Desmoid tumors in familial adenomatous polyposis.

To compare absolute volume (AV) assessment according to Response Evaluation Criteria in Solid Tumors (RECIST) for the response evaluation of desmoid tumors (DTs) treated with radiotherapy. Eighteen patients with DTs ?3 cm in size were included. The median follow-up duration was 78.0 months. Five patients achieved a complete response according to RECIST, seven reached a partial response (PR), and one eventually exhibited progression. The overall response rate was 61%, the median time to PR was 8.0 months. Six patients achieved stable disease, although three developed progressions. Of the six patients with a PR, the median change in maximum diameter was -46%, and the median change in maximum volume was -84%. Three patients could have been diagnosed with progression at least 6 months earlier if the AV increment was considered. An AV assessment is essential for an accurate response assessment of DTs and radiotherapy seems feasible as a first-line treatment for DTs.

Desmoid type fibromatosis of the breast is a rare stromal tumor that accounts for <0.2% of all breast tumors. Bilateral and multicentric lesions are extremely rare, with only less than ten cases reported in the literature. Although benign, it is locally aggressive with frequent recurrence in up to almost one-third of the cases. We experienced our first case of bilateral multicentric breast fibromatosis in a 19-year-old woman, with a paternal aunt diagnosed with breast cancer at age 30, who presented to our institution with the chief complaint of retracted nipples for 1 year. The patient denied any history of trauma to her chest. Sonography showed suspicious bilateral hypoechoic masses. Magnetic resonance imaging (MRI) was performed for further evaluation because of the extensive involvement of both the breasts. This report aimed to illustrate the main clinical, radiological, and histopathological characteristics of this rare disease to increase awareness of this entity and discuss the role of MRI.

Desmoid tumors have a variable clinical course that ranges from indolence or spontaneous regression to an aggressive pattern marked by local invasion. Up to half may remain stable or regress; watchful waiting is the preferred approach in the initial management of desmoid tumors. Symptomatic or progressive tumors or those that may affect adjacent critical structures require surgery, radiotherapy, or systemic therapy. Although radiotherapy effectively controls desmoid tumors in most cases, concerns regarding late toxicity exist. Definitive radiotherapy for macroscopic disease is indicated when a non-morbid complete surgical resection cannot be accomplished and provides similar control rates to surgery plus radiotherapy but avoids toxicity from combined-modality treatment (surgery and radiotherapy). Adjuvant radiotherapy can be considered for microscopically involved margins, particularly for recurrent cases or when a future recurrence may be challenging to treat. Large size, extremity site, and younger age are poor prognostic factors after radiotherapy. In the extremity, radiotherapy may have superior outcomes to surgery. Younger patients, especially children, are challenging to manage as they are at particular risk for late toxicity due to the number of potential years at risk. For patients under 20 years old, for whom a non-morbid complete resection is not possible, we recommend systemic therapy as the first line of treatment. Although the long-term efficacy of systemic therapy is unproven, this strategy allows additional time for growth and development prior to radiotherapy. In younger patients and those with axial desmoid tumors adjacent to critical organs, consideration should be given to using proton therapy as the dosimetric advantages may mitigate some of the toxicity associated with conventional radiotherapy.

Desmoid-type fibromatosis is an extremely rare benign tumor with locally aggressive features. It is predominantly developing in soft tissues due to its origin in muscles and aponeurosis. The diagnosis is established by immunohistochemistry with positivity for vimentin, B-catenin and sometimes for smooth muscle actin. The clinical spectrum of presentation is wide, based on this and resectability the treatment is offered. We present the case of a patient with symptoms of gastric outlet obstruction secondary to a subepithelial lesion in the gastric body with conclusive immunohistochemistry for gastric fibromatosis.