Answer to Quiz No. 72 dated 24 Jul 2016
Desmoid tumour (Gardner syndrome)
Findings
Large lobulated heterogeneously enhancing lesion involving the left rectus muscle, with few small bowel loops adherent to it. Smaller heterogenous lesion involving the right rectus muscle. – Suggestive of abdominal wall desmoid tumors. --Soft tissue density lesions in the mesentery with extensive surrounding fat stranding and clumping of surrounding small bowel loops. No significant small bowel wall thickening / dilatation. – Could represent mesenteric desmoids.
Discussion
Gardner syndrome is an autosomal dominant disorder associated with mutations arising in the adenomatous polyposis coli gene on chromosome 5-q21. 2months to 70 years age group can be symptomatic. Main concern is near 100% rate of malignant transformation of the adenomatous polyps into adenocarcinoma. Total colectomy and removal of all colonic mucosa are advocated to risk of developing other tumors like desmoid tumor, papillary thyroid carcinoma. life long follow up is required. Extra colonic manifestations like small bowel polyps, duodenal carcinoma , osteomas, sebaceous cysts, dentigerous cysts, retinal pigmentation anomalies, mesenteric desmoid and papillary thyroid carcinomas of Gardner syndrome often preceded the discovery of colonic polyps Slow growing mesenteric desmoids are also seen in association with Gardner syndrome. Desmoid tumors with hyperplastic or low grade neoplastic fibrosis may also develop secondary to trauma of surgery
References
Gastrointestinal Case of the Day Cary A. Newman, , Warren L. Reuther, , Masako N. Wakabayashi, , Michelle M. Payette,Branko M. Plavsic. RadioGraphics, Mar 1999, Vol. 19: 546–548, 10.1148/radiographics.19.2.g99mr21546
Findings
Large lobulated heterogeneously enhancing lesion involving the left rectus muscle, with few small bowel loops adherent to it. Smaller heterogenous lesion involving the right rectus muscle. – Suggestive of abdominal wall desmoid tumors. --Soft tissue density lesions in the mesentery with extensive surrounding fat stranding and clumping of surrounding small bowel loops. No significant small bowel wall thickening / dilatation. – Could represent mesenteric desmoids.
Discussion
Gardner syndrome is an autosomal dominant disorder associated with mutations arising in the adenomatous polyposis coli gene on chromosome 5-q21. 2months to 70 years age group can be symptomatic. Main concern is near 100% rate of malignant transformation of the adenomatous polyps into adenocarcinoma. Total colectomy and removal of all colonic mucosa are advocated to risk of developing other tumors like desmoid tumor, papillary thyroid carcinoma. life long follow up is required. Extra colonic manifestations like small bowel polyps, duodenal carcinoma , osteomas, sebaceous cysts, dentigerous cysts, retinal pigmentation anomalies, mesenteric desmoid and papillary thyroid carcinomas of Gardner syndrome often preceded the discovery of colonic polyps Slow growing mesenteric desmoids are also seen in association with Gardner syndrome. Desmoid tumors with hyperplastic or low grade neoplastic fibrosis may also develop secondary to trauma of surgery
References
Gastrointestinal Case of the Day Cary A. Newman, , Warren L. Reuther, , Masako N. Wakabayashi, , Michelle M. Payette,Branko M. Plavsic. RadioGraphics, Mar 1999, Vol. 19: 546–548, 10.1148/radiographics.19.2.g99mr21546
