Amplification of the AML1(CBFA2) gene on ring chromosomes in a patient with acute myeloid leukemia and a constitutional ring chromosome 21
Amplification of the AML1(CBFA2) gene on ring chromosomes in a patient with acute myeloid leukemia and a constitutional ring chromosome 21
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DOI：
10.1016/s0165-4608(00)00318-6
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发表时间：
2001-01-01
影响因子：
--
通讯作者：
Fonatsch, C
中科院分区：
文献类型：
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作者：
Streubel, B;Valent, P;Fonatsch, C
在血液肿瘤的发生中，基因扩增是原癌基因非法激活的一种机制。我们报告一例表型正常的患者，其21号染色体构成环发展为急性髓系白血病(BML)。白血病细胞显示了大小可变的21号环形染色体，并扩增了原癌基因AML1，位于染色体带21q22。在环内。到目前为止，原癌基因AM1的扩增-也是以环状染色体的形式-最近只在一名骨髓增生异常综合征(MDS)患者中被描述。在AML中，仅在另外3例患者中证实了通过环形成的基因扩增(2例MLL基因扩增，1例ETV6基因扩增)。在这里，我们提出了新的证据，即构成环21号染色体的内部重排导致了原癌基因在骨髓细胞中的增殖，并提供了明显的选择性生长优势。此外，在肿瘤细胞的环形染色体上还观察到核糖体DNA的扩增。(C)2001 Elsevier Science Inc.保留所有权利。
In the genesis of hematologic neoplasms gene amplification is a mechanism for illegitimate activation of proto-oncogenes. We report a phenotypically normal patient with a constitutional ring chromosome 21 who developed acute myeloid leukemia (BML). The leukemic cells revealed size-variable ring chromosomes 21 with amplification of the proto-oncogene AML1, located in the chromosomal band 21q22. within the rings. Hitherto, amplification of the proto-oncogene AM1-also in form of a ring chromosome-has been described recently only in one patient with myelodysplastic syndrome (MDS). In AML, gene amplification by ring formation has been demonstrated only in another three patients (amplification of the MLL gene in two cases and of the ETV6 gene in one case). Here we present the new evidence that the internal rearrangement of a constitutional ring chromosome 21 resulted in multiplication of a proto-oncogene in bone marrow cells and provided obviously a selective growth advantage. Moreover the amplification of ribosomal DNA was observed in the ring chromosomes of the tumor cells. (C) 2001 Elsevier Science Inc. All rights reserved.