Key Laboratory of Thrombosis and Hemostasis, Jiangsu Institute of Hematology, First Affiliated Hospital of Soochow University, 188 Shizi Street, Suzhou, PR China.
Acta Haematol. 2010;123(1):55-8. doi: 10.1159/000262292. Epub 2009 Dec 2.
Secondary pulmonary alveolar proteinosis (PAP) is a rare lung disease that has been reported in 13 cases of myelodysplastic syndromes (MDS). A dicentric isochromosome of deleted chromosome 20q, idic(20q-), is a newly recognized rare, but recurrent, cytogenetic anomaly that has been described in 28 cases of MDS. Recently, we encountered an interesting MDS patient with idic(20q-) and secondary PAP. At presentation, she was a 40-year-old woman with pancytopenia and dysplasia involving 2 cell lineages that were compatible with refractory cytopenia with multilineage dysplasia. A chromosome analysis of bone marrow cells using the R-banding technique revealed a karyotype of 46,XX,-20 and +a small metacentric marker chromosome. Fluorescence in situ hybridization demonstrated this marker chromosome to be idic(20q-). Three years after presentation, her disease was complicated by secondary PAP that was confirmed by chest computed tomographic scans and a thoracoscopic lung biopsy, revealing the characteristic periodic acid Schiff stain-positive materials filling the alveoli. The patient subsequently died of respiratory failure 45 months after diagnosis. To our knowledge, this is the first MDS patient with idic(20q-) and secondary PAP to be reported in the literature. Moreover, this patient is also the 29th MDS case with idic(20q-).
继发性肺泡蛋白质沉积症（PAP）是一种罕见的肺部疾病，在 13 例骨髓增生异常综合征（MDS）中有报道。20 号染色体双着丝粒等臂染色体缺失，idic（20q-），是一种新认识的罕见但反复出现的细胞遗传学异常，在 28 例 MDS 中已有描述。最近，我们遇到了一例有趣的伴有 idic（20q-）和继发性 PAP 的 MDS 患者。初诊时，她是一位 40 岁女性，表现为全血细胞减少和涉及 2 个细胞谱系的发育不良，符合难治性血细胞减少伴多系发育异常。使用 R 带技术对骨髓细胞进行染色体分析显示核型为 46，XX，-20 和一个小型着丝粒标记染色体。荧光原位杂交显示该标记染色体为 idic（20q-）。初诊 3 年后，她的疾病并发继发性 PAP，胸部计算机断层扫描和胸腔镜肺活检证实了这一点，显示特征性过碘酸雪夫染色阳性物质充满肺泡。患者随后在诊断后 45 个月因呼吸衰竭死亡。据我们所知，这是首例伴有 idic（20q-）和继发性 PAP 的 MDS 患者在文献中报道。此外，该患者也是第 29 例伴有 idic（20q-）的 MDS 病例。
