Munier F L, Thonney F, Balmer A, Uffer S, Héon E, Van Melle G, Rutz H P, Pescia G, Schorderet D F
Hôpital Ophtalmique Jules Gonin, Lausanne, Switzerland.
Ophthalmic Genet. 1997 Mar;18(1):7-12. doi: 10.3109/13816819709057878.
The nature of the tumorigenic mutation was analyzed in 30 retinoblastoma (Rb) tumors (16 non-hereditary and 14 hereditary) and categorized into loss of heterozygosity (LOH) or retention of heterozygosity (non-LOH) at the RB1 locus. These genotypic characteristics were compared with the clinicopathological phenotype for possible correlation. The overall frequency of LOH was roughly 55%, in both hereditary and non-hereditary Rb. The presence of LOH was preferentially associated with differentiated tumors and absence of choroidal invasion. LOH was found in 82% of females versus 33% of males. Finally, LOH-initiated tumors were associated with a significantly younger age at diagnosis in hereditary Rb. In conclusion, the preferential association of LOH with absence of choroidal invasion, tumoral differentiation, and younger age at diagnosis may establish LOH as a prognostic marker in Rb patients.
对30例视网膜母细胞瘤（Rb）肿瘤（16例非遗传性和14例遗传性）的致瘤性突变性质进行了分析，并在RB1基因座上分为杂合性缺失（LOH）或杂合性保留（非LOH）。将这些基因型特征与临床病理表型进行比较以寻找可能的相关性。在遗传性和非遗传性Rb中，LOH的总体频率约为55%。LOH的存在优先与分化型肿瘤和脉络膜侵犯缺失相关。在82%的女性中发现了LOH，而男性中这一比例为33%。最后，在遗传性Rb中，由LOH引发的肿瘤在诊断时的年龄显著更小。总之，LOH与脉络膜侵犯缺失、肿瘤分化以及诊断时年龄较小的优先相关性可能使LOH成为Rb患者的预后标志物。
