Hennig Y, Deichert U, Stern C, Ghassemi A, Thode B, Bonk U, Meister P, Bartnitzke S, Bullerdiek J
Center of Human Genetics and Genetic Counselling, University of Bremen, Germany.
Cancer Genet Cytogenet. 1996 Apr;87(2):148-51. doi: 10.1016/0165-4608(95)00311-8.
Clonal karyotypic alterations of chromosome 6 in three uterine smooth muscle tumors are reported. In all cases an apparently identical breakpoint on the short arm of chromosome 6 was found. Two cases displayed the histologic features of cell-rich myomas with severe nuclear atypia but no clear evidence for malignancy. The remaining case was a primary uterine leiomyosarcoma of an 80-year-old patient showing an apparently balanced reciprocal chromosomal translocation, t(1;6)(p32-33;p21.3), as the sole karyotypic abnormality. This type of aberration has not been reported before in leiomyosarcomas. Because of the nuclear atypia in the other myomas with a breakpoint involving the short arm of chromosome 6 we feel that this cytogenetically recognizable but rare subgroup of uterine smooth muscle tumors warrants a careful clinical follow-up.
报告了三例子宫平滑肌瘤中6号染色体的克隆性核型改变。在所有病例中，均在6号染色体短臂上发现了一个明显相同的断点。两例表现为细胞丰富型肌瘤的组织学特征，伴有严重核异型性，但无明确恶性证据。其余一例为一名80岁患者的原发性子宫平滑肌肉瘤，显示出明显平衡的相互染色体易位t(1;6)(p32 - 33;p21.3)，这是唯一的核型异常。这种类型的畸变以前在平滑肌肉瘤中尚未见报道。由于其他具有涉及6号染色体短臂断点的肌瘤存在核异型性，我们认为这种细胞遗传学上可识别但罕见的子宫平滑肌瘤亚组值得仔细的临床随访。
