Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Semin Oncol. 2011 Oct;38(5):621-6. doi: 10.1053/j.seminoncol.2011.04.010.
The 5q-syndrome is a subtype of myelodysplastic syndrome (MDS) with a defined clinical phenotype associated with heterozygous deletions of chromosome 5q. While no genes have been identified that undergo recurrent homozygous inactivation, functional studies have revealed individual genes that contribute to the clinical phenotype of MDS through haplo-insufficient gene expression. Heterozygous loss of the RPS14 gene on 5q leads to activation of p53 in the erythroid lineage and the macrocytic anemia characteristic of the 5q-syndrome. The megakaryocytic and platelet phenotype of the 5q-syndrome has been attributed to heterozygous deletion of miR145 and miR146a. Murine models have implicated heterozygous loss of APC, EGR1, DIAPH1, and NPM1 in the pathophysiology of del(5q) MDS. These findings indicate that the phenotype of MDS patients with deletions of chromosome 5q is due to haplo-insufficiency of multiple genes.
5q 综合征是一种骨髓增生异常综合征（MDS）亚型，具有明确的临床表型，与染色体 5q 的杂合性缺失相关。虽然尚未发现经历反复纯合性失活的基因，但功能研究已经揭示了个别基因，它们通过单倍体不足的基因表达导致 MDS 的临床表型。5q 上的 RPS14 基因的杂合性缺失导致红细胞系中 p53 的激活和 5q 综合征的巨红细胞性贫血。5q 综合征的巨核细胞和血小板表型归因于 miR145 和 miR146a 的杂合性缺失。小鼠模型表明 APC、EGR1、DIAPH1 和 NPM1 的杂合性缺失参与了 del(5q) MDS 的病理生理学。这些发现表明，染色体 5q 缺失的 MDS 患者的表型是由于多个基因的单倍体不足。
