Kraus J A, Koch A, Albrecht S, Von Deimling A, Wiestler O D, Pietsch T
Department of Neuropathology, University of Bonn Medical Center, Germany.
Int J Cancer. 1996 Jul 3;67(1):11-5. doi: 10.1002/(SICI)1097-0215(19960703)67:1<11::AID-IJC3>3.0.CO;2-2.
Medulloblastoma is a primitive neuroectodermal tumor of the cerebellum with poorly understood pathogenesis. Previous studies have reported loss of heterozygosity (LOH) on chromosome arms 17p, 11p and 9q and cytogenetic abnormalities of chromosome 1 in medulloblastoma. We have used the polymerase chain reaction to amplify 10 microsatellites on the short arm and 8 microsatellites on the long arm of chromosome 1 to assess allelic loss in 22 medulloblastomas. Loss of heterozygosity (LOH) on chromosome 1 was found in 9 cases. Eight medulloblastomas (36%) showed an interstitial LOH on chromosome 1q. The common region of overlap was mapped between D1S 1604 and D1S237 and included the locus F13B in the chromosomal region 1q31-q32.1. An additional tumor had LOH in a proximal region of 1p, but did not exhibit LOH on 1q. None of the medulloblastomas exhibited LOH of the telomeric portion of chromosome 1p, which has been associated with several other human malignancies. Our data suggest the presence of a putative tumor suppressor gene located near the locus F13B on chromosome arm 1q that appears to be involved in the pathogenesis of medulloblastoma.
髓母细胞瘤是一种小脑的原始神经外胚层肿瘤,其发病机制尚不清楚。先前的研究报道了髓母细胞瘤中17p、11p和9q染色体臂的杂合性缺失(LOH)以及1号染色体的细胞遗传学异常。我们使用聚合酶链反应扩增1号染色体短臂上的10个微卫星和长臂上的8个微卫星,以评估22例髓母细胞瘤中的等位基因缺失情况。在9例中发现了1号染色体的杂合性缺失(LOH)。8例髓母细胞瘤(36%)显示1号染色体q臂存在间质性LOH。重叠的共同区域定位于D1S 1604和D1S237之间,包括染色体区域1q31-q32.1中的F13B基因座。另一例肿瘤在1号染色体p臂的近端区域存在LOH,但在1号染色体q臂上未表现出LOH。没有一例髓母细胞瘤表现出1号染色体p臂端粒部分的LOH,而这与其他几种人类恶性肿瘤有关。我们的数据表明,在1号染色体q臂上靠近F13B基因座处存在一个假定的肿瘤抑制基因,它似乎参与了髓母细胞瘤的发病机制。