Chung Lawrance, Lau Sean K, Jiang Zhong, Loera Sofia, Bedel Victoria, Ji Jianling, Weiss Lawrence M, Chu Peiguo G
Department of Pathology, City of Hope National Medical Center, Duarte, CA 91010, USA.
Am J Surg Pathol. 2009 Nov;33(11):1594-600. doi: 10.1097/PAS.0b013e3181accb01.
Dedifferentiated liposarcoma (DDL), occurring in up to 10% of well differentiated liposarcoma cases, has similar histologic features to that of undifferentiated high-grade pleomorphic sarcoma (UHGPS); the former develops in a background of atypical lipomatous tumors/well differentiated liposarcoma, whereas the latter shows no specific line of differentiation. The retroperitoneum and thigh represent the most common anatomic locations for both the sarcomas. Despite their morphologic similarity, the issue of whether these 2 sarcomas share overlapping immunohistochemical and molecular features has not been well studied. We examined the expression of the lipogenic tumor-related markers peroxisome proliferator-activated receptor gamma (PPAR-gamma), CDK4, and MDM2 in 15 cases of DDL and 45 cases of retroperitoneal/thigh UHGPS. Patients with DDL ranged from 31 to 82 years (mean 63 y) with a male:female ratio of 5:3. Patients with UHGPS ranged from 14 to 80 years (mean 52 y) with a male:female ratio of 3:2. All 15 DDLs expressed CDK4 and MDM2 (100%), and 8 of 15 cases expressed PPAR-gamma (53%). Twenty-three of 45 (51%) UHGPS expressed at least 1 of these 3 markers. We also studied MDM2 and CDK4 gene amplification by fluorescence in situ hybridization in 28 immunohistochemically positive cases, including 5 DDLs and 23 UHGPSs. All 5 cases of DDL showed MDM2 and/or CDK4 amplification (100%), whereas 6 of 45 UHGPSs showed MDM2 and/or CDK4 amplification (13%). Our results demonstrate that (1) the lipogenic tumor markers CDK4 and MDM2 can be used as surrogate immunohistochemical markers for the diagnosis of malignant lipomatous tumors with high sensitivity; (2) approximately 26% of retroperitoneal/thigh UHGPS cases that were positive for PPAR-gamma, CDK4, or MDM2 by immunohistochemistry showed characteristic CDK4 and MDM2 gene amplification, suggesting that a subset of UHGPS cases represent DDL despite lacking histologic evidence of lipoblasts.
去分化脂肪肉瘤(DDL)发生率高达10%的高分化脂肪肉瘤病例,其组织学特征与未分化高级别多形性肉瘤(UHGPS)相似;前者在非典型脂肪瘤性肿瘤/高分化脂肪肉瘤背景下发生,而后者无特定分化谱系。腹膜后和大腿是这两种肉瘤最常见的解剖部位。尽管它们形态相似,但这两种肉瘤是否具有重叠的免疫组化和分子特征的问题尚未得到充分研究。我们检测了15例DDL和45例腹膜后/大腿UHGPS中脂肪生成相关标志物过氧化物酶体增殖物激活受体γ(PPAR-γ)、细胞周期蛋白依赖性激酶4(CDK4)和鼠双微体2(MDM2)的表达。DDL患者年龄31至82岁(平均63岁),男女比例为5:3。UHGPS患者年龄14至80岁(平均52岁),男女比例为3:2。15例DDL均表达CDK4和MDM2(100%),15例中有8例表达PPAR-γ(53%)。45例UHGPS中有23例(51%)表达这3种标志物中的至少1种。我们还通过荧光原位杂交研究了28例免疫组化阳性病例(包括5例DDL和23例UHGPS)中MDM2和CDK4基因扩增情况。5例DDL均显示MDM2和/或CDK4扩增(100%),而45例UHGPS中有6例显示MDM2和/或CDK4扩增(13%)。我们的结果表明:(1)脂肪生成肿瘤标志物CDK4和MDM2可作为敏感性高的免疫组化替代标志物用于诊断恶性脂肪瘤性肿瘤;(2)免疫组化PPAR-γ、CDK4或MDM2阳性的腹膜后/大腿UHGPS病例中约26%显示特征性的CDK4和MDM2基因扩增,提示一部分UHGPS病例尽管缺乏脂肪母细胞的组织学证据,但代表DDL。