Chang K L, O'Donnell M R, Slovak M L, Dagis A C, Arber D A, Niland J C, Forman S J
Division of Pathology, City of Hope National Medical Center, Duarte, CA 91010, USA.
Leukemia. 2002 Apr;16(4):623-31. doi: 10.1038/sj.leu.2402391.
Although myelodysplastic syndromes (MDSs) are generally thought to be diseases of elderly patients, younger patients also have rarely been diagnosed with MDS. This is a report of the clinical, morphologic and cytogenetic features of 52 cases of primary MDS occurring in adults under the age of 50 years. Cases secondary to chemotherapy or radiotherapy were excluded. There were 31 males and 21 females. The median age at presentation was 39 years (range, 18 to 49 years). The interval between onset of symptoms and diagnosis was brief (median, 4 weeks; range, 1-32 weeks). Of the 49 patients for whom information about duration of symptoms was available, 13 (27%) were asymptomatic. Forty-two (81%) of the patients were classified using FAB criteria for blood and bone marrow morphology: refractory anemia (RA), 11; refractory anemia with ringed sideroblasts (RARS), four; refractory anemia with excess blasts (RAEB), 12; chronic myelomonocytic leukemia (CMML), three; refractory anemia with excess blasts in transformation (RAEB-T), 12 patients. Ten patients could not be categorized. Abnormalities involving chromosome 7 was the most frequent cytogenetic abnormality (31%). Partial chromosomal deletion and chromosome gain were also common abnormalities (22% and 9%, respectively). Translocations accounted for only 9% of the main cytogenetic abnormalities encountered in this patient population. For the 49 patients for whom information regarding AML transformation was available, 23 (47%) progressed to acute myeloid leukemia, with an overall median time to progression of 2 months (range 3 weeks to 3 years). In each category except for RARS, approximately half of the patients progressed, with a slightly less median time to progression in RAEB-T than for the other subtypes of MDS. Thirteen patients underwent bone marrow transplantation at the time of presentation of their disease.
虽然骨髓增生异常综合征（MDS）通常被认为是老年患者的疾病，但年轻患者也很少被诊断为MDS。本文报告了50岁以下成人原发性MDS 52例的临床、形态学和细胞遗传学特征。排除化疗或放疗继发的病例。男性31例，女性21例。就诊时的中位年龄为39岁（范围18至49岁）。症状出现至诊断的间隔时间较短（中位时间4周；范围1至32周）。在49例有症状持续时间信息的患者中，13例（27%）无症状。42例（81%）患者根据FAB血液和骨髓形态学标准进行分类：难治性贫血（RA）11例；环形铁粒幼细胞性难治性贫血（RARS）4例；原始细胞增多的难治性贫血（RAEB）12例；慢性粒单核细胞白血病（CMML）3例；转化中的原始细胞增多的难治性贫血（RAEB-T）12例。10例患者无法分类。涉及7号染色体的异常是最常见的细胞遗传学异常（31%）。部分染色体缺失和染色体增加也是常见异常（分别为22%和9%）。易位仅占该患者群体中主要细胞遗传学异常的9%。在49例有急性髓系白血病转化信息的患者中，23例（47%）进展为急性髓系白血病，总体进展的中位时间为2个月（范围3周至3年）。除RARS外，每个类别中约一半的患者进展，RAEB-T进展的中位时间略短于其他MDS亚型。13例患者在疾病出现时接受了骨髓移植。
