Event-free survival in Desmoid-Type fibromatosis (DTF): A pre-post comparison of upfront surgery versus wait-and-see approach

We analyzed 87 consecutive patients with histologically-proven sporadic primary DTF, first recurrence or residual disease managed at our institution between 2000 and 2018. Patients and tumor-related variables were reviewed and analyzed. Two different treatment strategies were adopted according to different time periods: in the “early period” (2000-2010) patients underwent surgical treatment irrespective of the clinical presentation, whereas in the “late period” (2012-2018) asymptomatic patients used to undergo a wait-and-see strategy. The event-free survival (EFS) was compared trough a pre-post comparison. In the early period, surgery was performed in 51 (94.4%) patients and watchful waiting in 3 (5.6%). In the late period, the watchful waiting group accounted for 24 (72.7%) patients and the surgical group for 9 (27.3%). No statistically independent prognostic factors were found. EFS did not show statistically significant differences between early and late period groups. Wait-and-see policy has shown to be equivalent to upfront surgery in terms of EFS; therefore, a conservative approach is recommended in asymptomatic patients diagnosed with DTF that can be followed through watchful waiting.

We report a case of a 60-year-old man who presented with back pain. Contrast-enhanced computed tomography scan revealed a circumscribed tumor in the pancreatic tail measuring 3 cm. The patient underwent laparoscopic spleen-preserving distal pancreatectomy. Pathological analysis revealed a desmoid tumor infiltrating the pancreatic parenchyma. There was no evidence of recurrence at 36 months of follow-up. Isolated sporadic pancreatic desmoid tumors are extremely rare. Laparoscopic radical resection could be a safe and effective treatment for this benign but locally aggressive tumor. To the best of our knowledge, this is the first study to report a patient with a pancreatic desmoid tumor who was successfully treated with laparoscopic surgery.

Breast fibromatosis is a rare clinical entity, but poses significant diagnostic and therapeutic challenges. In light of recent changes in management practices, the aim was to review our institutional experience of breast fibromatosis and provide a review of current available literature on such management. A search of pathological databases within two tertiary institutions for all patients diagnosed with fibromatosis of the breast over a 10-year period (2007-2016) was performed. Concurrently a comprehensive literature search was performed and studies relating to breast fibromatosis and its management were identified and reviewed. Sixteen patients were identified. Median age at diagnosis was 42 (range 21-70) and all patients were diagnosed with core biopsy. The most useful imaging modality in diagnosis was ultrasonography and magnetic resonance imaging. 13/16 were treated surgically whilst 3/16 were treated using a watch-and-wait approach. 6/13 (46%) required re-excision of margins and 2/13 (15%) had recurrence after surgery. On review of the literature, there is no dedicated guideline in place for the management of breast fibromatosis. All cases should be discussed at a sarcoma multidisciplinary team meeting and tyrosine kinase inhibitors should be considered in advanced cases.

Systemic therapy for pediatric desmoid tumors has been challenged by a lack of high-quality clinical evidence and potential adverse effects. The gamma-secretase inhibitor nirogacestat has shown promising efficacy in adults. We report four cases of pediatric and young adult desmoid tumor patients (three with familial adenomatous polyposis [FAP] syndrome) who received nirogacestat on compassionate use. After a median of 13.5 months (range 6-18), three had durable benefit: a complete response (Case 1); a partial response (Case 2); stable disease (Case 3). The fourth had disease progression after a partial response. No patient experienced grade 3 or 4 adverse events.

Cryoablation (CA) has gained popularity in the treatment of benign and malignant musculoskeletal tumors. While extra-abdominal desmoid (EAD) tumors are not malignant, they remain challenging to treat because of their high local recurrence rate. We reviewed all EAD tumors treated with CA at our institution between November 2012 and March 2020. Fourteen procedures were performed on nine females and one male (mean age, 33 ± 18 years) as either first-line (n = 4) or salvage therapy (n = 6) with curative intent (n = 8) or tumor debulking (n = 2). Treatment outcome was based on the change in enhanced tumor volume (ET-V). For curatively treated patients, the mean ET-V change was -97 ± 7%, -44 ± 143%, and +103 ± 312% at 3, 6, and 12 months, respectively. For debulking patients, the mean ET-V change was -98 ± 4%, +149 ± 364%, and +192 ± 353% at 3, 6, and 12 months, respectively. During a mean follow-up of 53.7 months (range, 12-83 months), one grade III and one grade IV complication were noted.

We retrospectively evaluated the images of 20 patients with histologically proven breast fibromatosis on mammography, magnetic resonance imaging (MRI), and ultrasonography. Altogether, there were 22 lesions: 10 lesions involved the superficial fascia system including four lesions additionally involving the deep fascia and pectoralis major, and 12 lesions were inside the glandular parenchyma with two lesions originated from the prior surgery site. The detection rates of mammography, ultrasound, and MRI for breast fibromatosis were 33.3% (3/9), 90% (18/20), and 100% (3/3), respectively. We found that fascia involvement may be a characteristic of breast fibromatosis. The lesion located inside glandular parenchyma is prone to be underestimated, whereas combined MR with ultrasound is recommended for the diagnosis.