Characterization of 12p molecular events outside ETV6 in complex karyotypes of acute myeloid malignancies
Characterization of 12p molecular events outside ETV6 in complex karyotypes of acute myeloid malignancies
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急性髓系恶性肿瘤复杂核型中 ETV6 之外 12p 分子事件的表征
DOI：
10.1046/j.1365-2141.1999.01724.x
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发表时间：
1999
影响因子：
6.5
通讯作者：
C. Mecucci
中科院分区：
文献类型：
--
作者：
R. la Starza;M. Stella;N. Testoni;E. di Bona;S. Ciolli;P. Marynen;M. Martelli;F. Mandelli;C. Mecucci
ETV 6基因外12 p重排的急性髓系疾病的特征在于荧光原位杂交（FISH）与一组DNA探针。7例新发急性髓性白血病（AML）患者、1例继发性急性髓性白血病（sAML）患者和1例慢性髓性白血病（CML‐BP）急变期患者入组研究。所有AML病例均表现为多核型改变。5号和/或7号染色体缺失是最常见的伴随变化。FISH显示扩增，隐性易位，和12号染色体片段，在核型水平上不可辨别。不同的核型重排12 p显示了一个共同的分子事件。在可以确定断裂点的7例中，6例为ETV 6的端粒断裂点，1例为ETV 6的着丝粒断裂点。在三个AML病例中，在端粒区域中的新的复发性断点被鉴定为远离位点D12 S158和pac 922 B22，pac 922 B22是12 p可用的最端粒探针。在5名患者中还检测到伴随的隐性缺失，通常缺失的区域约为700 kb，包括ETV 6基因和D12 S391位点。
Acute myeloid disorders with rearrangements of 12p outside the ETV6 gene were characterized by fluorescence in situ hybridization (FISH) with a panel of DNA probes. Seven patients with de novo acute myeloid leukaemia (AML), one with secondary acute myeloid leukaemia (sAML), and one in the blast phase of chronic myeloid leukaemia (CML‐BP) were enrolled in the study. All AML cases showed multiple karyotypic changes. Chromosome 5 and/or 7 deletions were the most frequent accompanying changes. FISH revealed amplification, cryptic translocation, and fragmentation of chromosome 12, not discernible at karyotypic level. Different karyotypic rearrangements of 12p showed a common molecular event. Among the seven cases in which breakpoints could be determined, six were telomeric and one centromeric to ETV6. In three AML cases a new recurrent breakpoint in the telomeric region was identified distally to locus D12S158 and to pac 922B22 which is the most telomeric probe available for 12p. Accompanying cryptic deletions were also detected in five patients and the commonly deleted region, of around 700 kb, included the ETV6 gene and the D12S391 locus.
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DOI：
10.1073/pnas.92.11.4917
发表时间：
1995-05-23
影响因子：
11.1
作者：
GOLUB, TR;BARKER, GF;GILLILAND, DG
通讯作者：
GILLILAND, DG
影响因子：
11.2
作者：
F. Leach;S. Elledge;C. Sherr;J. Willson;S. Markowitz;K. Kinzler;B. Vogelstein
通讯作者：
F. Leach;S. Elledge;C. Sherr;J. Willson;S. Markowitz;K. Kinzler;B. Vogelstein
通过荧光原位杂交鉴定的血液恶性肿瘤中涉及带 12p13 的平衡重排断点的异质性：TEL (ETV6 ) 仅涉及一半。
影响因子：
20.3
作者：
Sato,Y;Bohlander,SK;Kobayashi,H;Reshmi,S;Suto,Y;Davis,EM;Espinosa,R;Hoopes,R;Montgomery,KT;Kucherlapati,RS;LeBeau,MM;Rowley,JD
通讯作者：
Rowley,JD
影响因子：
45.3
作者：
LEBEAU, MM;ALBAIN, KS;ROWLEY, JD
通讯作者：
ROWLEY, JD