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Dedifferentiated Liposarcoma With Epithelioid/Epithelial Features.

具有上皮样或上皮特征的去分化脂肪肉瘤

Makise N,Yoshida A,Komiyama M,Nakatani F,Yonemori K,Kawai A,Fukayama M,Hiraoka N

Abstract

Dedifferentiated liposarcoma (DDLPS) demonstrates a variety of growth patterns, and their histologic resemblance to other spindle cell mesenchymal tumors has been widely recognized. However, epithelioid morphology in DDLPS has only rarely been documented. Here, we report 6 cases of DDLPS with striking epithelioid/epithelial features. The patients were 5 men and 1 woman with a median age of 61 years. All tumors were located in the internal trunk. During follow-up of 1 to 41 months, local recurrence, distant metastases, and tumor-related death occurred in 4, 2, and 4 patients, respectively. Beside well-differentiated liposarcoma component and conventional high-grade spindle cell morphology, all tumors focally exhibited growth comprising small or large epithelioid cells in diffuse or sheet-like proliferation. Rhabdoid cells were present in 2 cases. All 5 tumors tested harbored MDM2 amplification. Cytokeratin and/or epithelial membrane antigen were at least focally positive in all 5 tumors tested. One case contained a small focus of novel heterologous epithelial differentiation with acinar structures, wherein cytokeratin, MOC31, and claudin-4 were diffusely expressed and H3K27me3 expression was lost. DDLPS with epithelioid/epithelial features may lead to misdiagnosis of carcinoma or mesothelioma, and their diagnosis should be based on correlation with clinicopathologic and molecular findings. The epithelioid morphology in DDLPS may suggest an aggressive behavior based on this small series. In addition, we document 2 cases of MDM2-amplified undifferentiated neoplasm with epithelioid features in the internal trunk that lacked association with well-differentiated liposarcoma histology and showed rapid clinical course. Whether these latter tumors belong to DDLPS with epithelioid features requires further study.

摘要

去分化脂肪肉瘤表现为多种多样的生长方式,其向多种梭形细胞间叶源性肿瘤方向分化已被广泛认可,但具有上皮样形态的去分化脂肪肉瘤却很少被报道。本文报道6例具有显著上皮样特征的去分化脂肪肉瘤。患者男性5例,女性1例,中位年龄61岁。肿瘤均位于躯干部。随访1-41个月,局部复发、远处转移及肿瘤相关死亡分别为4例、2例及4例。与高分化脂肪肉瘤成分和传统的高级别梭形细胞细胞形态不同,所有的肿瘤局灶性地表现为弥漫或片状生长的小的或大的上皮样细胞。2例存在横纹肌样细胞。5例均检测到MDM2基因扩增,CK和EMA均至少局灶阳性。其中1例局灶呈腺泡状异源性上皮样分化,弥漫性表达CK、MOC31和claudin-4且H3K27me3表达缺失。具有上皮样特征的去分化脂肪肉瘤易误诊为癌或间皮瘤,需根据临床病理和分子检测进行诊断。去分化脂肪肉瘤中具有上皮样形态特征的区域可能提示具有侵袭性的生物学行为。另外,我们研究了2例发生于躯干部、具有上皮样特征和MDM2基因扩增的未分化肿瘤,其缺乏与高分化脂肪肉瘤相关的组织学特征,结果显示其具有快速的临床经过。后者是否属于具有上皮样特征的去分化脂肪肉瘤仍需进一步研究。

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