Dangel A, Meloni A M, Lynch H T, Sandberg A A
Cancer Center, Southwest Biomedical Research Institute, Scottsdale, Arizona.
Cancer Genet Cytogenet. 1994 Nov;78(1):94-8. doi: 10.1016/0165-4608(94)90053-1.
Desmoid tumors are associated with as many as 20% of cases of familial adenomatous polyposis (FAP) and Gardner's syndrome. In the present study, four specimens from different regions of a massive intraabdominal desmoid tumor from a 23-year-old white male with Gardner's syndrome were analyzed cytogenetically. Two different clonal abnormalities were observed. Two of the four specimens analyzed showed a del(5)(q14q31), which involves the region q21-->22 where the familial adenomatous polyposis gene is localized. In the two other specimens, a balanced translocation involving chromosomes 3 and 4 and an inv(4) was detected. Our findings confirm previous reports about the importance of chromosome defects on 5q in development of desmoid tumors, particularly in patients with Gardner's syndrome.
硬纤维瘤与多达20%的家族性腺瘤性息肉病（FAP）和加德纳综合征病例相关。在本研究中，对一名患有加德纳综合征的23岁白人男性的巨大腹腔内硬纤维瘤不同区域的四个标本进行了细胞遗传学分析。观察到两种不同的克隆异常。分析的四个标本中有两个显示del(5)(q14q31)，该异常涉及家族性腺瘤性息肉病基因所在的q21→22区域。在另外两个标本中，检测到涉及3号和4号染色体的平衡易位以及inv(4)。我们的研究结果证实了先前关于5号染色体缺陷在硬纤维瘤发生中的重要性的报道，特别是在加德纳综合征患者中。
