulted from the insertion of part of the region that included the 5' MLL insertion into 10p12; this was concurrent with the deletion of 3' MLL. FAU - Matsuda, Kazuyuki AU - Matsuda K AD - Department of Laboratory Medicine, Shinshu University Hospital, 3-1-1 Asashi, Matsumoto, Japan. FAU - Hidaka, Eiko AU - Hidaka E FAU - Ishida, Fumihiro AU - Ishida F FAU - Yamauchi, Kazuyoshi AU - Yamauchi K FAU - Makishima, Hideki AU - Makishima H FAU - Ito, Toshiro AU - Ito T FAU - Suzuki, Takefumi AU - Suzuki T FAU - Imagawa, Eri AU - Imagawa E FAU - Sano, Kenji AU - Sano K FAU - Katsuyama, Tsutomu AU - Katsuyama T FAU - Ota, Hiroyoshi AU - Ota H LA - eng PT - Case Reports PT - Journal Article PL - United States TA - Cancer Genet Cytogenet JT - Cancer genetics and cytogenetics JID - 7909240 RN - 0 (KMT2A protein, human) RN - 0 (MLL-AF10 fusion protein, human) RN - 0 (MLLT10 protein, human) RN - 0 (Oncogene Proteins, Fusion) RN - 0 (Transcription Factors) RN - 149025-06-9 (Myeloid-Lymphoid Leukemia Protein) RN - EC 2.1.1.43 (Histone-Lysine N-Methyltransferase) SB - IM MH - Acute Disease MH - Adult MH - Amino Acid Sequence MH - Base Sequence MH - Chromosome Aberrations MH - Chromosome Banding MH - Chromosome Breakage MH - Chromosome Deletion MH - Chromosomes, Human, Pair 10/*genetics MH - Chromosomes, Human, Pair 11/genetics MH - *Gene Deletion MH - Histone-Lysine N-Methyltransferase MH - Humans MH - In Situ Hybridization, Fluorescence/methods MH - Karyotyping MH - Leukemia, Myeloid/genetics/*pathology MH - Male MH - Mutagenesis, Insertional/genetics MH - Myeloid-Lymphoid Leukemia Protein/chemistry/*genetics MH - Oncogene Proteins, Fusion/*genetics MH - Sequence Analysis, DNA MH - Spectral Karyotyping/methods MH - Transcription Factors/genetics EDAT- 2006/11/01 09:00 MHDA- 2006/12/16 09:00 CRDT- 2006/11/01 09:00 PHST- 2006/03/21 00:00 [received] PHST- 2006/06/01 00:00 [revised] PHST- 2006/06/06 00:00 [accepted] PHST- 2006/11/01 09:00 [pubmed] PHST- 2006/12/16 09:00 [medline] PHST- 2006/11/01 09:00 [entrez] AID - S0165-4608(06)00410-9 [pii] AID - 10.1016/j.cancergencyto.2006.06.013 [doi] PST - ppublish SO - Cancer Genet Cytogenet. 2006 Nov;171(1):24-30. doi: 10.1016/j.cancergencyto.2006.06.013.