Jaén A, Irriguible D, Milla F, Vallespi T, Torrabadella M, Abella E, Lafuente R, Woessner S
Servicios de Hematología y Hemoterapia, Hospital General 'Val d'Hebrón, Barcelona, España.
Eur J Haematol. 1990 Oct;45(4):209-14. doi: 10.1111/j.1600-0609.1990.tb00459.x.
We report 6 patients with myelodysplastic syndrome, all of whom showed a bizarre nuclear anomaly within the neutrophils that was characterized by extensive clumping of chromatin into large blocks separated by clear zones, generally associated with a lack of segmentation. Anaemia, thrombocytopenia, variable leucocyte counts with leucoerythroblastic picture, marrow hypercellularity with granulocytic hyperplasia and moderate dysplastic changes in erythroblastic and megakaryocytic lines were present at diagnosis. 2 patients had normal karyotypes and a 3 showed a deletion of chromosome 14. 5 out of 6 patients had pneumonia at diagnosis. The median survival was short (5 months) and haemorrhagic complications were the cause of death in 4 patients. The clinical features and the evolution of these and other reported cases suggest that the presence of abnormal chromatin clumping in leucocytes might be a clue to a new subtype of myelodysplastic syndrome.
我们报告了6例骨髓增生异常综合征患者，所有患者的中性粒细胞均显示出一种奇异的核异常，其特征是染色质广泛聚集形成大的块状物，被清晰区域分隔，通常伴有核分叶缺乏。诊断时存在贫血、血小板减少、伴有幼稚粒-幼红细胞血象的白细胞计数变化、骨髓细胞增多伴粒细胞增生以及红系和巨核细胞系的中度发育异常改变。2例患者核型正常，3例显示14号染色体缺失。6例患者中有5例在诊断时有肺炎。中位生存期较短（5个月），4例患者死于出血并发症。这些病例以及其他报告病例的临床特征和病程提示，白细胞中异常染色质聚集的存在可能是骨髓增生异常综合征一种新亚型的线索。
