Mashima Emi, Sawada Yu, Nakamura Motonobu
Department of Dermatology, University of Occupational and Environmental Health, 1-1, Iseigaoka, Yahatanishi-Ku, Kitakyushu, Fukuoka 807-8555, Japan.
Int J Mol Sci. 2021 Jan 20;22(3):994. doi: 10.3390/ijms22030994.
After Evans and colleagues identified the lipomatous tumor with a well-differentiated liposarcoma in a subcutaneous location or within a muscle layer, namely, atypical lipomatous tumor (ALT), this malignancy has been investigated to clarify the characteristics of clinical behavior and genomic changes. As one of the important issues for clinicians, it is a hot topic of how to distinguish ALT from benign lipoma in the clinical aspect. Recent studies revealed novel findings to clarify the risk factor for the diagnosis of ALT and molecular targets for the treatment of ALT. Clinical characteristics of superficial-type ALT well reflect the subcutaneous location of the tumor and are slightly different compared to deep-type ALT, such as tumor size. In addition, there has been a recent discovery of novel findings in ALT-related genes, namely, HMG2A (high mobility group protein 2a), YEATS4 (YEATS domain containing 4), and CPM (Carboxypeptidase M). Recent updates on treatment for advanced ALT are well developed including immunotherapy and conducting clinical trials. Finally, this review introduces one of the hot topics of ALT research focused on epigenetic changes: their attention in recent updates on clinical characteristics and the novel discovery of related genes, treatment, and epigenetic modifications in atypical lipomatous tumors.
在埃文斯及其同事在皮下部位或肌肉层中发现具有高分化脂肪肉瘤特征的脂肪瘤样肿瘤，即非典型脂肪瘤性肿瘤（ALT）之后，人们对这种恶性肿瘤进行了研究，以阐明其临床行为特征和基因组变化。作为临床医生面临的重要问题之一，如何在临床层面将ALT与良性脂肪瘤区分开来是一个热门话题。最近的研究揭示了新的发现，以阐明ALT诊断的危险因素和ALT治疗的分子靶点。浅表型ALT的临床特征很好地反映了肿瘤的皮下位置，与深部型ALT相比略有不同，如肿瘤大小。此外，最近在与ALT相关的基因方面有了新的发现，即HMG2A（高迁移率族蛋白2a）、YEATS4（含YEATS结构域4）和CPM（羧肽酶M）。晚期ALT治疗的最新进展包括免疫疗法并正在进行临床试验。最后，本综述介绍了ALT研究的一个热门话题，即表观遗传变化：它们在临床特征最新进展中的关注度以及非典型脂肪瘤性肿瘤相关基因、治疗和表观遗传修饰的新发现。
