Related Experiment Videos
The desmoid tumor. III. A biochemical and genetic analysis
Abstract:
We have carefully examined four patients with desmoid tumor (DT) and their 31 relatives. In three of four cases, biopsies of the DT demonstrated low yet significant amounts of estrogen but not progesterone receptors in the tumor cytosol. In the fourth case, where the receptors were not demonstrable, the affected patient was a menopausal woman and the receptors may have been blocked by endogenous estrogen. Fourteen of their 31 relatives demonstrated multiple minor bone malformations in x-ray screening of the skeleton. The inheritance of these malformations was compatible with an autosomal dominant trait with variable penetrance. These findings are compatible with our suggestion that the basic underlying cause for DT is an inherited defect in growth regulation of the connective tissue. When a trauma is superimposed on such an individual, a DT may result. The growth of the tumor is, however, controlled primarily by sex hormones, estrogen predominance over progesterone being inducive to tumor growth.
Insights
Desmoid tumors (DTs) may stem from an inherited connective tissue growth defect, influenced by estrogen. Trauma can trigger DT development, with estrogen dominance promoting tumor growth.
Area of Science:
- Oncology
- Genetics
- Endocrinology
Background:
- Desmoid tumors (DTs) are rare neoplasms characterized by aggressive local growth.
- The etiology of DTs is not fully understood, but genetic and hormonal factors are suspected.
- Previous studies suggest a potential role for sex hormones in DT development.
Purpose of the Study:
- To investigate the potential inherited basis of desmoid tumors.
- To examine the role of estrogen and progesterone receptors in DT tissue.
- To explore the association between DTs and skeletal malformations in familial cases.
Main Methods:
- Clinical examination and biopsy of four desmoid tumor patients and 31 relatives.
- Analysis of estrogen and progesterone receptors in tumor cytosol.
- Skeletal X-ray screening for minor bone malformations in relatives.
Main Results:
- Estrogen receptors were detected in three of four DT biopsies; progesterone receptors were not.
- One patient, a menopausal woman, showed no demonstrable receptors, possibly due to endogenous estrogen.
- Fourteen of 31 relatives exhibited minor bone malformations, suggesting autosomal dominant inheritance with variable penetrance.
Conclusions:
- Desmoid tumors may arise from an inherited defect in connective tissue growth regulation.
- Trauma may act as a trigger for DT formation in susceptible individuals.
- Tumor growth is primarily regulated by sex hormones, with estrogen predominance promoting growth.