Bridge J A, Sreekantaiah C, Mouron B, Neff J R, Sandberg A A, Wolman S R
University of Kansas Medical Center, Kansas City.
Cancer. 1992 Jan 15;69(2):430-6. doi: 10.1002/1097-0142(19920115)69:2<430::aid-cncr2820690226>3.0.co;2-h.
Desmoid tumors (aggressive fibromatosis) are regarded as lesions of uncertain histopathogenesis. Cytogenetic analyses of 26 desmoid tumor specimens from abdominal or extraabdominal sites of 22 patients with or without Gardner's syndrome (GS) showed clonal karyotypic abnormalities in 7 cases, random abnormalities in 14 cases, and striking telomeric fusion in 5 cases. Loss of chromosome Y, a reported feature of fibromatosis in penile and palmar locations, was detected as a clonal aberration in two patients. Additionally, involvement of 5q was observed in six patients, two of whom had GS. Clonal interstitial deletions of 5q were observed in three patients, one with and two without GS. These findings confirm a clonal and probable neoplastic origin for desmoid tumor and suggest that abnormalities of the Y chromosome and 5q may be important in the genesis of this neoplasm.
硬纤维瘤（侵袭性纤维瘤病）被认为是组织病理发生机制不明的病变。对22例患有或未患有加德纳综合征（GS）的患者的26个来自腹部或腹部外部位的硬纤维瘤标本进行细胞遗传学分析，结果显示7例存在克隆性核型异常，14例为随机异常，5例出现明显的端粒融合。Y染色体缺失是阴茎和手掌部位纤维瘤病的一个已报道特征，在两名患者中被检测为克隆性畸变。此外，6例患者观察到5号染色体长臂（5q）受累，其中2例患有GS。3例患者观察到5q的克隆性间质缺失，1例患有GS，2例未患GS。这些发现证实了硬纤维瘤的克隆性及可能的肿瘤起源，并表明Y染色体和5q的异常可能在该肿瘤的发生中起重要作用。
