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特发性难治性铁粒幼细胞贫血(IRSA)的细胞遗传学和血液学随访研究(作者译)

[Cytogenetic and hematologic follow-up studies in idiopathic refractory sideroblastic anemia (IRSA) (author's transl)].

作者信息

Mende S, Weissenfels I, Pribilla W

出版信息

Blut. 1980 Nov;41(5):367-76. doi: 10.1007/BF01035492.

Abstract

In ten patients with IRSA, chromosome analysis and bone marrow cytology were performed once or several times during 24 months. Bone marrow chromosomes from eight patients showed a normal karyotype. Two patients were found to have stable clonal chromosome aberrations (45, X,-Y[male] and 46, XX,+mar). In a median duration of 6.8 years of IRSA no patient has yet developed acute leukemia. In another ten deceased patients with IRSA no evidence of leukemia, but a carcinoma of colon and prostate were observed in a latency of 7.7 years. Three patients with symptomatic SA developed in 1-15 months an acute leukemia. Two of them showed severe instable clonal chromosome abnormalities. Distinct bone marrow abnormalities (increase of blasts, normal cellularity, reversed M:E ratio, PAS-pos. erythroblasts), thrombocytopenia, and major clonal chromosome aberrations may help to differentiate IRSA from preleukemic states with symptomatic SA.

摘要

在10例原发性难治性血细胞减少症(IRSA)患者中,在24个月内进行了一次或多次染色体分析和骨髓细胞学检查。8例患者的骨髓染色体核型正常。发现2例患者有稳定的克隆性染色体异常(45,X,-Y[男性]和46,XX,+mar)。在IRSA的中位病程6.8年中,尚无患者发展为急性白血病。在另外10例已故的IRSA患者中,无白血病证据,但在7.7年的潜伏期观察到结肠癌和前列腺癌。3例有症状的难治性血细胞减少症(SA)患者在1至15个月内发展为急性白血病。其中2例表现出严重的不稳定克隆性染色体异常。明显的骨髓异常(原始细胞增多、细胞数量正常、髓红比例倒置、糖原染色阳性的成红细胞)、血小板减少和主要的克隆性染色体畸变可能有助于将IRSA与有症状的SA的白血病前期状态区分开来。

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