Abstract：
Leiomyosarcoma with adipocytic differentiation or lipoleiomyosarcoma is an uncommon sarcoma of the female genital tract with only a few individual reports in the literature. We therefore performed a morphologic, immunohistochemical, MDM2 gene amplification and RNA and DNA sequencing analysis of a series of gynecologic lipoleiomyosarcoma to better define the clinicopathologic spectrum. Six tumors from 6 patients were identified and classified as spindled lipoleiomyosarcoma (n = 2), mixed spindled and myxoid lipoleiomyosarcoma (n = 1), epithelioid lipoleiomyosarcoma with focal myxoid features (n = 1) and mixed spindled and epithelioid lipoleiomyosarcoma (n = 2). Patient age ranged from 41 to 64 years (mean: 49; median: 50). Primary location included uterine corpus (3), uterine corpus/cervix (2) and broad ligament (1). Tumor size ranged from 4.5 to 22 cm (mean: 11.2; median: 9.8). Four patients had metastasis at presentation or subsequently developed recurrent or distant disease. Patient status was known for 5: 2 dead of disease, 2 alive with disease and 1 alive without evidence of disease. Immunohistochemical expression of smooth muscle markers, ER, PR and WT-1 showed patterns similar to non-adipocytic gynecologic leiomyosarcomas. MDM2 amplification fluorescence in situ hybridization performed on 2 tumors was negative in 1 and equivocal in 1. Sequencing studies performed on 3 tumors found TP53 mutations in 3, with 1 tumor also having an ATRX alteration. No gene fusions were identified. Although lipoleiomyosarcomas have a diverse morphologic spectrum, our findings suggest the smooth muscle component shares morphologic and immunohistochemical features with female genital tract non-adipocytic leiomyosarcomas. Lipoleiomyosarcomas also have genetic alterations associated with non-adipocytic gynecologic leiomyosarcomas.
摘要：
脂肪细胞分化的平滑肌肉瘤或脂平滑肌肉瘤是一种罕见的女性生殖道肉瘤，文献中只有少数报道。因此，我们进行了形态学，免疫组织化学，对一系列妇科脂肪平滑肌肉瘤进行MDM2基因扩增和RNA和DNA测序分析，以更好地定义临床病理谱。来自6例患者的6个肿瘤被鉴定并分类为纺锤状脂平滑肌肉瘤（n=2），混合梭状和粘液样脂平滑肌肉瘤（n=1），上皮样平滑肌肉瘤（n=1）和混合纺锤形和上皮样平滑肌肉瘤（n=2）。患者年龄为41至64岁（平均：49；中位数：50）。主要位置包括子宫体（3），子宫体/子宫颈（2）和阔韧带（1）。肿瘤大小为4.5至22cm（平均：11.2；中位数：9.8）。四名患者在就诊时发生转移或随后发展为复发性或远处疾病。已知患者状态为5：2死亡，2例活着有疾病，1例活着没有疾病证据。平滑肌标记的免疫组织化学表达，ER,PR和WT-1显示与非脂肪细胞妇科平滑肌肉瘤相似的模式。对2个肿瘤进行的MDM2扩增荧光原位杂交在1个中为阴性，在1个中为模棱两可。对3个肿瘤进行的测序研究发现3个肿瘤中的TP53突变,其中1个肿瘤也具有ATRX改变。没有发现基因融合。尽管脂肪平滑肌肉瘤具有不同的形态谱，我们的发现提示平滑肌成分与女性生殖道非脂肪细胞平滑肌肉瘤具有相同的形态学和免疫组织化学特征.脂肪平滑肌肉瘤也具有与非脂肪细胞妇科平滑肌肉瘤相关的遗传改变。
