Thiede T, Engquist L, Billström R
Department of Pathology, Central Hospital, Jönköping, Sweden.
Eur J Haematol. 1988 Nov;41(5):434-7. doi: 10.1111/j.1600-0609.1988.tb00223.x.
In order to evaluate the diagnostic importance of the megakaryocytic morphology in the 5q- syndrome we studied the bone marrow from 48 unselected patients with myelodysplastic syndromes (MDS). 44 cases were primary and 4 secondary to cytostatic drug treatment or irradiation. There were 24 cases with chromosome anomalies, of whom 10 had del (5q). 4 of these had refractory anaemia (RA) with 5q- as the sole anomaly (group A), 2 had RA with 5q- and additional chromosome anomalies consisting of trisomy 8 (group B); 3 patients had RA with excess of blasts (RAEB) and complex, karyotypic changes also including 5q- (group B). Changes of the same type were found in 1 case of multiple myeloma with secondary MDS. All 6 RA patients with 5q- had characteristic megakaryocytes. More than 50% of the cells had no more than 2 nuclear segments, and predominantly had a diameter of 30 micron or more. No other patient with RA showed this picture. Only 1 patient with RAEB 5q- in group B had the same megakaryocytic changes. We conclude that diagnosis of a 5q- syndrome may be strongly suspected in cases of RA with these bone marrow changes. In cases of RAEB 5q- group B the bone marrow examination did not reveal the same consistent changes.
为了评估巨核细胞形态学在5q-综合征中的诊断重要性，我们研究了48例未经挑选的骨髓增生异常综合征（MDS）患者的骨髓。44例为原发性，4例继发于细胞毒性药物治疗或放疗。有24例存在染色体异常，其中10例有5号染色体长臂缺失（del(5q)）。其中4例为单纯5q-异常的难治性贫血（RA）（A组），2例为伴有5q-及额外8号染色体三体异常的RA（B组）；3例为伴有原始细胞增多的难治性贫血（RAEB）且核型复杂改变，也包括5q-（B组）。1例继发性MDS的多发性骨髓瘤患者也发现了相同类型的改变。所有6例伴有5q-的RA患者均有特征性巨核细胞。超过50%的细胞核段不超过2个，且主要直径为30微米或更大。其他RA患者均未出现此表现。B组中只有1例伴有5q-的RAEB患者有相同的巨核细胞改变。我们得出结论，在出现这些骨髓改变的RA病例中，强烈怀疑为5q-综合征。在B组伴有5q-的RAEB病例中，骨髓检查未发现相同的一致性改变。
