Irfan M, Kakepoto G N, Khursheed M
Department of Pathology, Aga Khan University Hospital, Karachi.
J Pak Med Assoc. 1998 Mar;48(3):69-73.
Fifty three (45 males, 8 females) patients with primary meylodysplastic syndrome were seen between January 1990 and June, 1996. Fifteen (28%) patients had refractory anaemia (RA), 9 (17%) refractory anaemia with ring sideroblast (RARS), 21 (40%) refractory anaemia with excess blasts (RAEB), 5 (9%) refractory anaemia with excess blasts in transformation (REABt) and 3 (6%) had chronic myelomonocytic leukemia (CMML). The mean age for the whole cohort was 59 years. Patients with RAEB and RAEBt were significantly younger than other FAB types with a mean age of 53.5 and 45 years respectively. Among the FAB types RAEB appeared to be over represented. Symptomatic anaemia (66% cases) was the major cause to seek medical attention. The commonest laboratory findings was anaemia; Hb < 8 g/dl in 31 (59%) patients. Only two patients had Hb > 12 g/dl at presentation. Twenty four (45%) patients had normocytic anaemia, mainly in RAEB group (61%). Macrocytosis was a dominant finding in patients with RA (53%) and RARS (53%). Bicytopenia (72%) was a more common finding than pancytopenia (8%). Bone marrow was normocellular in 32 (60%) patients and hypoplastic in 11 (21%). Dyserythropoiesis predominantly affected RA (80%), RARS (55%) and RAEB (43%) groups. Bilineage dysplasia (21%) was commoner than trilineage dysplasia (19%). Increased bone marrow fibrosis was seen in about half of the available trephines, mainly in RAEB patients. Median survival of patients was ten months with a follow up duration of 2-55 months. Four patients transformed to acute leukemia (M1 or M2) and died subsequently. However, infection was major complication and cause of death (10 cases). The preponderance of younger people to acquire the disease (especially the RAEB and RAEBt variants), the emergence of RAEB as the major group of MDS and increased prevalence of hypoplastic MDS point towards non-therapeutic genotoxin (s) in the causation of disease. Shortened survival and low rate of acute transformation points that patients did not withstand cytopenias and died earlier.
1990年1月至1996年6月期间，共诊治了53例（45例男性，8例女性）原发性骨髓增生异常综合征患者。15例（28%）患者为难治性贫血（RA），9例（17%）为环形铁粒幼细胞难治性贫血（RARS），21例（40%）为原始细胞增多的难治性贫血（RAEB），5例（9%）为转化中的原始细胞增多的难治性贫血（REABt），3例（6%）为慢性粒-单核细胞白血病（CMML）。整个队列的平均年龄为59岁。RAEB和REABt患者明显比其他FAB类型的患者年轻，平均年龄分别为53.5岁和45岁。在FAB类型中，RAEB似乎占比过高。有症状的贫血（66%的病例）是就医的主要原因。最常见的实验室检查结果是贫血；31例（59%）患者血红蛋白<8 g/dl。初诊时只有2例患者血红蛋白>12 g/dl。24例（45%）患者为正细胞性贫血，主要在RAEB组（61%）。大细胞性贫血是RA（53%）和RARS（53%）患者的主要表现。两系血细胞减少（72%）比全血细胞减少（8%）更常见。32例（60%）患者骨髓细胞正常，11例（21%）患者骨髓增生低下。红细胞生成异常主要影响RA（80%）、RARS（55%）和RAEB（43%）组。双系发育异常（21%）比三系发育异常（19%）更常见。约一半的可用骨髓活检切片可见骨髓纤维化增加，主要见于RAEB患者。患者的中位生存期为10个月，随访时间为2至55个月。4例患者转化为急性白血病（M1或M2），随后死亡。然而，感染是主要并发症和死亡原因（10例）。年轻人更容易患此病（尤其是RAEB和REABt亚型），RAEB成为骨髓增生异常综合征的主要类型以及增生低下型骨髓增生异常综合征患病率增加，提示疾病病因中存在非治疗性基因毒素。生存期缩短和急性转化率低表明患者无法耐受血细胞减少，死亡较早。
