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"Atypical" Pleomorphic Lipomatous Tumor: A Clinicopathologic, Immunohistochemical and Molecular Study of 21 Cases, Emphasizing its Relationship to Atypical Spindle Cell Lipomatous Tumor and Suggesting a Morphologic Spectrum (Atypical Spindle Cell/Pleomorp

“非典型”性多形性脂肪瘤:21例临床病理、免疫组织化学和分子研究,强调其与非典型梭状细胞脂肪瘤的关系,提出一种形态学谱系(非典型的梭状细胞/多形性)。

Creytens D,Mentzel T,Ferdinande L,Lecoutere E,van Gorp J,Atanesyan L,de Groot K,Savola S,Van Roy N,Van Dorpe J,Flucke U

Abstract

The classification of the until recently poorly explored group of atypical adipocytic neoplasms with spindle cell features, for which recently the term atypical spindle cell lipomatous tumor (ASLT) has been proposed, remains challenging. Recent studies have proposed ASLT as a unique entity with (in at least a significant subset of cases) a specific genetic background, namely deletions/losses of 13q14, including RB1 and its flanking genes RCBTB2, DLEU1, and ITM2B. Similar genetic aberrations have been reported in pleomorphic liposarcomas (PLSs). This prompted us to investigate a series of 21 low-grade adipocytic neoplasms with a pleomorphic lipoma-like appearance, but with atypical morphologic features (including atypical spindle cells, pleomorphic [multinucleated] cells, pleomorphic lipoblasts and poor circumscription), for which we propose the term "atypical" pleomorphic lipomatous tumor (APLT). Five cases of PLS were also included in this study. We used multiplex ligation-dependent probe amplification to evaluate genetic changes of 13q14. In addition, array-based comparative genomic hybridization was performed on 4 APLTs and all PLSs. Multiplex ligation-dependent probe amplification showed consistent loss of RB1 and its flanking gene RCBTB2 in all cases of APLT. This genetic alteration was also present in all PLSs, suggesting genetic overlap, in addition to morphologic overlap, with APLTs. However, array-based comparative genomic hybridization demonstrated more complex genetic alterations with more losses and gains in PLSs compared with APLTs. APLTs arose in the subcutis (67%) more frequently than in the deep (subfascial) soft tissues (33%). With a median follow-up of 42 months, recurrences were documented in 2 of 12 APLTs for which a long follow-up was available. Herein, we also demonstrate that APLTs share obvious overlapping morphologic, immunohistochemical, genetic and clinical characteristics with the recently defined ASLT, suggesting that they are related lesions that form a spectrum (atypical spindle cell/pleomorphic lipomatous tumor).

摘要

   近年来人们一直探索具有梭形细胞特征非典型脂肪肿瘤的分类。最近有研究提出了非典型梭形细胞脂肪瘤(ASLT)的概念,但仍有质疑。最近有研究已经提出,ASLT作为一个独特的实体(至少是个重要分支),有一个特定的遗传背景,即13q14的缺失/损失,包括RB1(视网膜母细胞瘤基因,一种抑癌基因)和它的相邻基因RCBTB2、DLEU1和ITM2B。在多形性脂肪肉瘤(PLSs)中也出现过类似的基因畸变。

  我们对21例低级别脂肪肿瘤进行了研究,其中包括具有多形性脂肪瘤样表现者;具有非典型形态特征(包括非典型性的梭形细胞,多形性[多核]细胞,多形性脂母细胞和类似细胞)者除外,后者我们称之为“非典型”的多形性脂肪瘤(APLT)的。其中5例PLS也包括在内。我们使用多重连接依赖性探针扩增来评估13q14的基因变化。另外,在4个APLTs和所有的PLSs中,用阵列比较基因杂交法进行了研究。所有的APLT中,多重连接探针扩增技术显示了RB1和它的相邻基因RCBTB2的持续损失。这一遗传变异也存在于所有的PLSs中,这表明APLT和APLTs除了基因的重叠外,还有形态上的重叠,。然而,阵列比较基因杂交法表明,与APLTs相比,PLSs基因变异更复杂,表现为基因损失和扩增更多。
      APLTs 出现在皮下组织(67%)远多于深部(筋膜下)软组织(33%)。在平均42个月的随访中,12个APLTs患者中有2个出现了复发的情况。在此,我们也证实了APLTs和最近定义的ASLT具有明显类似的形态、免疫组织化学、遗传和临床特征,这表明它们是同类的相关病变(非典型梭形细胞/多形性脂肪瘤)。 


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