Major Genetic Syndromes
Table 5. Extracolonic Tumor Risks in Familial Adenomatous Polyposis continued...
A second study of 13 patients with FAP-associated desmoids, who were treated with tamoxifen 120 mg/day or raloxifene 120 mg/day in combination with sulindac 300 mg/day, reported that ten patients had either stable disease (n = 6) or a partial or complete response (n = 4) for more than 6 months and that three patients had stable disease for more than 30 months. These results suggest that the combination of these agents may be effective in at least slowing the growth of desmoid tumors. However, the natural history of desmoids is variable, with both spontaneous regression and variable growth rates.
A third study reported mixed results in 14 patients with FAP-associated desmoid tumors treated with pirfenidone for 2 years. In this study, some patients had regression, some patients had progression, and some patients had stable disease.
These three studies illustrate some of the problems encountered in the study of desmoid disease in FAP patients:
- The definition of desmoid disease has been used inconsistently.
- In some patients, desmoid tumors do not progress or are very slow growing and may not need therapy.
- There is no consistent, systematic way to evaluate the response to therapy.
- There is no single institution that will enroll enough patients to perform a randomized trial.
No randomized clinical trials using these agents have been performed and their use in clinical practice is based on anecdotal experience only.
Level of evidence: 4
Because of the high rates of morbidity and recurrence, in general, surgical resection is not recommended in the treatment of intra-abdominal desmoid tumors. However, some have advocated a role for surgery given the ineffectiveness of medical therapy, even when the potential hazards of surgery are considered, and recognizing that not all desmoids are resectable. A recent review of one hospital's experience suggested that surgical outcomes with intra-abdominal desmoids may be better than previously believed.[48,49] Issues of subject selection are critical in evaluating surgical outcome data. Abdominal wall desmoids can be treated with surgical resection, but the recurrence rate is high.