Wurster-Hill D H, Brown F, Park J P, Gibson S H
Department of Pathology, Dartmouth Medical School, Hanover, NH 03756.
Am J Hum Genet. 1988 Sep;43(3):285-92.
Dupuytren contracture is a connective tissue disease mainly confined to Caucasians. It is characterized by nodular growth and proliferation of collagen in the palmar and plantar fascias. Autosomal dominance with variable penetrance is considered the most likely mode of inheritance. The goal of the present study was to examine the cytogenetics of this common benign neoplasia. Chromosome studies were performed on the nodular growth of eight patients with Dupuytren contracture, all of whom showed chromosome abnormalities that included numerical and structural clones, random numerical and structural aberrations, prophasing, and premature centromere separation. Numerical clones of trisomies 7 and/or 8, as well as some random structural aberrations, were considered to represent in vivo abnormalities, whereas most structural clones appeared likely to be the results of rapid and selective in vitro growth of particular cells. The disease process occurring in Dupuytren contracture was found to involve marked chromosome instability, as well as some in vivo clonal formation. Transverse fascial tissue, usually considered to be uninvolved in the disease process, unexpectedly showed all the same types of abnormalities as the nodular tissue. This indicates a more widespread distribution of disease in the tissues than previously suspected. The findings in the present study are similar to those in various malignant and benign types of tumorous growth and suggest the importance of further cytogenetic investigation into other conditions of benign growth.
掌腱膜挛缩症是一种主要见于白种人的结缔组织疾病。其特征是掌腱膜和跖腱膜中胶原蛋白呈结节状生长和增殖。常染色体显性遗传且外显率可变被认为是最可能的遗传方式。本研究的目的是检查这种常见良性肿瘤的细胞遗传学。对8例掌腱膜挛缩症患者的结节状生长组织进行了染色体研究，所有患者均显示出染色体异常，包括数目和结构克隆、随机的数目和结构畸变、前期和着丝粒过早分离。7号和/或8号染色体三体的数目克隆以及一些随机的结构畸变被认为代表体内异常，而大多数结构克隆似乎是特定细胞在体外快速选择性生长的结果。发现掌腱膜挛缩症所发生的疾病过程涉及明显的染色体不稳定性以及一些体内克隆形成。通常认为未参与疾病过程的横向筋膜组织意外地显示出与结节组织相同类型的所有异常。这表明该疾病在组织中的分布比以前怀疑的更为广泛。本研究的结果与各种恶性和良性肿瘤生长类型的结果相似，表明进一步对其他良性生长情况进行细胞遗传学研究的重要性。
