Cytogenetic studies in Dupuytren contracture

Abstract

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.