May D, Becher R
Innere Universitäts- und Poliklinik (Tumorforschung), Westdeutsches Tumorzentrum Essen.
Med Klin (Munich). 1992 Aug 15;87(8):408-11.
The clinical picture and the course of the disease of seven patients with the 5q-syndrome are described. Examination of peripheral blood revealed refractory anaemia with macrocytosis, anisocytosis, poikilocytosis of erythrocytes, and platelet anisocytosis with some giant platelets. Characteristic bone marrow findings are megaloblastic dyserythropoiesis and micromegakaryocytes with hypolobulated nuclei. Cytogenetically, an interstitial deletion of the long arm of chromosome 5 is always found, associated with a haploid loss of the genes for the growth factors GM-CSF, M-CSF and IL-3. The disease is usually chronic, and only in the case of clonal evolution is there a considerable risk of leukemic transformation occurring. In the chronic phase, infusion of packed red cells as required individually has proved a reliable form of treatment. The results of chemotherapy have disappointed both in the chronic and acute phases of the disease.
描述了7例5q综合征患者的临床表现和病程。外周血检查显示难治性贫血伴大细胞性贫血、红细胞大小不均、异形红细胞症以及血小板大小不均并伴有一些巨大血小板。特征性的骨髓表现为巨幼细胞性红细胞生成异常和核分叶过少的微巨核细胞。细胞遗传学上，总是发现5号染色体长臂的间质缺失，并伴有生长因子GM-CSF、M-CSF和IL-3基因的单倍体丢失。该疾病通常为慢性，仅在克隆进化的情况下才有白血病转化的相当大风险。在慢性期，根据个体需要输注浓缩红细胞已被证明是一种可靠的治疗方式。化疗在该疾病的慢性期和急性期的结果均令人失望。
