Koczkowska Magdalena, Lipska Beata S, Grzeszewska Joanna, Limon Janusz, Biernat Wojciech, Jassem Jacek
Department of Biology and Genetics, Medical University of Gdansk, Poland.
Pol J Pathol. 2013 Apr;64(1):59-63. doi: 10.5114/pjp.2013.34605.
Mesenteric leiomyosarcoma (LMS) is a very rare malignancy whose familiar occurrence has not yet been reported. We present two sisters who developed intestinal LMS. Pathological analysis of the tumor samples, including evaluation of smooth muscle actin+, desmin+, Myf4-, DOG-1-, S100-, CD34- and CD117- confirmed LMS diagnosis. Molecular analysis of the lesions, both primary tumors and a liver metastasis, revealed several genomic imbalances, with recurrent chromosomal aberration: interstitial gain at chromosome 17p11.2-13.1 with the minimal overlapping region of 9.2 Mb. Our study provides further evidence for the significant role of the genes located in this region in the early stage of carcinogenesis.
肠系膜平滑肌肉瘤（LMS）是一种非常罕见的恶性肿瘤，尚未有家族性发病的报道。我们报告了两姐妹患肠道LMS的病例。对肿瘤样本进行病理分析，包括评估平滑肌肌动蛋白阳性、结蛋白阳性、肌原调节蛋白4阴性、双重锌指蛋白1阴性、S100蛋白阴性、CD34阴性和CD117阴性，确诊为LMS。对原发性肿瘤和肝转移灶进行分子分析，发现了几个基因组失衡，存在复发性染色体畸变：17号染色体p11.2-13.1区域的间质增益，最小重叠区域为9.2 Mb。我们的研究进一步证明了位于该区域的基因在致癌早期阶段的重要作用。
