DESMOID-TYPE fibromatosis of the head and neck in children: A Changing situation

Desmoid-type fibromatosis (DF) is a rare benign lesion known for its local aggressiveness. The tumor management still remains under debate. Primary head and neck (HN), represents the second most prevalently affected sitein children with DF. This study aims to analyze the specificity of HN-DF in children, focusing on long-term effects of the tumor and therapies.This retrospective multicenter study analyzed children treated for a HN-DF between 1993 and 2013. Sixteen children were selected. Mandibular and submandibular areas were the main locations (11 cases). Eight children underwent chemotherapy as first-line therapy with tumor control in 3 cases and 5 cases needing additional treatment. Six children underwent primary surgery: isolated in 3 cases and with additional treatment after tumor progression in 3 cases. A wait-and-see attitude was adopted for 2 children without any additional treatment in 1 case, and followed by additional chemotherapy in the other case. Total burden of treatment to control the disease was a biopsy (1 case), surgery (3 unique cases, 1 multiple case), surgery with chemotherapy (6 cases), and exclusive medical therapies (5 cases). Surgical postoperative sequelae were facial palsy (cases of parotid gland affection), XIth cranial nerve sacrifice or sensory impairment. HN-DF is a local and extensive disease that is difficult to control with surgery alone. Sequelae are frequent due to the initial tumor location or therapies. Initial conservative strategies need to be discussed in a multidisciplinary way in order to try to control the disease with the minimal morbidity.

There is currently no standard treatment for desmoid tumors (DTs) associated with familial polyposis coli (FAP). Familial adenomatous polyposis in DT patients is sometimes a life-threatening condition. We enrolled all consecutive patients with FAP treated at Unit of General Surgery and Transplant, University of Naples Federico II and evaluated the incidence of DTs on FAP between 1996 and 2016. We observed 45 consecutive patients with FAP; of these 5 were DT-FAP-associated. All 5 cases with FAP were young women, age 25 to 65 years, previously treated by colectomy. Of these, 4 patients presented a parietal localization and had been treated with a wide surgical exeresis; one patient had an intra-abdominal, mesenteric tumor that was unresectable at laparotomy. We performed CT-guided drainage, ureteral stenting, medical therapy (sulindac + tamoxifene), and chemotherapy (dacarba-zine+doxorubicine). All patients were alive and underwent follow-ups for 5 years post-surgery; only 1 patient with parietal localization showed a local relapse after 2 years. We propose a modulated approach to the single patient with FAP, with surgery as treatment of choice for parietal localization disease and integrating different kinds of therapies (surgery alone or associated with RT, CT) for the intra-abdominal tumor.

In this study, we performed surgery for an abdominal mass involving the bladder, sigmoid colon, ileum, omentum, and rectus abdominis muscle macroscopically. A 50-year-old woman complained about abdominal distention of 1-year duration and abdominal pain for 2 months. In physical examination, tenderness was found at the lower quadrants of the abdomen and the suprapubic region. Computed tomography (CT) revealed a 43 × 43-mm mass lesion in the soft tissue densities. Magnetic resonance imaging (MRI) revealed a 43-mm lesion most likely a cyst or a sigmoid mass associated with sigmoid colon. Tumor was totally resected and pathologically diagnosed as fibromatosis. Differential diagnosis of the abdominal desmoid tumors could be difficult if the tumor is not settled in anterior preperitoneal space typically. Primary treatment of aggressive fibromatosis is surgery. Depending on the experience of the surgeon, recurrence rate varies between 25 and 65%. Radiotherapy is performed as adjuvant treatment for local control of the tumor or can be performed if the disease is extensive and local excision is not possible with surgery.

