Genetic study of rare t（8;4;21）（q22;p15;q22）:a cryptic and complex variant of t（8;21）
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摘要: 目的:报道1例具有隐匿复杂变异易位-t(8;4;21)的M2型急性髓性白血病的遗传学及临床特征。方法:利用骨髓细胞短期培养法制备染色体标本;应用G显带技术进行核型分析;利用双色双融合荧光原位杂交检测RUNX1/RUNX1T1融合基因;采用实时荧光定量RT-PCR检测RUNX1/RUNX1T1融合基因转录本。结果:患者最初核型结果为46,XX,t(4;8)(p15;q22)[3]/45,sl,-X[17],但双色双融合荧光原位杂交证实存在RUNX1/RUNX1T1融合基因和变异易位,同时实时荧光定量RT-PCR检测到RUNX1/RUNX1T1融合基因转录本。因此核型结果最终修订为:46,XX,t(8;4;21)(q22;p15;q22)[3]/45,sl,-X[17],是一种t(8;21)隐匿复杂变异型易位。结论:联合双色双融合荧光原位杂交和实时荧光定量RT-PCR检测有助于鉴定出变异型t(8;21)易位。Abstract: Objective:To report the genetic characters of acute myeloid leukemia with t(8;4;21),a cryptic complex variant of t(8;21).Method:Chromosome specimen was prepared by short-term culture of bone marrow cells,and karyotype analysis was carried out using G-banding techniques.Fluorescence in situ hybridization (FISH) was performed using dual color dual fusion probe to detect fusion gene RUNX1/RUNX1T1,and real-time RT-PCR was performed to detect the transcripts of this fusion gene.Result:The original karyotype of this patient was 46,XX,t(4;8)(p15;q22)[3]/45,sl,-X[17].While dual color dual fusion FISH suggested the existence of fusion gene RUNX1/RUNX1T1 and a variant of the translocation,meanwhile transcripts of this fusion gene were detected by real-time RT-PCR.Therefore,the revised karyotype was 46,XX,t(8;4;21)(q22;p15;q22)[3]/45,sl,-X[17],which is a very rare cryptic and complex variant of t(8;21).Conclusion:Combined tests of dual color dual fusion FISH and real-time RT-PCR contribute to identification of rare variants of t(8;21).
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Key words:
- acute myeloid leukemia /
- t (8 /
- 21) /
- cryptic variant /
- fluorescence in situ hybridization /
- real-time RT PCR
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[1] Camerdinger U, Teigler-Schlegel A, Pils S, et al.Cryptic chromosomal aberrations leading to an AML1/ETO rearrgement are frequently caused by small insertions[J].Genes Chromosomes Cancer, 2003, 36:261-272.
[2] Peterson LF, zhang DE.The 8;21translocation in leukemogenesis[J].Oncogene, 2004, 23:4255-4262.
[3] Kuchenbauer F, Schnittger S, Look T, et al.Identification of additional cytogenetic and molecular genetic abnormalities in acute myeloid leukaemia with t (8;21)/AML1-ETO[J].Br J Haematol, 2006, 134:616-619.
[4] Vieira L, Oliveira V, Ambrósio AP, et al.Translocation (8;17;15;21) (q22;q23;q15;q22) in acute myeloid leukemia (M2):a four-way variant of t (8;21)[J].Cancer Genet Cytogenet, 2001, 128:104-107.
[5] Gabert J, Beillard E, van der Velden VH, et al.Standardization and quality control studies of'real-time'quantitative reverse transcriptase polymerase chain reaction of fusion gene transcripts for residual disease detection in leukemia-a Europe Against Cancer program[J].Leukemia, 2003, 17:2318-2357.
[6] Beillard E, Pallisgaard N, van der Velden VH, et al.Evaluation of candidate control genes for diagnosis and residual disease detection in leukemic patients using'real-time'quantitative reverse-transcriptase polymerase chain reaction (RQ-PCR) -a Europe against cancer program[J].Leukemia, 2003, 17:2474-2486.
[7] Vundinti BR, Kerketta L, Madkaikar M, et al.Three way translocation in a new variant of t (8;21) acute myeloid leukemia involving Xp22[J].Indian J Cancer, 2008, 45:30-32.
[8] Ahmad F, Kokate P, Chheda P, et al.Molecular cytogenetic findings in a three-way novel variantof t (1;8;21) (p35;q22;q22):a unique relocationof the AML1/ETO fusion gene 1p35 in AML-M2[J].Cancer Genet Cytogenet, 2008, 180:153-157.
[9] Kim H, Moon HW, Hur M, et al.Acute myeloid leukemia with a RUNX1-RUNX1T1t (1;21;8) (q21;q22;q22) novel variant:a case report and review of the literature[J].Acta Haematol, 2011, 125:237-241.
[10] 于力.血液系统恶性肿瘤精准诊疗现状与进展[J].临床血液学杂志, 2017, 30 (5):335-338.
[11] 冶秀鹏, 包慎, 魏玉萍, 等.以慢性粒单核细胞白血病样表现的急性髓细胞白血病1例并文献复习[J].临床血液学杂志, 2016, 29 (11):915-917.
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