Rickert Christian H, Hasselblatt Martin, Jeibmann Astrid, Paulus Werner
Department of Anatomical Pathology, Royal Children's Hospital Melbourne, Parkville, Vic, Australia.
Hum Pathol. 2006 Nov;37(11):1452-7. doi: 10.1016/j.humpath.2006.05.004. Epub 2006 Jul 26.
Capillary hemangioblastomas of the central nervous system are benign tumors and occur either sporadically or as a manifestation of von Hippel-Lindau disease. A rarer cellular and a more common reticular variant can be distinguished on the basis of the abundance of the stromal cell component, with the cellular variant being significantly associated with a greater probability of recurrence. To investigate whether these subtypes differ in their cytogenetic profile, a comparative genomic hybridization analysis of 10 cellular and 10 reticular hemangioblastomas was undertaken. Comparative genomic hybridization revealed DNA copy number changes in 14 of 20 cases (8 of 10 cellular and 6 of 10 reticular hemangioblastomas). The most common changes overall were losses of chromosomes 19 (35%), 6 (30%), and 22q (15%), whereas loss of 3 and gain of 4 were encountered in one case each (5%). The cellular variant showed losses of chromosomes 6 (60%), 22q and 19 (20% each), as well as gain of 4 (10%), whereas the reticular variant presented with losses of chromosomes 19 (50%), 22q and 3 (10% each). Loss of chromosome 6 was significantly associated with the cellular subtype (P < .005), whereas loss of 19/19p was found more frequently in the reticular variant, albeit not significantly (P = .16). In conclusion, our data may point toward different genetic pathways in the pathogenesis of the 2 histologic subtypes of capillary hemangioblastoma.
中枢神经系统的毛细血管型血管母细胞瘤是良性肿瘤,可散发性发生或作为冯·希佩尔-林道病的一种表现。根据基质细胞成分的丰富程度,可以区分出一种较罕见的细胞型和一种较常见的网状型,细胞型与更高的复发概率显著相关。为了研究这些亚型在细胞遗传学特征上是否存在差异,对10例细胞型和10例网状型血管母细胞瘤进行了比较基因组杂交分析。比较基因组杂交显示,20例中有14例(10例细胞型血管母细胞瘤中的8例和10例网状型血管母细胞瘤中的6例)存在DNA拷贝数变化。总体上最常见的变化是19号染色体缺失(35%)、6号染色体缺失(30%)和22q缺失(15%),而3号染色体缺失和4号染色体增加各有1例(5%)。细胞型表现为6号染色体缺失(60%)、22q和19号染色体缺失(各20%)以及4号染色体增加(10%),而网状型表现为19号染色体缺失(50%)、22q和3号染色体缺失(各10%)。6号染色体缺失与细胞型显著相关(P <.005),而19/19p缺失在网状型中更常见,尽管差异不显著(P = 0.16)。总之,我们的数据可能表明毛细血管型血管母细胞瘤的两种组织学亚型在发病机制中存在不同的遗传途径。