Definitive radiation therapy in patients with unresectable desmoid tumors: a systematic review

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.

We are discussing about a 40-year-old male presented with a concomitant diagnosis of non- Hodking lymphoma and mesenteric fibromatosis not associated with any of the risk factors mentioned above. CT and PET scan are performed visualizing a vascularized and well-defined mesenteric center- abdominal solid mass with hypermetabolism contacting with the gastric body, the duodenum, the body and the tail of the pancreas, the transverse colon and the spleen. Ultrasound-guided trucut biopsy showed features suggestive of mesenteric fibromatosis. Elective laparotomy was done and a giant mass arising from mesentery was excised including partial gastrectomy and segmental resection of the transverse colon. Distal pancreatectomy, small bowel resection and successive splenectomy are performed due to a large hypertensive component. The histopathology of the surgical pieces is compatible with intra-abdominal desmoid fibromatosis. As far as we know, it is the biggest case of mesenteric fibromatosis tumour excision reported in the literature. We also noticed that our case is the first reported case of concomitant presence of mesenteric fibromatosis and non-Hodgkin’s lymphoma that has not relation to any described risk factor. More research is needed to establish what type of association this presentation may indicate.

A 46-year-old gentleman was referred to our institution with a 6-month history of recurrent rectal bleeding. He had a strong family history of cancer with two brothers having died of colon cancer before the age of 50, and a son of brain tumor at the age of 2. Colonoscopy showed a large hypervascular pedunculated polyp (2×2.5 cm) in the sigmoid colon that was excised. Follow-up colonoscopy a year later, showed no recurrence at the polypectomy site, but another sessile 2×1 cm polyp was found and excised in the ascending colon. A laparoscopic right hemicolectomy with primary side-to-side ileo-transverse anastomosis was performed. Genetic testing confirmed the diagnosis of Hereditary Nonpolyposis Colorectal Cancer (HNPCC-Lynch syndrome). A follow-up CT scan of the abdomen and pelvis showed a speculated mesenteric mass of 2×1.7 cm in close proximity to the ileocolic anastomosis. A PET-CT scan was performed, and this showed the mass to have FDG uptake with SUV max of 4.67 (Mean Liver SUV based on body weight was 2.6). Findings were suggestive of local recurrence and an exploratory laparotomy was carried out. Histopathology showed no malignancy, but an ill-defined spindle cell proliferation within the pericolic fat, and mesentery arranged in short sweeping fascicles with long thin-walled blood vessels. Tumor cells were positive for beta catenin and negative for SMA, desmin and CD117, confirming the diagnosis of desmoid tumor and excluding other differential diagnoses of GIST, leiomyoma, neurofibroma and schwannoma. Two years’ surveillance workup showed no evidence of recurrence.