PMID- 23236551 OWN - NLM STAT- MEDLINE DCOM- 20130722 LR - 20211021 IS - 1936-2625 (Electronic) IS - 1936-2625 (Linking) VI - 6 IP - 1 DP - 2013 TI - Acute myeloid leukemia with cryptic CBFB-MYH11 type D. PG - 110-2 AB - A 77 year-old female was found with FAB M4Eo acute myeloid leukemia. Although CBFB-MYH11 mRNA was detected in RT-PCR, the conventional cytogenetic analysis failed to reveal inv(16). Fluorescence in situ hybridization (FISH) and the sequence analysis revealed a fusion between the exon 5 of CBFB and the exon 8 of MYH11, resulting in a minor variant fusion product previously reported as type D. In order to detect the cryptic inv(16) type D, both FISH and RT-PCR are required, and furthermore, the primers for the sequence analysis needs to be selected for the proper diagnosis. FAU - Kobayashi, Takashi AU - Kobayashi T AD - Department of Hematology and Oncology, Graduate School of Medicine, University of Tokyo Tokyo, Japan. FAU - Ichikawa, Motoshi AU - Ichikawa M FAU - Kamikubo, Yasuhiko AU - Kamikubo Y FAU - Kurokawa, Mineo AU - Kurokawa M LA - eng PT - Case Reports PT - Journal Article DEP - 20121120 PL - United States TA - Int J Clin Exp Pathol JT - International journal of clinical and experimental pathology JID - 101480565 RN - 0 (CBFB protein, human) RN - 0 (Core Binding Factor beta Subunit) RN - 0 (MYH11 protein, human) RN - 0 (Oncogene Proteins, Fusion) RN - EC 3.6.4.1 (Myosin Heavy Chains) SB - IM MH - Aged MH - Chromosome Inversion MH - Core Binding Factor beta Subunit/*genetics MH - Cytogenetic Analysis MH - Female MH - Humans MH - In Situ Hybridization, Fluorescence MH - Leukemia, Myeloid, Acute/*diagnosis/*genetics MH - Myosin Heavy Chains/*genetics MH - Oncogene Proteins, Fusion/analysis/*genetics MH - Reverse Transcriptase Polymerase Chain Reaction PMC - PMC3515980 OTO - NOTNLM OT - Acute myeloid leukemia OT - CBFB-MYH11 OT - RT-PCR OT - fluorescence in situ hybridization OT - inversion 16 EDAT- 2012/12/14 06:00 MHDA- 2013/07/23 06:00 PMCR- 2012/11/20 CRDT- 2012/12/14 06:00 PHST- 2012/10/09 00:00 [received] PHST- 2012/11/03 00:00 [accepted] PHST- 2012/12/14 06:00 [entrez] PHST- 2012/12/14 06:00 [pubmed] PHST- 2013/07/23 06:00 [medline] PHST- 2012/11/20 00:00 [pmc-release] PST - ppublish SO - Int J Clin Exp Pathol. 2013;6(1):110-2. Epub 2012 Nov 20.