PDF(Pubmed)
Abstract：
Myelodysplastic syndrome (MDS) is characterized by failure to initiate hematopoiesis or impaired maturation of cells, often presenting with pancytopenias with or without associated fatigue, infections, or inappropriate bleeding and bruising. Karyotype analyses of MDS patients commonly show deletion of the q arm of chromosome 7, suggesting loss of this region is likely implicated in the insufficient hematopoiesis seen in MDS. The predisposition to deletion of 7q is commonly inherited, with clinical presentation in early childhood associated with pancytopenia or hematological malignancy. In this case, we present a 66-year-old female who was incidentally found to be pancytopenic in the emergency department while being evaluated for dyspnea, with a bone marrow biopsy later confirming a diagnosis of MDS with monosomy 7. Sporadic loss of 7q can occur at any stage in life without any family history of hematological disease. Our patient has no known personal or family history of MDS, with normal blood counts during hospitalization three years prior, suggesting de novo loss of 7q occurring at greater than 60 years of age.
摘要：
骨髓增生异常综合征（MDS）的特征是无法启动造血或细胞成熟受损，经常表现为伴有或不伴有疲劳的全细胞缺乏症，感染,或者不适当的出血和瘀伤.MDS患者的核型分析通常显示7号染色体q臂的缺失，表明该区域的丢失可能与MDS中的造血功能不足有关。删除7q的倾向通常是遗传的，在儿童早期的临床表现与全血细胞减少症或血液系统恶性肿瘤相关。在这种情况下,我们介绍了一名66岁的女性，她在急诊科接受呼吸困难评估时偶然发现患有全血细胞减少症，随后进行骨髓活检，确认诊断为具有7号单体的MDS。7q的散发性损失可以发生在生命的任何阶段，而没有任何血液病家族史。我们的患者没有已知的MDS的个人或家族史，在三年前住院期间血细胞计数正常，表明7q的从头损失发生在60岁以上。
