Xing Y P, Powell W L, Morton C C
Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA.
Cancer Genet Cytogenet. 1997 Oct 1;98(1):69-74. doi: 10.1016/s0165-4608(96)00406-2.
Rearrangement of 7q represents one of the major cytogenetic subgroups in uterine leiomyomata, the most common tumors arising in females. Herein we report cytogenetic analysis on a series of 22 cases of uterine leiomyomata with 7q abnormalities, and describe observations regarding tumor size and maintenance of the tumor cells in culture. We discuss the frequent finding of mosaic tumors containing both cells with the 7q rearrangement and karyotypically normal cells. Clonality studies of three mosaic cases reveal nonrandom X chromosome inactivation substantiating prior findings suggesting the secondary nature of chromosome aberrations in these tumors. Genes mapped in 7q22 and those identified in the pathobiology of other uterine leiomyomata subgroups are discussed in addition to a perspective on the role of the 7q22 leiomyomata gene.
7q重排是子宫平滑肌瘤主要的细胞遗传学亚组之一，子宫平滑肌瘤是女性最常见的肿瘤。在此，我们报告了对一系列22例伴有7q异常的子宫平滑肌瘤的细胞遗传学分析，并描述了关于肿瘤大小及肿瘤细胞在培养中的维持情况的观察结果。我们讨论了常见的镶嵌性肿瘤，其包含具有7q重排的细胞和核型正常的细胞。对三例镶嵌性病例的克隆性研究揭示了非随机的X染色体失活，证实了先前的发现，提示这些肿瘤中染色体畸变的继发性。除了对7q22平滑肌瘤基因的作用进行展望外，还讨论了定位于7q22的基因以及在其他子宫平滑肌瘤亚组病理生物学中鉴定出的基因。
