Desmoid tumor mimics local recurrence of extremity sarcoma on MRI

We report four cases of desmoid-type fibromatosis (“desmoid tumors”) mimicking local recurrence after extremity sarcoma resection. We retrospectively reviewed the records of patients treated for extremity sarcoma by our orthopedic oncology service from 2014 to 2019 and identified four patients with biopsy-proven desmoid tumors. We extracted clinical, pathologic, radiographic, and operative data for the primary neoplasms and desmoid tumors. Four patients with post resection surveillance magnetic resonance imaging suspicious for local recurrence underwent further analysis showing desmoid tumors. Patients underwent image-guided needle biopsy, with specimens demonstrating fibromatosis-type histologic characteristics. Two cases were beta-catenin positive. Desmoid tumors were managed with observation. No patient had experienced local or distant recurrence of the primary tumor at a mean follow-up of 30 months after resection (range, 23-34 months); none underwent surgery for symptoms of desmoid tumors.

The purpose of this systematic review is to assess and compare the efficacy of surgical treatment for patients with asymptomatic extra-peritoneal desmoid-type fibromatosis to the wait-and-see policy by evaluating (1) the exacerbation rate (exacerbation; recurrence after surgery or progressive disease following non-surgical treatment) and (2) treatment-associated complications in extra-peritoneal desmoid-type fibromatosis. We evaluated documents published between 1 January 1990 and 31 August 2017. One prospective cohort study, four case-control studies and five case series studies were identified. Meta-analysis was performed to evaluate the exacerbation rate after treatment on one prospective cohort study and four case-control studies. In comparing surgical and non-surgical treatments, the exacerbation rate was significantly higher in the surgical treatment group (odds ratio: 1.32, 95% confidence interval 1.01-1.73, P = 0.05). However, in the case series study, the recurrence rate was 23.4% for the surgical treatment group, while the progressive disease rate was 28.1% for the non-surgical treatment group. The postoperative complication rates associated with surgical treatment in the two studies were 20.8 and 17.2%, respectively. When considering the exacerbation rate, non-surgical treatment might be appropriate for asymptomatic patients with extra-peritoneal desmoid-type fibromatosis. However, if patients with tumor-related symptoms opt for surgery, including those who face difficulties due to the presence of tumors, it is important to fully explain to them the possibility that the recurrence rate and treatment-associated functional failures may increase depending on the site of occurrence.

The aim of this systematic review was to evaluate the effect of radiation therapy on patients with desmoid tumors, especially those with unresectable disease. We evaluated studies published between 1 January 1990 and 31 August 2017 and cited in PubMed and Ichushi (in Japanese). All studies evaluating the effect of radiation therapy on desmoid tumors were included. Among 218 identified studies, only 6 were finally included in this review. Local control was achieved in 253 of 317 patients with unresectable or unresected tumors who underwent definitive radiation therapy (the crude rate of local control was 79.8%). Toxicity was evaluated in patients who underwent definitive radiation therapy or surgery plus radiation therapy. One of the most common acute complications was skin toxicity. Frequent late complications of radiation therapy included fibrosis/contracture/joint stiffness, skin disorders, lymphedema and pain. Six patients developed secondary malignancies in the radiation field. In patients treated unsuccessfully with surgery, watchful waiting and pharmacotherapy, radiation therapy may be an option as salvage therapy because of the high rate of local control. Because desmoid tumors frequently develop in young individuals, children and young patients who receive radiation therapy for the treatment of desmoid tumors should be followed up on a long-term basis with periodic monitoring for late radiation toxicities.

