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Pigmented (melanotic) myoepithelial tumor of soft tissue with EWSR1-KLF17 fusion.
Cancer Genetics ( IF 1.9 ) Pub Date : 2020-08-12 , DOI: 10.1016/j.cancergen.2020.08.001
Jože Pižem 1 , Emanuela Boštjančič 1 , Daja Šekoranja 1 , Jerica Pleško 1 , Katarina Živec 2
Affiliation  

Myoepithelial tumors of soft tissue are rare, morphologically and biologically heterogeneous tumors. EWSR1 fusion is found in about half of the cases, followed by PLAG1 and FUS fusions. EWSR1-KLF17 fusion has so far been reported in one benign myoepithelial tumor. Using next generation sequencing we identified another myoepithelial tumor of soft tissue with EWSR1-KLF17 fusion, located on the foot in a 55-year-old male. It was composed predominantly of spindle cells with multiple small areas of epithelioid and multinucleated cells in myxohyaline stroma and areas of melanin pigment in the cytoplasm of tumor cells. The pigmented tumor cells were positive for HMB45 and, ultrastructurally, melanosomes were identified in their cytoplasm. Melanin production has not been previously documented in myoepithelial tumors of soft tissue. Our case extends the spectrum of myoepithelial tumors of soft tissue and emphasizes the importance of molecular characterization of fusions, including determination of fusion partners in myoepithelial tumors and their mimics.



中文翻译:

EWSR1-KLF17融合的软组织的色素沉着(黑色素化)肌上皮肿瘤。

软组织的肌上皮肿瘤是罕见的,形态和生物学上异质的肿瘤。在大约一半的案例中发现了EWSR1融合,其次是PLAG1FUS融合。迄今为止,在一种良性肌上皮肿瘤中已报道了EWSR1-KLF17融合。使用下一代测序,我们用EWSR1-KLF17鉴定了另一个软组织肌上皮肿瘤融合,位于一名55岁男性的脚上。它主要由纺锤形细胞组成,在黏膜透明质酸基质中有多个小面积的上皮样和多核细胞,在肿瘤细胞的细胞质中含有黑色素色素区域。色素沉着的肿瘤细胞对HMB45呈阳性,并且在超微结构中,在其细胞质中发现了黑素体。以前尚未在软组织的肌上皮肿瘤中记录黑色素的产生。我们的案例扩大了软组织的肌上皮肿瘤的范围,并强调了融合分子表征的重要性,包括确定肌上皮肿瘤及其模拟物中的融合伴侣。

更新日期:2020-08-12
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