Saakyan S V, Khoroshilova-Maslova I P, Tsygankov А Yu, Amiryan А G, Isaeva R Т
Helmholz Moscow Research Institute of Eye Diseases, Ministry of Health of Russia, Moscow
A.I. Evdokimov Moscow State University of Medicine and Dentistry, Ministry of Health of Russia, Moscow.
Arkh Patol. 2016 Jul-Aug;78(4):20-26. doi: 10.17116/patol201678420-26.
to analyze the association of extrabulbar tumor growth with pathological and molecular genetic changes in patients with uveal melanoma (UM).
A total of 134 UM patients aged 22 to 84 years were examined and treated. The mean height of the tumor was 9.2±2.9 mm; the diameter of its base was 15.3±3.5 mm. Enucleation of the affected eye was performed in 97.8% of cases. Spindle-cell (n=61 (45.6%)), mixed cell (n=46 (34.3%)), and epithelioid cell (n=27 (20.1%)) tumors were identified according to their histological structure. Polymerase chain reaction-restriction fragment length polymorphism analysis was used to determine full and partial monosomy of chromosome 3, deletion of the short arm of chromosome 1, and RASSF1A gene methylation (n=134). The patients were divided into two groups: 1) those with extrabulbar growth (EG) (n=12) and 2) those without EG (n=122).
There was a topographic association between the tumor invasion zone and the largest area of exit of the scleral vessels, along which the tumor invaded: the anterior and posterior segments of the eyeball. The specific features of the invasion pattern of UM were shown: there was its broader invasion in the posterior segment and thinner growing tissue interlayers in the anterior segment. Two UM types stopping the process of UM invasion through the scleral fibrous tunic of the eye were established: 1) that with nodule formation and 2) that with tumor cell dissemination within the episclera. The cellular composition of growing tumor tissue in the episclera was ascertained to differ from the main UM focus in the choroid towards its more atypization. The rate was shown to be significantly lower (20% versus 47.9% for the relatively favorable spindle cell type of UM) in the EG group. The frequency of full or partial chromosome 3 monosomy was significantly higher in the extrabulbar tumor growth group (80% versus 50.4%).
The morphological features of the EG of UM were defined. The use of a statistically significant sample of patients with UM confirmed the favorable course of the tumor in its spindle cell type and the negative role of chromosome 3 monosomy, as well as the relationship to extrabulbar tumor growth.
分析葡萄膜黑色素瘤（UM）患者球外肿瘤生长与病理及分子遗传学改变之间的关联。
共检查并治疗了134例年龄在22至84岁之间的UM患者。肿瘤平均高度为9.2±2.9毫米；肿瘤基底直径为15.3±3.5毫米。97.8%的病例进行了患眼眼球摘除术。根据组织学结构确定为梭形细胞肿瘤（n = 61例（45.6%））、混合细胞肿瘤（n = 46例（34.3%））和上皮样细胞肿瘤（n = 27例（20.1%））。采用聚合酶链反应-限制性片段长度多态性分析来确定3号染色体的完全和部分单体性、1号染色体短臂缺失以及RASSF1A基因甲基化情况（n = 134）。患者被分为两组：1）有球外生长（EG）的患者（n = 12）和2）无EG的患者（n = 122）。
肿瘤侵袭区域与巩膜血管最大出口区域之间存在地形学关联，肿瘤沿此区域侵袭：眼球的前段和后段。显示了UM侵袭模式的特定特征：其在后段的侵袭范围更广，而在前段生长组织层更薄。确定了两种通过眼球巩膜纤维膜阻止UM侵袭过程的UM类型：1）形成结节的类型和2）肿瘤细胞在巩膜上播散的类型。已确定巩膜中生长的肿瘤组织的细胞组成与脉络膜中主要的UM病灶相比，其异型性更高。EG组的发生率显著更低（相对良性的梭形细胞型UM为20%，而47.9%）。球外肿瘤生长组中3号染色体完全或部分单体性的频率显著更高（80%对50.4%）。
明确了UM的EG的形态学特征。使用具有统计学意义的UM患者样本证实了肿瘤在梭形细胞型中的良性病程以及3号染色体单体性的负面作用，以及与球外肿瘤生长的关系。