Desmoid tumors of the extremities often present with pain and functional limitation, but treatment can lead to morbidity and recurrence is common. In a retrospective review of consecutive patients treated at two institutions, we asked: (1) Is event-free survival (EFS) different between patients who undergo local treatment and those who do not for primary as well as for recurrent desmoid tumors? (2) What treatment-related factors are associated with worse Patient-reported Outcomes Measurement Information System (PROMIS) function scores at a minimum of 1 year after treatment? Between 1991 and 2017, 102 patients with desmoid tumors of the extremities (excluding those of the hands and feet) were treated at two institutions; of those, 85 patients with 90 tumors were followed clinically for at least 1 year (median [range] 59 months follow-up [12 to 293]) and were included in the present analysis. Complete survey data (minimum 1 year follow-up) were available for 46% (39 of 102) of patients with 40 tumors at a median of 125 months follow-up; only these patients were included in PROMIS data analyses. We analyzed 56 primary tumors (54 patients), and 101 discrete treatment episodes for recurrent tumors (88 patients). Among primary tumors, 5-year EFS was 44% (95% CI 24 to 80) for the systemic-only group versus 15% (95% CI 5 to 44) for the local treatment group (p = 0.087). Within the pooled recurrence treatment episode cohort, 5-year EFS after systemic-only treatment was 70% (95% CI 52 to 94) versus 56% among patients receiving any local treatment (95% CI 44 to 70; p = 0.46). PROMIS function scores were lowest among patients who underwent two or more resections (39 versus 51 versus 47 for ?2, 1, and 0 resections, respectively; p = 0.025); among those who received both surgery and radiation at any point, either concurrently or in separate treatment episodes, as compared with those who did not (39 versus 46; p = 0.047); and among those with higher levels of pain interference (38 versus 47 for pain interference scores > 50 versus < 50; p = 0.006). Patients treated with local modalities (surgery and/or radiation, with or without additional systemic therapy) did not experience improved EFS as compared with those treated without local modalities; this was the case for both the primary and the recurrent tumor cohorts. However, PROMIS function scores were lowest among patients who underwent two or more surgical interventions and among those treated with surgery and radiation at any time, suggesting that more aggressive local treatment may be associated with poorer long-term functional outcomes. Prospective collection of patient-reported outcomes data at multiple time points will allow for more direct correlations between treatment modality and impact on function and will help to elucidate the ideal management strategy for these benign but often-symptomatic tumors.

We encountered a patient with desmoid-type fibromatosis in the pelvis who was treated by radiation and medication therapies and achieved a good tumor reduction effect. The patient was a 70-year-old man. He had a 6-year history of pain in the right leg and had a palpable mass on the right side of the anus; he was admitted to our department. CT showed a 12?7?12 cm mass in the pelvis, and CT-guided needle biopsy revealed a desmoid-type fibromatosis. Because tumor exclusion resulted in obstruction of the rectum, radiation therapy(60 Gy in 30 Fr) was started after performing transverse colon colostomy; simultaneous medication therapy with a COX-2 inhibitor and the anti-allergic agent tranilast was administered. Cystic degeneration was observed 5 months after the end of radiation therapy, and after 12 months, the tumor volume had halved. Around 28 months after the end of radiation therapy, medication treatment has been continued with slow contraction.

With recent conservative strategies, prognosis of patients with desmoid-type fibromatosis (DTF) is about function preservation. We analyzed the long-term quality of life (QoL) of pediatric patients with DTF. All French young patients (<21years) treated between 2005 and 2016 for a DTF in the EpSSG NRSTS-05 study were analyzed. A first wait-and-see strategy was recommended. Patients’ QoL was analyzed with the internationally validated Child Health Questionnaire (CHQ). We focused on the relevant subscales scores: physical functioning (PF), role social limitations physical (RP), bodily pain (BP), general health perception (GH) and physical (PhS) and psychosocial (PsS) summary measures. Among the 81 patients, 52 families answered the CHQ (median delay since diagnosis = 6.2years; min2.2-max13.3 years). Median age at diagnosis was 11.5 years. Primary site: limbs (52%), head/neck (27%), or trunk (21%). Five year-Progression Free Survival was 39.1% (95%CI: 27.7-50.5%). As initial management for these 52 patients, 30 patients were first observed (57%), 13 had surgery (25%) and 9 received chemotherapy (18%). Total burden of therapy was exclusive surgery (9pts/18%), exclusive chemotherapy (18pts/35%), surgery + chemotherapy (13pts/25%), chemotherapy + radiotherapy (1 pt), surgery + chemotherapy + radiotherapy (1 pt), wait and see (10 pt). Regarding the parent forms, patients have significant lower PF (86.0vs.96.1; p = 0.03), RP (82.0vs.93.6; p = 0.04), GH (60vs.73; p < 0.005) and PhS (46.2 vs.53; p = 0.02) scores compared to healthy population. Comparison of QoL subscales scores according to initial strategy (wait-and-see vs.surgery/chemotherapy) did not reveal any difference (PF = 87.3vs.84.9; p = 0.80/RP = 83.4vs.78.7; p = 0.72/BP = 78.9vs.78.2; p = 0.95/GH = 59.7vs60; p = 0.97). Similar results were found using the children or adult forms. Initial wait-and-see strategy does not affect long term functional impairment.