A Single Center 10-Year Retrospective Analysis of Cryoablation for the Management of Desmoid Tumors

Purpose: To retrospectively determine efficacy and safety of cryoablation in patients with desmoid tumors over a 10-year period at a single institution. Materials and methods: Between 25 February 2010 and 25 February 2020, 25 patients (12 – 80 years) with 26 lesions (mean pre-procedural tumor volume was 236.6 cm3) were treated over 44 cryoablation procedures. 11 patients were treated as first line therapy. 14 patients had previous medical therapy, radiotherapy and/or surgery. Subsequent clinical follow up, imaging outcomes and safety were analyzed for technical success, change in total lesion volume (TLV) and viable tumor volume (VTV), modified response evaluation criteria in solid tumors (mRECIST), progression free survival (PFS) for tumor progression and symptom recurrence, symptom improvement and procedure related complications. Symptomatic improvement was defined as documentation of relief of pain (partial or complete) and/or functional impairment. Results: All procedures were technically successful. At 7 to 12 months, median change in TLV and VTV were -6.7% (p = 0.809) and -43.7% (p = 0.01) respectively. By 10-12 months mRECIST, responses were complete response 0%, partial response 61.5% (8/13), stable disease 30.8% (4/13) and progressive disease 7.7% (1/13). Median PFS for tumor progression and symptom recurrence were not reached, with a median follow up of 15.3 months and 21.0 months respectively. Symptomatic relief (partial or complete) was achieved in 96.9% (32/33) of patients. There was 1 major complication (2.4%). Conclusion: In this retrospectively identified cohort, cryoablation is effective and safe for local control of extra-abdominal desmoid tumors in short term follow up.

A 49-year-old woman presented to surgery outpatient clinic with the awareness of a right lower abdomen asymptomatic lump for one week. Contrast-enhanced CT of the abdomen demonstrated a 10×11×15 cm heterogeneous lesion anterior to the ileocecal junction with the possibility of leiomyosarcoma. The patient was prepared for laparotomy and intraoperative there was a large tumour arising from the medial wall of cecum. Right haemicolectomy was performed, and histopathology came as a desmoid tumour of the cecum. The patient had an uneventful postoperative course and is well on 1-year follow-up.

This study was aimed to delineate the clinicopathological features and determine the prognostic factors for recurrence-free survival (RFS) in abdominal desmoid tumors (ADTs) after macroscopic complete surgical resection.

This meta-analysis (PROSPERO CRD42018100653) uses individual patient data (IPD) to assess the association between recurrence and CTNNB1 mutation status in surgically treated adult desmoid-type fibromatosis (DTF) patients. A systematic literature search was performed on June 6th, 2018. Seven studies, describing retrospective cohorts were included and the IPD of 329 patients were used of whom 154 (46.8%) had a T41A mutation, 66 (20.1%) a S45F mutation, and 24 (7.3%) a S45P mutation, whereas 85 (25.8%) patients had a WT CTNNB1. Eighty-three patients (25.2%) experienced recurrence. Multivariable analysis, adjusting for sex, age, and tumor site yielded a P-value of 0.011 for CTNNB1 mutation. Additional adjustment for tumor size yielded a P-value of 0.082 with hazard ratio’s of 0.83 [95% confidence interval (CI) 0.48-1.42), 0.37 (95% CI 0.12-1.14), and 0.44 (95% CI 0.21-0.92) for T41A, S45P and WT DTF tumors compared to S45F DTF tumors. The effect modification between tumor size and mutation type suggests that tumor size is an important mediator for recurrence. Primary sporadic DTFs harboring a CTNNB1 S45F mutation have a higher risk of recurrence after surgery compared to T41A, S45P, and WT DTF, but this association seems to be mediated by tumor size.

Background: Desmoid type fibromatosis (DTF) is a rare benign neoplasm with infiltrative growth and high local recurrences. Due to long disease course, unpredictable growth pattern, and low mortality, using only survival outcomes may be inappropriate. In this study we assessed the impact of DTF on health related quality of life (HRQoL). Methods: This was a cross-sectional study done in patients with DTF. The study participants were asked to fill the EORTC QLQ-C30, GAD-7 and PHQ-9 questionnaires to assess HRQoL, anxiety and depression. Outcomes were also compared with healthy controls. Results: 204 subjects (102 DTF patients and 102 healthy controls) were recruited. Study parameters have been summarized in Table. Appendicular skeleton (limbs + girdle) was most commonly involved in 59 % patients and abdominal wall or mesentery was involved in 22.5 %. Patients have received median of 2 lines of therapy. 54 % patients were currently on sorafenib and 41 % were under active surveillance. Mean global health status in DTF patient 65.58 ± 22.64, was significantly lower than healthy controls. Similarly, DTF patients scored low on all functional scales except cognitive functioning. Symptom scale showed significantly higher symptom burden of fatigue, pain, insomnia and financial difficulties. Anxiety & depression was observed in 39.22 % and 50 % of DTF patients respectively. DTF patients had higher rates of mild, moderate and severe anxiety and depression compared to healthy controls. No difference was observed based on site of disease. Conclusions: DTF patients have significant symptom burden, poor functioning, and heightened anxiety and depression. Patient reported outcomes should be routinely used to assess treatment efficacy in DTF patients.

Background: Desmoid tumors are a benign sarcoma diagnosed in 4-5 patients per million each year. The Desmoid Tumor Research Foundation (DTRF) launched the patient registry and natural history study (NHS) in 2017. This is a retrospective analysis of diagnostic data collected, tumor location, rates of misdiagnosis, how genetics testing is being incorporated into clinical practice, and additional clinical trial participation. Methods: The NHS launched September 2017 and contains 15 surveys covering diagnostics, disease, treatment, care management, and quality of life. Current reporting as of December 31, 2020, contains 619 participants or legally authorized representatives for which a subset have completed the surveys on desmoid tumor diagnoses. Results: Survey analysis documents that the most prevalent tumor locations were intra-abdominal 35.5% (220), joint / extremities 21.2% (131), and chest wall 14.7% (91). The majority of participants, 68.2%, reported that they had unifocal tumors (199/292), 19.5% reported that they had multifocal desmoid tumors (57). Biopsy procedures were the primary method of diagnosis according to 57.2% (167/292) of the participants, with needle biopsy comprising 19.8% (33/167). Biopsy as the primary method of diagnosis was most prevalent in tumors of the head and neck (18/26, 69.2%), chest wall (32/47, 68.1%) joint /extremities (50/90, 55.6%), and abdominal tumors (27/51, 52.9%). Additionally, imaging methods (CT, MRI) were the primary method of diagnosis in 22.6% (66/292) and surgical resection 14.4% (42/292). Misdiagnosis is common for this tumor type, as 41.0% (119/290) participants reported an incorrect initial diagnosis. The reported incorrect diagnoses are described in the table. Genetic testing is not standard of care for desmoid tumors but is increasing in practice. A total of 78 participants (28%) of 282 participants report they had genetic testing (germline or somatic) of their tumor tissue. The majority of those participants, 65.4% (51/78), reported having Familial Adenomatous Polyposis (FAP). Of the participants that had genetic testing, 89.0% live in the United States. 10.5% of participants (37/353) have reported having participated in clinical trials. The majority of participants (317/368, 86.1%) are willing to participate in other studies in the future, with 77.4% (285/368) willing to donate specimens for biomarker studies. Conclusions: Participants with desmoid tumors report many methods of diagnosis for their diverse tumor locations, high rates of misdiagnosis, and increased rates of genetic mutation testing. Data collection through the DTRF NHS is ongoing.