Pang Changlee S, Pettenati Mark J, Pardee Timothy S
Department of Pathology, Wake Forest University School of Medicine, Medical Center Boulevard, Winston Salem, North Carolina, USA.
Department of Genetics, Wake Forest University School of Medicine, Medical Center Boulevard, Winston Salem, North Carolina, USA.
J Clin Pathol. 2015 Mar;68(3):236-40. doi: 10.1136/jclinpath-2014-202697. Epub 2015 Jan 6.
Near-tetraploidy/tetraploidy (NT/T) is a rare cytogenetic alteration in acute myeloid leukaemia (AML). NT/T-AML is categorised as complex cytogenetics and therefore, presumed to have an unfavourable prognosis. Our aim is to further characterise the clinical, morphological, cytogenetic and prognostic features of NT/T-AML.
We searched our cytogenetic laboratory database from 1991 to 2012 to reveal 13 cases of NT/T-AML. Each case was evaluated with regard to its demographics, morphology, immunophenotype and prognosis. Specific morphological features included blast size, irregularity of nuclear contours, cytoplasmic vacuoles, and presence and lineage of dysplasia.
Eleven men and two women had a median age of 68 years. Blasts were predominately large (11/13). Eight of 13 patients had AML with myelodysplasia-related changes. Sixty-nine per cent of patients achieved complete remission (CR). Median overall survival (OS) was 8.6 months. CR rate and median OS in cases with ≥ 5 cytogenetic abnormalities were 71% and 6 months, compared with 67% and 18.1 months in cases with <5 abnormalities.
NT/T-AML occurs in older males, exhibits large blast size and is associated with myelodysplasia. Unlike previously reported data, our study reveals an overall better prognosis in this older population with NT/T-AML than was expected for a complex karyotype AML. Cytogenetic complexity independent of ploidy status did not greatly affect the high CR rates, but did appear to be a better estimation of prognostic risk in terms of median OS.
近四倍体/四倍体(NT/T)是急性髓系白血病(AML)中一种罕见的细胞遗传学改变。NT/T-AML被归类为复杂细胞遗传学,因此,推测其预后不良。我们的目的是进一步描述NT/T-AML的临床、形态学、细胞遗传学和预后特征。
我们检索了1991年至2012年我们细胞遗传学实验室数据库,以找出13例NT/T-AML病例。对每个病例的人口统计学、形态学、免疫表型和预后进行评估。具体形态学特征包括原始细胞大小、核轮廓不规则、细胞质空泡以及发育异常的存在和谱系。
11名男性和2名女性,中位年龄为68岁。原始细胞主要为大细胞(13例中的11例)。13例患者中有8例患有与骨髓发育异常相关改变的AML。69%的患者达到完全缓解(CR)。中位总生存期(OS)为8.6个月。细胞遗传学异常≥5例的患者CR率和中位OS分别为71%和6个月,而细胞遗传学异常<5例的患者分别为67%和18.1个月。
NT/T-AML发生于老年男性,表现为原始细胞大,且与骨髓发育异常相关。与先前报道的数据不同,我们的研究显示,在这个患有NT/T-AML的老年人群中,总体预后比复杂核型AML预期的要好。独立于倍体状态的细胞遗传学复杂性并未对高CR率产生很大影响,但就中位OS而言,似乎是预后风险的更好估计。