A cytogenetic study of 397 consecutive acute myeloid leukemia cases identified three with a t(7;21) associated with 5q abnormalities and exhibiting similar clinical and biological features, suggesting a new, rare acute myeloid leukemia entity
A cytogenetic study of 397 consecutive acute myeloid leukemia cases identified three with a t(7;21) associated with 5q abnormalities and exhibiting similar clinical and biological features, suggesting a new, rare acute myeloid leukemia entity
复制标题
DOI：
10.1016/j.cancergen.2012.04.007
复制
发表时间：
2012-07-01
期刊：
影响因子：
1.9
通讯作者：
Mauvieux, Laurent
中科院分区：
文献类型：
--
作者：
Jeandidier, Eric;Gervais, Carine;Mauvieux, Laurent
RUNX 1基因与急性髓性白血病（AML）中发生的许多染色体易位有关，并导致嵌合基因。在这项研究中，397例连续AML病例进行了分析，使用RUNX 1荧光原位杂交（FISH）探针。最近描述的三例易位，t（7;21）（p22;q22），被确定为表达RUNX 1-USP 42（泛素特异性蛋白酶42）融合转录本，与5 q异常和超倍体相关。这些病例表现出均匀的形态学特征（包括吞噬作用）和异常表达的CD 56和CD 7淋巴样抗原。虽然很少有数据可从以前报告的情况下，当这些功能存在，详细的染色体分析，包括杂交与RUNX 1 FISH探针，应在诊断进行识别染色体异常。应评价其他t（7;21）阳性AML病例，以更详细地描述这种潜在罕见AML实体。
The RUNX1 gene is implicated in numerous chromosomal translocations that occur in acute myeloid leukemia (AML) and result in chimeric genes. In this study, 397 consecutive AML cases were analyzed using RUNX1 fluorescence in situ hybridization (FISH) probes. Three cases of the recently described translocation, t(7;21)(p22;q22), were identified, which expressed RUNX1-USP42 (ubiquitin-specific protease 42) fusion transcripts, associated with 5q abnormalities and hyperploidy. These cases displayed homogeneous morphological features (including phagocytosis) and aberrantly expressed CD56 and CD7 lymphoid antigens. Although very few data are available from previously reported cases, when these features are present, a detailed chromosomal analysis, including hybridization with RUNX1 FISH probes, should be performed at diagnosis to recognize chromosomal abnormalities. Additional cases of t(7;21) positive AML should be evaluated to characterize this potentially rare AML entity in greater detail.