Rausei-Mills Veronica, Chang Karen L, Gaal Karl K, Weiss Lawrence M, Huang Qin
Division of Pathology, City of Hope National Medical Center, Duarte, CA 91010, USA.
Am J Clin Pathol. 2008 Apr;129(4):624-9. doi: 10.1309/NRTX9AKXHR5JBT93.
Acute myeloid leukemia (AML) with normal cytogenetics represents approximately 40% to 50% of de novo AML. This heterogeneous AML subgroup constitutes the single largest cytogenetic group with an intermediate prognosis. Previous studies have suggested that the Fms-like tyrosine kinase-3 internal tandem duplication (FLT3/ITD) mutation-positive de novo AML may represent a distinctive subgroup of AML. We analyzed the clinical and pathologic features of 15 cases of de novo AML with normal cytogenetics and with the FLT3/ITD mutation. In comparison with patients with AML without the FLT3/ITD mutation, patients with FLT3/ITD+ AML are relatively younger, more often have marked peripheral leukocytosis with a higher number of circulating blasts at initial examination, more often have minimal differentiation morphologic features, more frequently have abnormal CD7 coexpression, and have poorer outcome. Close association of aberrant CD7 expression and FLT3/ITD mutation in the myeloblasts of FLT3/ITD+ AML suggests that FLT3/ITD- mediated leukemic transformation occurs in the more early stage of myeloid progenitor cells.
细胞遗传学正常的急性髓系白血病(AML)约占初发AML的40%至50%。这个异质性AML亚组是具有中等预后的最大细胞遗传学组。先前的研究表明,Fms样酪氨酸激酶-3内部串联重复(FLT3/ITD)突变阳性的初发AML可能代表AML的一个独特亚组。我们分析了15例细胞遗传学正常且伴有FLT3/ITD突变的初发AML的临床和病理特征。与无FLT3/ITD突变的AML患者相比,FLT3/ITD+ AML患者相对年轻,初诊时更常出现明显的外周血白细胞增多且循环原始细胞数量更高,更常具有微小分化的形态学特征,更频繁地出现异常CD7共表达,且预后较差。FLT3/ITD+ AML的成髓细胞中异常CD7表达与FLT3/ITD突变密切相关,提示FLT3/ITD介导的白血病转化发生在髓系祖细胞的更早阶段。