[Long-term experience with therapy of a female patient with Gardner's syndrome, first presenting with extra-abdominal desmoid tumor, and review of the literature]. / Extraabdominalis desmoid tumorral megjeleno Gardner-syndromás beteg kezelésével szerzett hosszú távú tapasztalataink és irodalmi áttekintés.

Gardner's syndrome is a clinical subgroup of familial adenomatous polyposis, an autosomal dominant disease. It is characterized by gastrointestinal polyps and extra-intestinal manifestations including multiple osteomas, skin and soft tissue tumours. Aggressive desmoid tumours can be very difficult to manage in patients with Gardner's syndrome. We present a case of a 17-year-old female who presented with an aggressive desmoid tumor arising of the lumbar area as part of her Gardner's syndrome. She was treated with surgery, nonsteroidal anti-inflammatory drugs, tamoxifen and radiotherapy, and was followed up for 80 months. We conclude that desmoid tumors can precede gastrointestinal manifestations of familial adenomatous polyposis or Gardner's syndrome. Such patients should be evaluated with genetic testing followed by colonoscopy. Desmoid tumours should be managed in a multidisciplinary setting, as well.

Complete regression of colonic adenomas after treatment with sulindac in Gardner's syndrome: a 4-year follow-up.

A 22-year-old woman with Gardner's syndrome in whom long-term sulindac therapy, without surgical treatment, was effective in inducing complete regression of colonic adenomas is reported. One hundred milligrams of sulindac was administered twice daily after endoscopic polypectomy. Follow-up colonoscopy 6 months later revealed an encouraging regression of colonic adenomas. The tumors had disappeared after 40 months of sulindac treatment. A sustained effect was identified even after 51 months. Ten milligrams of famotidine was coadministered to prevent side effects of sulindac. Although the effect of sulindac on colorectal adenomas may be transient, this therapy may be useful for postponing prophylactic colectomy, especially for the sparse type of familial adenomatous polyposis.

Testolactone, sulindac, warfarin, and vitamin K1 for unresectable desmoid tumors.

Ten patients with large inoperable desmoid tumors in various body locations were treated with testolactone. Four tumors (40%) responded with major regressions, i.e., more than 50% reduction in volume. Eight patients received nonsteroid anti-inflammatory drugs (indomethacin, sulindac, or sulindac with warfarin and vitamin K1 [Mephyton]) for periods of 2 to 91 months. There was one major regression, one partial regression, and three instances of tumor growth arrest over periods up to 8 years. Seven patients were treated with nonsteroid anti-inflammatory drugs concurrent with or after testolactone or tamoxifen. There were five major regressions and one partial regression with extensive central necrosis of an enormous intra-abdominal tumor. The last patient has been treated for only 12 months, with no change in tumor volume. It appears that estrogens function as growth factors for desmoid tumors, and that minimization of these effects inhibits tumor growth in some, but not all, cases. In those instances where antiestrogens were not effective as single agents, the tumors usually responded to subsequent nonsteroid anti-inflammatory drug therapy. Withdrawal of estrogen may be followed by inhibition of transcription of genes that support tumor cell proliferation, and sulindac and indomethacin may augment these effects by inhibiting prostaglandin and cyclic AMP synthesis and the activity of protein kinase C. Warfarin may function as a protonophore to acidify the cytoplasm and prevent the alkalinization that is necessary to initiate DNA synthesis and cell cycle progression, again an impairment of the transcription process.

Sulindac for polyposis of the colon.

The effect of sulindac, a nonsteroid antiinflammatory drug, on colon polyposis has been evaluated in seven patients after subtotal colectomy and ileoproctostomy and in four patients with intact colons. The patients all had Gardner's syndrome or familial polyposis coli. All polyps were eliminated, except for a few that arose in the rectal mucosa and the anal canal. No cancers developed in these patients on follow-up.

Regression of gastric polyps in Gardner's syndrome with use of indomethacin suppositories: a case report.

