Fuchs Ota
Institute of Hematology and Blood Transfusion, U Nemocnice 1, 128 20 Prague 2, Czech Republic ; Center of Experimental Hematology, First Medical Faculty, Charles University, Institute of Pathological Physiology, 128 53 Prague 2, Czech Republic.
Leuk Res Treatment. 2012;2012:179402. doi: 10.1155/2012/179402. Epub 2012 Feb 13.
Myelodysplastic syndrome (MDS) with interstitial deletion of a segment of the long arm of chromosome 5q [del(5q)] is characterized by bone marrow erythroid hyperplasia, atypical megakaryocytes, thrombocythemia, refractory anemia, and low risk of progression to acute myeloid leukemia (AML) compared with other types of MDS. The long arm of chromosome 5 contains two distinct commonly deleted regions (CDRs). The more distal CDR lies in 5q33.1 and contains 40 protein-coding genes and genes coding microRNAs (miR-143, miR-145). In 5q-syndrome one allele is deleted that accounts for haploinsufficiency of these genes. The mechanism of erythroid failure appears to involve the decreased expression of the ribosomal protein S14 (RPS14) gene and the upregulation of the p53 pathway by ribosomal stress. Friend leukemia virus integration 1 (Fli1) is one of the target genes of miR145. Increased Fli1 expression enables effective megakaryopoiesis in 5q-syndrome.
5q染色体长臂片段间质性缺失的骨髓增生异常综合征（MDS）[del(5q)]的特征为骨髓红系增生、非典型巨核细胞、血小板增多、难治性贫血，与其他类型的MDS相比，进展为急性髓系白血病（AML）的风险较低。5号染色体长臂包含两个不同的常见缺失区域（CDR）。更远端的CDR位于5q33.1，包含40个蛋白质编码基因和编码微小RNA（miR-143、miR-145）的基因。在5q综合征中，一个等位基因缺失，导致这些基因单倍体不足。红系衰竭的机制似乎涉及核糖体蛋白S14（RPS14）基因表达降低以及核糖体应激导致p53通路上调。Friend白血病病毒整合1（Fli1）是miR145的靶基因之一。Fli1表达增加可使5q综合征中的巨核细胞生成有效进行。
