Gupta Ruchi, Harankhedkar Shivangi, Rahman Khaliqur, Singh Manish K, Chandra Dinesh, Mittal Navkirti, Gupta Anshul, Nityanand Soniya
Department of Hematology, I Block, Sanjay Gandhi Post Graduate Institute of Medical Sciences (SGPGIMS), Raibareily Road, Lucknow, Uttar Pradesh 226014 India.
Indian J Hematol Blood Transfus. 2018 Oct;34(4):602-611. doi: 10.1007/s12288-018-0941-1. Epub 2018 Mar 5.
Chromosome 7 abnormalities in patients with myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) heralds a poor prognosis. However its prevalence, morphological characteristics and clinical impact in MDS and AML in Indian subcontinent is sparsely reported. This was an observational cross-sectional study performed to evaluate the clinico-pathological profiles of MDS/AML patients with chromosome 7 abnormalities over a period of 4 years. 724 cases of MDS (n = 150) and AML (n = 574) were evaluated. Abnormal karyotype was detected in 49% (43/88) patients of MDS and 44% (127/289) cases of AML. Chromosome 7 abnormalities were detected in 18% cases of MDS (16/88) and 6.5% (19/289) cases of AML. Sole chromosome 7 abnormalities were detected in 5.7% (5/88) and 2.7% (8/289) and in adjunct to complex abnormalities in 7.9 and 3.1% cases of MDS and AML respectively. Morphologically, dyserythropoiesis, dysmyelopoiesis and eosinophilia were seen in 100, 66 and 56% cases of MDS and 38, 40 and 21% cases of AML. Majority of the patients had an aggressive natural course and outcome was dismal. Chromosome 7 abnormalities are strongly associated with the presence of morphological dysplasia and eosinophilia, irrespective of the type of aberration. It is invariably associated with very poor outcome.
骨髓增生异常综合征(MDS)和急性髓系白血病(AML)患者的7号染色体异常预示着预后不良。然而,在印度次大陆,其在MDS和AML中的患病率、形态学特征及临床影响鲜有报道。这是一项观察性横断面研究,旨在评估4年间伴有7号染色体异常的MDS/AML患者的临床病理特征。共评估了724例MDS(n = 150)和AML(n = 574)病例。49%(43/88)的MDS患者和44%(127/289)的AML病例检测到核型异常。18%(16/88)的MDS病例和6.5%(19/289)的AML病例检测到7号染色体异常。单独的7号染色体异常分别在5.7%(5/88)的MDS病例和2.7%(8/289)的AML病例中检测到,在伴有复杂异常的病例中,MDS和AML分别为7.9%和3.1%。形态学上,100%、66%和56%的MDS病例以及38%、40%和21%的AML病例可见红系造血异常、髓系造血异常和嗜酸性粒细胞增多。大多数患者病程进展迅速,预后不佳。7号染色体异常与形态学发育异常和嗜酸性粒细胞增多密切相关,与畸变类型无关。它总是与非常差的预后相关。