脂肪肉瘤的临床病理及分子诊断特征：27例病例研究
Clinicopathological and molecular diagnostic features of liposarcoma: A study of 27 cases.
作者信息
Zhu Yin, Chen Dong, Yu Jingjing, Wang Shuo
机构信息
Department of Pathology, Ningbo Yinzhou No.2 Hospital, Ningbo, China.
Hangzhou Cancer Institution, Hangzhou Cancer Hospital, Hangzhou, China.
出版信息
Cytojournal. 2025 Apr 1;22:40. doi: 10.25259/Cytojournal_246_2024. eCollection 2025.
OBJECTIVE
Liposarcomas are rare tumors, and it is difficult to collect cases in less densely populated areas. Therefore, we aimed to document more cases over a relatively long period to provide more data about the characteristics of liposarcomas. In this study, the clinicopathological features of liposarcomas were investigated in 27 patients.
MATERIAL AND METHODS
All cases were confirmed by diagnosis through hematoxylin and eosin staining, immunohistochemistry (IHC), and fluorescence hybridization (FISH). Combined IHC analysis was performed for murine double minute 2 (MDM2), cyclin-dependent kinase 4 (CDK4), multiple tumor suppressor 1 (P16), and Cyclin D1. FISH was performed to detect MDM2 amplification in atypical lipomatous tumor/well-differentiated liposarcoma (ALT/WDLPS) and dedifferentiated liposarcoma (DDLPS), and DNA damage inducible transcript 3 ( DDIT3) rearrangements in myxoid liposarcoma (MLPS).
RESULTS
Seven cases of liposarcoma were located in the paratesticular region (25.9%, 7/27), 12 in the retroperitoneum (44.4%, 12/27), and eight in the limbs (29.6%, 8/27). Histological analysis showed that there were 13 cases of ALT/WDLPS (48.1%, 13/27), nine cases of DDLPS (33.3%, 9/27), three cases of MLPS (11.1%, 3/27), and two cases of pleomorphic liposarcoma (7.4%, 2/27). IHC analysis revealed that 26 cases were MDM2-positive (96.3%, 26/27), 22 were CDK4-positive (81.5%, 22/27), 26 were P16-positive (96.3%, 26/27), and 27 were cyclin D1-positive (100%, 27/27). FISH analysis revealed 20 cases of MDM2 positivity (90.9%, 20/22) and one case of DDIT3 positivity (50%, 1/2). The clinical outcomes were available for 21 patients. Four patients died (4/21, 19.0%), five experienced recurrence (5/21, 23.8%), and 12 (12/21, 57.1%) survived with no other disease.
CONCLUSION
A combined IHC examination of the four indicators may be used to diagnose ALT/WDLPS and DDLPS, and FISH is recommended as an important supporting method.
目的
脂肪肉瘤是罕见肿瘤，在人口密度较低地区收集病例困难。因此，我们旨在在相对较长时期内记录更多病例，以提供更多关于脂肪肉瘤特征的数据。本研究调查了27例患者脂肪肉瘤的临床病理特征。
材料与方法
所有病例均通过苏木精-伊红染色、免疫组织化学（IHC）和荧光杂交（FISH）确诊。对鼠双微体2（MDM2）、细胞周期蛋白依赖性激酶4（CDK4）、多肿瘤抑制因子1（P16）和细胞周期蛋白D1进行联合免疫组织化学分析。对非典型脂肪瘤样肿瘤/高分化脂肪肉瘤（ALT/WDLPS）和去分化脂肪肉瘤（DDLPS）进行FISH检测MDM2扩增，对黏液样脂肪肉瘤（MLPS）进行DNA损伤诱导转录本3（DDIT3）重排检测。
结果
7例脂肪肉瘤位于睾丸旁区域（25.9%，7/27），12例位于腹膜后（44.4%，12/；27），8例位于四肢（29.6%，8/27）。组织学分析显示，有13例ALT/WDLPS（48.1%，13/27），9例DDLPS（33.3%，9/27），3例MLPS（11.1%，3/27），2例多形性脂肪肉瘤（7.4%，2/27）。免疫组织化学分析显示，26例MDM2阳性（96.3%，26/27），22例CDK4阳性（81.5%，22/27），26例P16阳性（96.3%，26/27），27例细胞周期蛋白D1阳性（100%，27/27）。FISH分析显示20例MDM2阳性（90.9%。20/22），1例DDIT3阳性（50%，1/2）。21例患者有临床结局。4例死亡（4/21，19.0%），5例复发（5/21，23.8%），12例（12/21，57.1%）存活且无其他疾病。
结论
联合检测这四项指标的免疫组织化学检查可用于诊断ALT/WDLPS和DDLPS，建议将FISH作为重要的辅助方法。
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