Marin Navarro Ana, Susanto Evelyn, Falk Anna, Wilhelm Margareta
1Department of Microbiology, Tumor and Cell biology (MTC), Karolinska Institutet, Stockholm, Sweden.
2Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden.
Cell Death Discov. 2018 Feb 1;4:7. doi: 10.1038/s41420-017-0009-2. eCollection 2018 Dec.
In vitro modeling of complex diseases is now a possibility with the use of patient-derived induced pluripotent stem (iPS) cells. Their stem cell properties, including self-renewal and their potential to virtually differentiate into any cell type, emphasize their importance as a translational tool for modeling disorders that so far have been limited by the unavailability of primary cell lines, animal models, or inaccessible human materials. Around 100 genes with germline mutations have been described to be responsible for cancer predisposition. Familial cancers are usually diagnosed earlier in life since these patients already carry the first transforming hit. Deriving iPS cells from patients suffering from familial cancers provides a valuable tool for understanding the mechanisms underlying pediatric cancer onset and progression since they require less mutation recurrence than adult cancers to develop. At the same time, some familial mutations are found in sporadic cases and are a valuable prognostic tool. Patient-derived iPS cells from germline malignancies can also create new tools in developing specific drugs with more personalized-therapy strategies.
利用患者来源的诱导多能干细胞（iPS细胞），现在有可能对复杂疾病进行体外建模。它们的干细胞特性，包括自我更新以及几乎分化为任何细胞类型的潜力，凸显了它们作为一种转化工具的重要性，可用于对迄今因原代细胞系、动物模型不可用或人类材料难以获取而受到限制的疾病进行建模。大约有100个具有种系突变的基因被描述为导致癌症易感性的原因。家族性癌症通常在生命早期被诊断出来，因为这些患者已经携带了首次转化性突变。从患有家族性癌症的患者中获取iPS细胞，为理解儿童癌症发病和进展的潜在机制提供了一个有价值的工具，因为与成人癌症相比，它们发展所需的突变复发较少。同时，一些家族性突变也在散发性病例中被发现，是一种有价值的预后工具。来自种系恶性肿瘤的患者来源的iPS细胞，还可以为开发具有更个性化治疗策略的特定药物创造新工具。