The goal of this retrospective study was to evaluate the results of different treatment modalities for extra-abdominal desmoid tumours at four sarcoma treatment centres. The mean follow-up time for the 96 patients included in the study (63.5% female; mean age 38.9 years) was 8.4 years (2.0-40.5 years). The initial treatments were surgery (n = 44), surgery with radiation (n = 16), watchful waiting (n = 15), radiation only (n = 9), or systemic treatment (n = 12). The local recurrence rate was 45.5% in patients with primary surgical treatment and 37.5% following surgery combined with irradiation. Patients who were treated with radiation alone showed regressive (33.3%) or stable disease (66.6%). Systemic treatment alone resulted in disease progression in 41.7% of our patients. In the watchful waiting group, 73.3% showed stable disease, 20.0% showed spontaneous regression, and 6.7% showed progression after a mean follow-up of 4.1 years (2.0-11.5 years). Our results suggest that a watchful waiting approach should be the first line treatment in asymptomatic desmoid tumours. However, radiation can help improve local control rates in patients who have undergone surgery. Progression and local recurrence rates following systemic treatment were comparable to those observed in surgery combined with radiation.

In this study, tumor characteristics of desmoid-type fibromatosis (DF), transition of the treatment modality, and clinical outcome of surgical treatment were analyzed based on data obtained from the bone and soft tissue tumor registry established in Japan. Data were collected as registration data and follow-up data. Five hundred and thirty registered cases of DF were identified, including 223 cases with follow-up data with or without surgical treatment. The number of registered patients increased gradually. The frequency of surgical treatment was gradually reduced year by year. The 3-year local recurrence free survival (LRFS) was 77.7%, with tumor location and size tending to correlate with LRFS. Interestingly, there was no significant difference in LRFS between wide and marginal margin (P = 0.34). The treatment modality has shifted from surgical to conservative treatment, with risk factors for surgical treatment similar to those noted in previous studies. The National registry system is crucial for a rare disease such as DF, and in the future, a population based registry system should be established to better comprehend the actual status of DF.

We aimed to assess antitumour activity and safety of targeted therapy or combination chemotherapy in progressive desmoid tumours. DESMOPAZ was a non-comparative, randomised, open-label, phase 2 trial conducted at 12 centres from the French Sarcoma Group. We enrolled adults (≥18 years) with progressive desmoid tumours, normal organ function and centrally documented progressive disease according to Response Evaluation Criteria in Solid Tumors version 1.1 based on two imaging assessments obtained within less than a 6-month interval. Participants were randomly assigned (2:1) to oral pazopanib 800 mg per day for up to 1 year or to an intravenous regimen combining vinblastine (5 mg/m2 per dose) and methotrexate (30 mg/m2 per dose), administered weekly for 6 months and then every other week for 6 months. The primary endpoint was the proportion of patients who had not progressed at 6 months in the first 43 patients who had received one complete or two incomplete cycles of pazopanib. This endpoint was also assessed as a prespecified exploratory endpoint in all patients who had received one complete or two incomplete cycles of methotrexate-vinblastane. From Dec 4, 2012, to Aug 18, 2017, 72 patients were enrolled and randomly assigned (n=48 in the pazopanib group; n=24 in the methotrexate-vinblastine group). Median follow-up was 23·4 months (IQR 17·1-25·5). In the first 43 patients assessable for the primary endpoint in the pazopanib group, the proportion of patients who had not progressed at 6 months was 83·7% (95% CI 69·3-93·2). The proportion of patients treated with methotrexate-vinblastine who had not progressed at 6 months was 45·0% (95% CI 23·1-68·5). The most common grade 3 or 4 adverse events in the pazopanib group were hypertension (n=10, 21%) and diarrhea (n=7, 15%) and in the methotrexate-vinblastine group were neutropenia (n=10, 45%) and liver transaminitis (n=4, 18%). 11 patients (23%) had at least one serious adverse event related to study treatment in the pazopanib group, as did six patients (27%) in the methotrexate-vinblastine group. Pazopanib has clinical activity in patients with progressive desmoid tumours and could be a valid treatment option in this rare and disabling disease.