Fletcher J A, Naeem R, Xiao S, Corson J M
Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115.
Cancer Genet Cytogenet. 1995 Feb;79(2):139-43. doi: 10.1016/0165-4608(94)00134-w.
Cytogenetic analyses of short-term cultures revealed clonal chromosome aberrations in 6 of 13 desmoid tumors. These aberrations included two consistent events, trisomy 8 (n = 4) and trisomy 20 (n = 3), which have not been reported previously in desmoid tumors. Because trisomy 8 was found in two recurrent desmoid tumors, we used fluorescent in situ hybridization (FISH) methodology to evaluate chromosome 8 in 25 paraffin-embedded and frozen desmoid specimens. The FISH studies demonstrated that both patients with cytogenetic trisomy 8 at the time of recurrence also had had trisomy 8 in primary tumors 4 years earlier. The proportion of trisomy 8 cells in these cases did not change substantially between original diagnosis and recurrence. The FISH studies also revealed trisomy 8 in one recurrent desmoid tumor which had been cytogenetically unremarkable and revealed trisomy 8 in one recurrent desmoid that had not been karyotyped. Four of six patients with trisomy 8 had been followed for more than 1 year, and the desmoid tumors in each of these 4 patients recurred. By contrast, recurrence was noted in only 2 of 17 patients whose desmoid tumors lacked trisomy 8. Our findings demonstrate that trisomy 8 and trisomy 20 are nonrandom aberrations in desmoid tumors. Trisomy 8 appears to be associated with an increased risk of recurrence.
短期培养物的细胞遗传学分析显示，13例硬纤维瘤中有6例存在克隆性染色体畸变。这些畸变包括两个一致的事件，即8号染色体三体（n = 4）和20号染色体三体（n = 3），此前在硬纤维瘤中尚未见报道。由于在两例复发性硬纤维瘤中发现了8号染色体三体，我们使用荧光原位杂交（FISH）方法对25例石蜡包埋和冷冻的硬纤维瘤标本中的8号染色体进行评估。FISH研究表明，两名在复发时细胞遗传学检测显示8号染色体三体的患者在4年前的原发性肿瘤中也存在8号染色体三体。在这些病例中，从最初诊断到复发，8号染色体三体细胞的比例没有显著变化。FISH研究还在一例细胞遗传学检查无异常的复发性硬纤维瘤中发现了8号染色体三体，并在一例未进行核型分析的复发性硬纤维瘤中发现了8号染色体三体。6例8号染色体三体患者中有4例随访时间超过1年，这4例患者中的每例硬纤维瘤均复发。相比之下，17例8号染色体三体阴性的硬纤维瘤患者中只有2例出现复发。我们的研究结果表明，8号染色体三体和20号染色体三体是硬纤维瘤中的非随机畸变。8号染色体三体似乎与复发风险增加有关。
