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首页> 外文OA文献 >'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/pleomorphic lipomatous tumor)
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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/pleomorphic lipomatous tumor)

机译：'非典型'多形性脂肪瘤：21例临床病理，免疫组化和分子研究，强调其与非典型梭形细胞脂肪瘤的关系，提示形态学谱（非典型梭形细胞/多形性脂肪瘤）

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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).
机译：直到最近，人们对具有梭形细胞特征的非典型脂肪细胞性肿瘤的研究进展不佳，最近才提出了对非典型梭形细胞脂瘤性肿瘤（ASLT）一词的分类。最近的研究提出，ASLT作为独特实体具有（至少在很大一部分情况下）特定的遗传背景，即13q14的缺失/缺失，包括RB1及其侧翼基因RCBTB2，DLEU1和ITM2B。在多形性脂肪肉瘤（PLSs）中已报道了类似的遗传畸变。这促使我们研究了一系列具有多形脂瘤样外观，但具有非典型形态特征（包括非典型梭形细胞，多形[多核]细胞，多形脂母细胞和环切不良）的21种低度脂肪细胞性肿瘤术语“非典型”多形性脂肪瘤（APLT）。本研究还包括5例PLS。我们使用多重连接依赖探针扩增来评估13q14的遗传变化。另外，对4个APLT和所有PLS进行了基于阵列的比较基因组杂交。多重连接依赖性探针扩增显示在所有APLT病例中，RB1及其侧翼基因RCBTB2持续丢失。这种遗传改变也存在于所有PLS中，表明除了形态学重叠之外，APLTs也存在遗传重叠。然而，与APLT相比，基于阵列的比较基因组杂交显示了更复杂的遗传改变，PLS具有更多的损失和收益。 APLTs在皮下组织（67％）的发生频率要比深层（筋膜下）软组织（33％）的发生频率高。中位随访期为42个月，据记录有12例APLT中有2例复发，可以长期随访。在本文中，我们还证明了APLTs与最近定义的ASLT具有明显的重叠形态学，免疫组化，遗传和临床特征，这表明它们是形成光谱的相关病变（非典型梭形细胞/多形性脂瘤性肿瘤）。

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