Essential thrombocythemia with ringed sideroblasts: a heterogeneous spectrum of diseases, but not a distinct entity.
Essential thrombocythemia with ringed sideroblasts: a heterogeneous spectrum of diseases, but not a distinct entity.
复制标题
伴有环状铁粒幼细胞的原发性血小板增多症：一系列异质性疾病，但不是一个独特的实体。
作者：
A. Schmitt;J. Thiele;I. Zuk;H. Kvasnicka
背景和目标
根据最近公布的WHO分类，原发性血小板增多症伴环形铁粒幼细胞（ET/RS）仍然是一个模糊的类别，可被视为骨髓增生异常/骨髓增生性疾病，无法分类。因为到目前为止，只有病例报告或非常小的一系列患者已经描述，一个更系统的研究是必要的。
设计和方法
对38例诊断为ET/RS且涂片上环形铁粒幼细胞超过15%的患者进行了回顾性评价。同时进行骨髓活检，随访检查和生存数据也是可用的。
结果
根据细胞学特征和特殊的骨髓表现，包括免疫组化，可以确定三种模式。这些与不同的临床特征，特别是预后有关。第一组包括6例诊断与ET一致的患者，第二组包括21例显示纤维化前和早期纤维化慢性特发性骨髓纤维化（CIMF）的患者，最后11例（第三组）显示骨髓增生异常综合征（MDS）。随访研究显示，没有ET患者表现出纤维增加，但8例CIMF患者发生了明显的骨髓纤维化，4例MDS患者发生了继发性急性髓细胞白血病。与对照组39例真正的ET患者相比，预后显著不同，因为我们的队列显示中位生存期为100个月，与真正的ET患者的170个月形成显著对比。
解释和结论
环形铁粒幼细胞并不是MDS的特征性特征，但可能表明发育异常，可能与多种疾病中的原发性或继发性铁代谢紊乱有关。因此，通过评估涂片，特别是骨髓活检标本，可以更准确地对所谓的ET/RS患者进行分类。根据我们的研究结果，这些患者应归类为ET，CIMF或MDS，并显示出显着不同的生存模式。
BACKGROUND AND OBJECTIVES
According to the recently published WHO-classification essential thrombocythemia with ringed sideroblasts (ET/RS) remains an ambiguous category which may be considered as myelodysplastic/myeloproliferative disease, unclassifiable. Because until now only case reports or very small series of patients have been described, a more systematically performed study is warranted.
DESIGN AND METHODS
A retrospective evaluation was carried out on 38 patients with the diagnosis of ET/RS and more than 15 % ringed sideroblasts on smears. Simultaneously performed bone marrow biopsies, follow-up examinations and survival data were also available.
RESULTS
Based on cytological features and particular bone marrow findings including immunohistochemistry three patterns could be determined. These were associated with different clinical features and in particular prognosis. Group I included six patients whose diagnosis was consistent with ET, group II comprised 21 patients revealing prefibrotic and early fibrotic chronic idiopathic myelofibrosis (CIMF) and finally 11 patients (group III) displayed myelodysplastic syndromes (MDS). Follow-up studies revealed that no patient with ET showed a fiber increase but eight CIMF patients developed overt myelofibrosis and four patients of the MDS group developed secondary acute myeloid leukemia. In comparison with a control group of 39 patients with true ET, prognosis was significantly different because our cohort showed a median survival of 100 months that contrasted significantly with the 170 months in the patients with true ET.
INTERPRETATION AND CONCLUSIONS
Ringed sideroblasts are not a pathognomonic feature of MDS, but may indicate a dysplasia probably associated with a primary or secondary disturbance of iron metabolism in a variety of disorders. For this reason, a more accurate classification of so-called ET/RS patients is warranted by evaluation of smears and in particular bone marrow biopsy specimens. According to our findings these patients should be classified as having either ET, CIMF or MDS and show a significantly different survival pattern.