UO Mutagenesi e Prevenzione Oncologica, IRCCS Ospedale Policlinico San Martino, Genova, Italy; These authors equally contributed to the manuscript.
UO Ematologia, IRCCS Istituto Giannina Gaslini, Genova, Italy; These authors equally contributed to the manuscript.
Trends Mol Med. 2019 Mar;25(3):167-170. doi: 10.1016/j.molmed.2019.01.003. Epub 2019 Feb 8.
Fanconi anemia is a rare, cancer-prone disease with mutations in 22 genes. The primary defect results in altered DNA repair mechanisms that fuel a severe proinflammatory condition in the bone marrow, leading to cellular depletion of the hematopoietic system and eventually to bone marrow failure. During the past three decades, a plethora of dysfunctions have been highlighted in the Fanconi anemia phenotype, but recent research allows us to glimpse an even more complex scenario where defective lipid metabolism could have important consequences in hematopoietic stem cell differentiation.
范可尼贫血症是一种罕见的、易患癌症的疾病，由 22 个基因的突变引起。主要缺陷导致 DNA 修复机制改变，在骨髓中引发严重的促炎状态，导致造血系统细胞耗竭，最终导致骨髓衰竭。在过去的三十年中，范可尼贫血表型中的大量功能障碍已被强调，但最近的研究使我们得以一窥更复杂的情况，即脂代谢缺陷可能对造血干细胞分化有重要影响。
