- 関
- 再現性のある染色体転座を伴うAML。急性骨髄性白血病
WordNet
- a message whose ingenuity or verbal skill or incongruity has the power to evoke laughter (同)humor, humour, witticism, wittiness
- (genetics) an exchange of chromosome parts; "translocations can result in serious congenital disorders"
- the transport of dissolved material within a plant
- of or relating to cytogenetics (同)cytogenetical
PrepTutorEJDIC
- 《随伴・協調》…『と』,と共に,といっしょに / 《所有・所持》…『を持っている』,がある,の付いた / 《道具・手段》…『で』,を使って / 《財料・供給物》…『で』,を与えて / …を支持して,に賛成して / …『に反対(敵対)して』,を相手として / …『と同時に』,と同様に / …『に比べて』,に比例して / 《様態》《名詞を伴い副詞句として》『…で』,を示して,をもって / 《付帯状競》…『して』,しながら / 《譲歩》…がありながら,にもかかわらず / 『…が原因で』,のために,…で / …に任せて,のもとにあずけて,のところに / …に関して,について / …から離れて / 《連結・混合》…と / 《副詞と共に命令文で》
- 知る(know)
- 〈U〉『機知』,機転,ウィット / 〈C〉『機知に富む人』,機転のきく人 / 《複数形で;単数扱い》『理解(表現)力』,知性 / 《複数形で》(物事を見抜いたりもくろんだりする)才覚,才知 / 《複数形で;単数扱い》正気
- 再発する;繰り返し起こる
UpToDate Contents
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English Journal
- Core-binding factor acute myeloid leukemia.
- Sangle NA, Perkins SL.Author information Department of Pathology, University of Utah Health Sciences Center, 50 N Medical Dr, Salt Lake City, Utah 84132, USA. nikhil_sangle@yahoo.comAbstractCore-binding factor acute myeloid leukemia (AML) is cytogenetically defined by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22), commonly abbreviated as t(8;21) and inv(16), respectively. In both subtypes, the cytogenetic rearrangements disrupt genes that encode subunits of core-binding factor, a transcription factor that functions as an essential regulator of normal hematopoiesis. The rearrangements t(8;21) and inv(16) involve the RUNX1/RUNX1T1 ( AML1-ETO ) and CBFB/MYH11 genes, respectively. These 2 subtypes are categorized as AML with recurrent genetic abnormalities, and hence the cytogenetic fusion transcripts are considered diagnostic of acute leukemia even when the marrow blast count is less than 20%. The t(8;21) and inv(16) subtypes of AML have been usually grouped and reported together in clinical studies; however, recent studies have demonstrated genetic, clinical, and prognostic differences, supporting the notion that they represent 2 distinct biologic and clinical entities. This review summarizes the spectrum of this subset of AMLs, with particular emphasis on molecular genetics and pathologic findings.
- Archives of pathology & laboratory medicine.Arch Pathol Lab Med.2011 Nov;135(11):1504-9. doi: 10.5858/arpa.2010-0482-RS.
- Core-binding factor acute myeloid leukemia (AML) is cytogenetically defined by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22), commonly abbreviated as t(8;21) and inv(16), respectively. In both subtypes, the cytogenetic rearrangements disrupt genes that encode subunits of core
- PMID 22032582
- Expression of NUP98/TOP1, but not of TOP1/NUP98, in a treatment-related myelodysplastic syndrome with t(10;20;11)(q24;q11;p15).
- Panagopoulos I, Fioretos T, Isaksson M, Larsson G, Billström R, Mitelman F, Johansson B.Author information Department of Clinical Genetics, University Hospital, Lund, Sweden. ioannis.panagopoulos@klingen.lu.seAbstractThe t(11;20)(p15;q11) is a rare but recurrent translocation that so far has been described in only four acute myeloid leukemias (AMLs), two treatment-related myelodysplastic syndromes (t-MDSs), and one case of polycythemia vera. Recently, the t(11;20) was shown to result in a fusion of the NUP98 and TOP1 genes, with expression of the NUP98/TOP1 chimera encoded by the der(11)t(11;20), but not of the reciprocal TOP1/NUP98 on the der(20)t(11;20). The genomic breakpoints were subsequently mapped to introns 13 and 7 of NUP98 and TOP1, respectively. We present here a t-MDS with a three-way variant translocation, t(10;20;11)(q24;q11;p15), that generates a der(11)t(11;20) but not a der(20)t(11;20), strongly suggesting that the der(11) harbors the critical genetic rearrangement. Reverse transcriptase-polymerase chain reaction (RT-PCR) revealed a NUP98/TOP1 fusion in which exon 13 of NUP98 was fused in-frame with exon 8 of TOP1. Extra long (XL) genomic PCR and subsequent sequence analyses showed that the breakpoint in NUP98 occurred at nucleotide (nt) 3461 of intron 13, close to a MER (medium reiteration frequency interspersed repetitive element) repeat, and that the breakpoint in TOP1 was at nt 1436 of intron 7, downstream of a MIR (mammalian-wide interspersed repeats) repetitive element. Genomic XL PCR did not amplify the reciprocal TOP1/NUP98, nor was this chimera expressed, as expected from the cytogenetic finding. The present results provide further support for the involvement of the NUP98/TOP1 transcript, but not of the reciprocal one, in the development of MDS/AML. Furthermore, the three cases genomically characterized to date have all been treatment-related and have all harbored breakpoints in intron 13 of NUP98 and intron 7 of TOP1, suggesting that these introns are susceptible to chemotherapy-induced breakage.
- Genes, chromosomes & cancer.Genes Chromosomes Cancer.2002 Jun;34(2):249-54.
- The t(11;20)(p15;q11) is a rare but recurrent translocation that so far has been described in only four acute myeloid leukemias (AMLs), two treatment-related myelodysplastic syndromes (t-MDSs), and one case of polycythemia vera. Recently, the t(11;20) was shown to result in a fusion of the NUP98 and
- PMID 11979559
Related Links
- 再現性のある染色体転座を伴うAML (AMLs with recurrent cytogenetic translocations). t(8;21)(q22;q22) 転座を持つAML: FAB分類のM2の一部; 急性前 骨髄球性白血病 (Acute promyelocytic leukemia): FAB分類のM3。転座t(15;17)がみ られる; 骨髄中 ...
- Cytogenetic findings have contributed to the understanding of morphological and clinical heterogeneity of AML. Molecular genetic analysis of recurrent translocations and inversions has led to clone genes adjacent to chromosome breakpoint ...
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- 英
- AML with recurrent genetic abnormalities？
- 関
- 急性骨髄性白血病。再現性のある染色体転座を伴うAML AMLs with recurrent cytogenetic translocations
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- iterative、recurrence、recurrently、regression、relapsing、repetitive
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- cytogenetic finding 細胞遺伝学的所見
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- cytogenetical、cytogenetically、cytogenetics
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- 関
- cytogenetic