Brandal Petter, Micci Francesca, Bjerkehagen Bodil, Eknaes Mette, Larramendy Marcelo, Lothe Ragnhild A, Knuutila Sakari, Heim Sverre
Institute for Cancer Research, The Norwegian Radium Hospital Montebello, Oslo, Norway.
Cancer Genet Cytogenet. 2003 Oct 1;146(1):1-7. doi: 10.1016/s0165-4608(03)00122-5.
Desmoid tumors are benign neoplasms of the fibromatosis group. Data on their acquired chromosomal changes are sparse and, therefore, we wanted to ascertain what genomic losses and gains these tumors may have incurred. DNA was extracted from a total of 26 formalin-fixed, paraffin-embedded desmoid tumors followed by comparative genomic hybridization (CGH) and interphase fluorescence in situ hybridization (I-FISH) analyses. Ten of 12 informative tumors were normal by CGH; the two abnormal ones had loss of chromosome 6 and loss of 6q and gain of chromosome 20, respectively. I-FISH analyses with an alpha-satellite probe specific for chromosome 8 of 26 desmoids, including one tumor that by karyotyping had +i(8)(q10), showed no evident abnormalities. An explanation for the relatively high frequency of genomically normal tumors by CGH seen in this study may be sought in the fact that as many as 10 of the 12 informative tumors were abdominal desmoids, a subset of tumors also previously found to exhibit genomic changes only rarely. It is therefore possible that abdominal desmoids might be non-neoplastic tumors or neoplastic tumors with genetic changes too small to be discovered by CGH, whereas desmoid tumors from other locations exhibit detectable genomic changes at a significantly higher frequency.
硬纤维瘤是纤维瘤病组的良性肿瘤。关于其获得性染色体变化的数据很少，因此，我们想确定这些肿瘤可能发生了哪些基因组的缺失和增加。从总共26个福尔马林固定、石蜡包埋的硬纤维瘤中提取DNA，随后进行比较基因组杂交（CGH）和间期荧光原位杂交（I-FISH）分析。12个有信息价值的肿瘤中有10个通过CGH检测为正常；两个异常的肿瘤分别有6号染色体缺失、6q缺失和20号染色体增加。对26个硬纤维瘤用针对8号染色体的α卫星探针进行I-FISH分析，其中一个通过核型分析有+i(8)(q10)的肿瘤，未显示明显异常。本研究中通过CGH检测到的基因组正常肿瘤频率相对较高，其原因可能在于12个有信息价值的肿瘤中有多达10个是腹部硬纤维瘤，此前也发现这一肿瘤亚组很少出现基因组变化。因此，腹部硬纤维瘤有可能是非肿瘤性肿瘤或基因变化太小而无法通过CGH发现的肿瘤性肿瘤，而其他部位的硬纤维瘤出现可检测到的基因组变化的频率则明显更高。
