From the Guidelines
Gardner syndrome cysts should be managed with a multidisciplinary approach, prioritizing surgical excision of symptomatic cysts and regular colonoscopies to address the associated high risk of colorectal cancer, as recommended by the most recent guidelines 1. The condition is characterized by multiple polyps in the colon, osteomas, and various soft tissue tumors, including epidermoid cysts, which typically appear on the face, scalp, and extremities. Key considerations in the management of Gardner syndrome cysts include:
- Surgical excision of symptomatic cysts with complete removal of the cyst wall to prevent recurrence
- Regular colonoscopies starting in adolescence to address the nearly 100% lifetime risk of colorectal cancer
- A multidisciplinary approach involving dermatologists, gastroenterologists, and genetic counselors to address both cutaneous manifestations and intestinal polyps
- Screening of family members due to the autosomal dominant inheritance pattern of the condition, caused by mutations in the APC gene The most recent guidelines 1 emphasize the importance of active surveillance, medical therapy, and consideration of individual patient factors, such as fertility status, in the management of desmoid fibromatosis associated with Gardner syndrome. Treatment options may include sorafenib, pegylated liposomal doxorubicin, pazopanib, and low-dose chemotherapy, as well as radiotherapy and local therapies like cryoablation for unresectable tumors in critical disease sites 1. Overall, the management of Gardner syndrome cysts requires a comprehensive and individualized approach to address the complex needs of patients with this rare genetic disorder.
From the Research
Gardner Syndrome Cyst
- Gardner syndrome is a variant of familial adenomatous polyposis (FAP) that results in the manifestation of numerous external and internal symptoms, including gastrointestinal polyps, osteomas, tumors, and epidermoid cysts 2.
- The syndrome is characterized by the presence of polyps in the colon, osteomas, and abnormalities in the retinal epithelium, which distinguish it from other differential diagnoses such as Turcot syndrome and FAP 2.
- Desmoid tumors are a common manifestation of Gardner's syndrome, and are often located in the abdominal wall and/or intra-abdominal cavity, but can also occur in other locations such as the breast and dorsal region 3, 4.
- The primary treatment for desmoid tumors is surgery, but this can result in a high local recurrence rate and debilitating loss of function, and alternative treatments such as radiofrequency ablation may be considered 3, 4.
- Patients with Gardner's syndrome are at significant risk for developing desmoid tumors, particularly at sites of surgical scarring, and require careful follow-up and monitoring for signs of tumor development 5, 6.
Management and Treatment
- Surgery is the most effective method of management for Gardner syndrome, with restorative proctocolectomy with ileal pouch anal anastomosis with mucosectomy being the top choice for colonic malignancies 2.
- Skin manifestations of Gardner syndrome can be treated through a variety of excisions and therapy depending on location, size, and number of malignancies 2.
- Radiofrequency ablation is a possible therapeutic option for desmoid tumors in patients with Gardner's syndrome, particularly for those with recurrent or unresectable tumors 3.
- Complete surgical excision combined with radiotherapy may diminish the recurrence rate of desmoid tumors, and radiotherapy remains a second choice of treatment when resection is incomplete or technically impossible 6.