Jo Uiree, Song Min Jeong, Jeong Ji-Seon, Song Halim, Song Joon Seon
Department of Pathology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Appl Immunohistochem Mol Morphol. 2025 Sep 1;33(5):289-294. doi: 10.1097/PAI.0000000000001275. Epub 2025 Aug 1.
Dedifferentiated liposarcoma (DDLPS) is a high-grade tumor characterized by its diverse histomorphology and development from atypical lipomatous tumor/well-differentiated liposarcoma (ALT/WDLPS). The variable morphology of DDLPS, particularly its similarity to myxoid LPS, necessitates a reliable diagnostic tool for accurate diagnosis. While DDIT3 rearrangement is a known characteristic of myxoid LPS, its amplification in DDLPS has not been extensively studied. To investigate this, we evaluated DDIT3 amplification in 29 DDLPS cases from Asan Medical Center over a 7-year period using fluorescence in situ hybridization, with immunohistochemistry for MDM2 and CDK4 performed for diagnostic confirmation. Our findings revealed DDIT3 amplification in 89.7% (26/29) of DDLPS cases, with a mean copy number of 7.4. While no significant differences in clinical characteristics or outcomes were observed between patients with and without DDIT3 amplification, patients with <4 copies of DDIT3 amplification showed a tendency toward shorter disease-free survival. These findings demonstrate the prevalence of DDIT3 amplification in DDLPS, suggesting its potential diagnostic and therapeutic significance. Additional research is necessary to fully understand the prognostic implications of DDIT3 amplification levels in DDLPS and its potential application in targeted therapies.
去分化脂肪肉瘤(DDLPS)是一种高级别肿瘤,其特征在于组织形态多样,且由非典型脂肪瘤性肿瘤/高分化脂肪肉瘤(ALT/WDLPS)发展而来。DDLPS形态各异,尤其是与黏液样脂肪肉瘤相似,因此需要一种可靠的诊断工具来进行准确诊断。虽然DDIT3重排是黏液样脂肪肉瘤的已知特征,但它在DDLPS中的扩增尚未得到广泛研究。为了对此进行调查,我们使用荧光原位杂交技术对峨山医学中心7年内的29例DDLPS病例中的DDIT3扩增情况进行了评估,并进行了MDM2和CDK4免疫组化检测以辅助诊断。我们的研究结果显示,89.7%(26/29)的DDLPS病例存在DDIT3扩增,平均拷贝数为7.4。虽然在有和没有DDIT3扩增的患者之间未观察到临床特征或预后的显著差异,但DDIT3扩增拷贝数<4的患者无病生存期有缩短趋势。这些发现表明DDIT3扩增在DDLPS中普遍存在,提示其潜在的诊断和治疗意义。需要进一步研究以充分了解DDLPS中DDIT3扩增水平的预后意义及其在靶向治疗中的潜在应用。