Vasef M A, Murata-Collins J L, Alsabeh R, Medeiros L J
Division of Pathology, City of Hope National Medical Center, Duarte, Calif 91010, USA.
Arch Pathol Lab Med. 1998 Jan;122(1):77-83.
To describe the pathologic features of two cases of myelodysplastic syndrome associated with trisomy 14 and to summarize the relevant literature.
In both cases, trisomy 14 was identified using conventional cytogenetic and fluorescence in situ hybridization methods. The patients were elderly men, 70 and 77 years old, who presented with anemia and thrombocytopenia. According to the French-American-British classification, case 1 was classified as refractory anemia with ringed sideroblasts, and case 2 was classified as chronic myelomonocytic leukemia. In both cases, the aspirate smears revealed obvious abnormalities in erythroid and megakaryocytic maturation, with more subtle abnormalities in myeloid maturation. The biopsy sections were hypercellular, and there was marked myeloid hyperplasia in case 2. Both patients received only supportive therapy after the diagnosis was established. Clinical follow-up was available for both patients. The patient in case 1 died 67 months after disease onset of an unrelated illness, and the patient in case 2 was alive at last follow-up, 12 months after diagnosis.
Thirty-five cases of trisomy 14 have been previously reported in the literature, predominantly in cytogenetics journals, and the description of the pathologic findings for the majority of these cases is limited or not provided. According to published data, the majority of these cases are myelodysplastic syndromes or acute myeloid leukemias associated with myelodysplasia.
The detection of trisomy 14 in the bone marrow strongly correlates with the presence of a myelodysplastic syndrome. The two cases of myelodysplastic syndrome associated with trisomy 14 we describe here did not exhibit characteristic morphologic findings that might suggest the presence of the cytogenetic abnormality.
描述两例与14号染色体三体相关的骨髓增生异常综合征的病理特征并总结相关文献。
两例均采用传统细胞遗传学和荧光原位杂交方法鉴定出14号染色体三体。患者为老年男性，分别为70岁和77岁，均表现为贫血和血小板减少。根据法美英分类法，病例1被分类为伴有环形铁粒幼细胞的难治性贫血，病例2被分类为慢性粒单核细胞白血病。两例病例的骨髓穿刺涂片均显示红系和巨核系成熟存在明显异常，而髓系成熟异常较细微。活检切片细胞增多，病例2有明显的髓系增生。确诊后两名患者均仅接受了支持性治疗。两名患者均有临床随访资料。病例1的患者在疾病发作67个月后死于无关疾病，病例2的患者在最后一次随访时存活，确诊后12个月。
此前文献中已报道35例14号染色体三体病例，主要发表于细胞遗传学杂志，大多数病例的病理结果描述有限或未提供。根据已发表的数据，这些病例大多数为骨髓增生异常综合征或与骨髓发育异常相关的急性髓系白血病。
骨髓中检测到14号染色体三体与骨髓增生异常综合征的存在密切相关。我们在此描述的两例与14号染色体三体相关的骨髓增生异常综合征未表现出可能提示细胞遗传学异常存在的特征性形态学表现。