Patients with familial adenomatous polyposis most often have multiple polyps in the large bowel and also in the gastroduodenal region. There are reports of regression or disappearance of colorectal and duodenal polyps while on sulindac therapy. We report here what seems to be the first case of regression of gastric polyps while on indomethacin suppository treatment.

Sulindac suppression of colorectal polyps in Gardner's syndrome.

Sulindac causes both regression and suppression of colorectal polyps in patients with Gardner's syndrome and familial polyposis coli. Three patients with Gardner's syndrome and multiple colonic polyps had complete regression of polyps after two to three months of sulindac therapy. The implication that sulindac may prevent colorectal cancer and prophylactic surgery in patients with hereditary polyps of the colon is intriguing but has not yet been substantiated.

Disappearance of duodenal polyps in Gardner's syndrome with sulindac therapy.

Duodenal polyps with a malignant potential pose a serious threat to Gardner's patients. Several reports have shown regression or disappearance of colonic polyps with sulindac therapy. We report the first case of disappearance of duodenal polyps with sulindac.

Sulindac for polyposis of the colon.

Four members of a Gardner's syndrome family had rectal and colon polyposis treated with nonsteroid anti-inflammatory drugs. Three of these patients had had subtotal colectomy and ileoproctostomy and the residual polyps arose in the rectal mucosa. The polyps almost completely disappeared when sulindac was administered. Indomethacin therapy over the course of a preceding year was ineffective in one of these patients. One patient (case 4) had diffuse polyposis in an intact colon. After sulindac therapy for a year, only three small mucosal polyps could be identified by air contrast barium enema and colonoscopic examination. These observations confirm those of Pollard and Luckert [1,2] on rats with chemically induced polyposis of the intestinal tract.

Treatment of desmoid tumors in Gardner's syndrome. Report of a case.

Aggressive desmoid tumors present difficult problems among patients with Gardner's syndrome. Recently, attention has been directed toward metabolic or hormonal manipulation of these tumors. A 21-year-old woman with Gardner's syndrome was admitted because of recurrent abdominal wall tumors. She was treated with nonsteroidal anti-inflammatory drugs, tamoxifen, and ascorbate for seven months. During this therapy, CT scan showed a gradual increase in size of the tumors. Subsequent resection of the abdominal tumors and the colon was performed. Although these three types of drugs were administered to prevent postoperative recurrence, an abdominal wall desmoid tumor that invaded the mesentery developed within nine months. The known treatments, that is, chemotherapy, irradiation, and surgical resection are discussed in view of this experience.

[Regression of adenomas in Gardner's syndrome induced by systemic chemotherapy].

A 31-year-old male was admitted to our hospital with Gardner's syndrome and sigmoid colon cancer. Palliative resection (sigmoid colectomy) was performed due to hepatic and lymph node metastasis. Systemic chemotherapy with MMC, 5-FU and PSK was started postoperatively. Barium enema study on the 23rd successive post-operative day and fiberscopic study on the 134th post-operative day showed regression of the size and number of the polyps in the remaining colon and rectum. We suggest that the administration of anticancer drugs may be useful in the treatment of familial polyposis or Gardner's syndrome which have been treated with only surgical therapy.

Bleomycin sensitivity in patients with familial and sporadic polyposis: a pilot study

Human peripheral blood lymphocytes from 10 patients with familial adenomatous polyposis (FAP) showed a significantly higher incidence of chromatid breaks when compared to cells from 10 normal individuals, after exposure to bleomycin (BLM) during the G2 phase. However, no significant increase in bleomycin sensitivity was observed in lymphocytes from 10 patients with sporadic adenomatous polyps (AP) vs. 10 normal individuals (P = 0.67). Individuals that exhibited an average number of chromatid breaks per cell higher than 0.80 were considered sensitive to the drug. No control showed susceptibility to BLM, as compared to 3 out of 20 patients.