Alonso-Dominguez J M, Calbacho M, Talavera M, Villalon C, Abalo L, Garcia-Gutierrez J V, Lozano S, Tenorio M, Villarrubia J, Lopez-Jimenez J, Ferro M T
Servicio de Hematología, Hospital Ramón y Cajal, Carretera de Colmenar Km 9, 100 28049 Madrid, Spain.
Case Rep Hematol. 2012;2012:428279. doi: 10.1155/2012/428279. Epub 2012 Jun 3.
Histiocytic sarcoma (HS) is a neoplasm derived from histiocytes. Its diagnosis was not clear until its immunohistochemistry profile was correctly established. Not much is known about its genetic properties. We report a case of a 48-year-old male patient whose bone marrow was almost completely occupied by monomorphic medium size neoplastic cellularity. Its immunohistochemical profile was CD68(+), CD4(+), CD45(+) with negativity of other dendritic cells, and other lineage markers. Cytogenetic study showed 4 related clones: one with trisomy 8 and extra material on the short arms of chromosome 4; a second line with tetrasomy of chromosome 8, add(4)(p16); the third clone had the same alterations as the previous and deletion of chromosome 3 at q11; the fourth line had tetrasomy 8 and translocation t(3;5)(q25;q35). To our knowledge this is the first HS case showing chromosome 8 trisomy and tetrasomy and the other described alterations.
组织细胞肉瘤(HS)是一种源自组织细胞的肿瘤。在其免疫组化特征被正确确立之前,其诊断并不明确。关于其遗传学特性知之甚少。我们报告一例48岁男性患者,其骨髓几乎完全被单形性中等大小的肿瘤细胞占据。其免疫组化特征为CD68(+)、CD4(+)、CD45(+),其他树突状细胞及其他谱系标志物为阴性。细胞遗传学研究显示4个相关克隆:一个克隆有8号染色体三体及4号染色体短臂额外物质;第二个克隆系8号染色体四体,add(4)(p16);第三个克隆具有与前一个相同的改变及3号染色体q11缺失;第四个克隆系8号染色体四体及t(3;5)(q25;q35)易位。据我们所知,这是首例显示8号染色体三体和四体以及其他所述改变的HS病例。