High Prevalence of Persistent Emotional Distress in Desmoid Tumor

Clinical experience suggests a high prevalence of emotional distress in patients with desmoid tumor (DT). We examine longitudinal Distress Assessment and Response Tool (DART) scores to estimate prevalence and persistence of distress, and compare cross sectional data between DT and malignant sarcoma cohorts, to identify predictors of distress. Patients with DT completed DART at: T1- diagnosis, T2- during, T3- <6 months and T4- ≥6 months, post-treatment. DART includes patient-reported outcome measures of physical symptoms (ESAS-r), depression (PHQ-9), anxiety (GAD-7) and social difficulties (SDI-21). Descriptive prevalence and persistence of anxiety, depression and wellbeing are reported, and mixed model regression analyses determine predictors of distress. Between 2012 and 2018, a total of 152 DART screens from 94 patients with DT were completed- (T1: n=44, T2: n=31, T3: n=22, T4: n=55). Patients had a mean age 40 years, 78% were female and DT locations were abdominal wall (48%), extremity (30%) and mesentery (22%). Moderate to severe ESAS-r scores (≥4) persisted at T4 for anxiety (20%), depression (13%) and poor wellbeing (31%). Compared to 402 patients with malignant sarcoma, patients with abdominal wall sited DT reported severe PHQ-9 and GAD-7 scores twice as frequently. Abdominal wall location, female sex, history of mood problems and psychosocial concerns were significant predictors of anxiety, depression and poor wellbeing in DT. Adults with DT experience persistently high emotional distress compared to patients with malignant sarcoma. Women with abdominal wall DT, prior mood and current psychosocial concerns need early attention within multidisciplinary treatment settings to reduce persistent distress.

Retroperitoneal desmoid-type fibromatosis (RPDF) is a rare mesenchymal neoplasm, and it covers a broad spectrum of aggressive monoclonal, fibroblastic proliferation. There is no evidence-based or established optimal treatment available for this intriguing disease yet. Therefore, we here investigated the clinicopathological characteristics, surgical, and survival outcomes in RPDF among Chinese patients. Patients with histologically confirmed RPDF were retrospectively studied from 2010 to 2018 within the West China Hospital of Sichuan University. Demographics, clinicopathological characteristics, treatment, and survival outcome data were collected. Of the 29 cases of RPDF, 19 were females. Tumor diameter ranged from 4 to 40 cm, with a median of 10 cm. Of these patients, surgical resection was the primary treatment adopted for RPDF in 26 cases; while 3 patients underwent watchful waiting. In surgical group, complete and incomplete macroscopic resection was achieved in 21 (80.77%) and 6 (19.23%) cases, respectively. Totally, 21 (80.77%) cases underwent multi-visceral resection. With a median follow-up duration of 48 months, 11 patients experienced tumor progression for the entire cohort. Tumor progression was observed for those patients with incomplete and complete macroscopic resection in 2/5 (40.0%) and 6/21 (28.6%) cases, respectively. In the watchful waiting group, there were no documented cases of RPDF regression. The progression-free survival rate was 86.1%, 71.5%, and 62.3% at 1-, 2-, and 3-years, respectively.RPDFs are rare types of tumor, which have characteristically varied natural histories. Surgical resection had a relative favorable outcome, but some patients were associated with burden of significant surgical complications.

Desmoid tumors (or aggressive fibromatosis) are locally infiltrative connective-tissue tumors that can arise in any anatomic location; they can be asymptomatic, or they can result in pain, deformity, swelling, and loss of mobility and/or threaten visceral organs with bowel perforation, hydronephrosis, neurovascular damage, and other complications. Existing clinical trial endpoints such as the Response Evaluation Criteria in Solid Tumors (version 1.1) and progression-free survival are inadequate in capturing treatment efficacy. This study was designed to develop a novel clinical trial endpoint by capturing patient-reported outcomes (PROs). Following best practices in qualitative methodology, this study used concept elicitation (CE) interviews to explore desmoid patients’ perspectives on key disease-related symptoms and impacts. Qualitative analysis was performed to determine the relative frequency and disturbance of symptoms and impacts as well as other characteristics of these concepts. A draft PRO scale was then developed and tested with cognitive interviewing. Information from the interviews was subsequently incorporated into the refined PRO scale. CE interviews with desmoid patients (n = 31) helped to identify salient concepts and led to a draft scale that included symptom and impact scales. Cognitive interviews were completed with additional patients (n = 15) across 3 phases. Patient input was used to refine instructions, revise and/or remove items, and modify the response scale. This resulted in an 11-item symptom scale and a 17-item impact scale. This is the first disease-specific PRO instrument developed for desmoid tumors.

This study evaluated outcomes in patients with desmoid-type fibromatosis managed at a Canadian institution over two decades. Records of 227 patients with desmoid-type fibromatosis referred from 1990 to 2013 were retrospectively reviewed to investigate management strategies including active surveillance, surgery, radiation therapy, cryoablation, and systemic therapy, including tamoxifen and chemotherapy. Thirty-two per cent of cases were men, median age 40 years, median tumour size 5.4 cm. Initial treatments were surgery (79%), tamoxifen (13%), radiation therapy (5.0%), chemotherapy (1.8%) and cryoablation (1.2%). Active surveillance was used upfront in 26% of cases, most after 2005. At a median follow-up of 77 months, one patient died of disease, 13 died of unrelated causes and the remainder were alive with no evidence of disease (56%), stable/responding disease (33%) or progressive disease (4%). The recurrence rate was 25% after upfront surgery. Response rates and disease control rates were 40% and 76% for active surveillance; 68% and 96% for radiation therapy; 31% and 67% for tamoxifen; and 53% and 80% for chemotherapy. On univariable analysis, factors associated with a higher recurrence after initial surgery were young age (P = 0.012), male gender (P = 0.012) and extremity location (P = 0.005). On multivariable analysis, only young age was significantly associated with recurrence risk (P = 0.010). Active surveillance was associated with spontaneous regression and long-term disease control consistent with other studies. Primary radiation therapy appeared to provide a similar response and disease control compared with systemic treatments and may be a viable option for patients who are not candidates for surgery or active surveillance.

Bone sarcomas are rare tumors arising in bone, representing only a small fraction of solid malignant tumors. Desmoids are benign, infiltrative soft tissue neoplasms. Because of their scarcity and a paucity of data, the management of these tumors can be challenging, especially for clinicians who infrequently encounter these tumors. This article reviews the current literature regarding the diagnosis, work-up, and treatment of these uncommon mesenchymal tumors.

Desmoid tumors are locally invasive sarcoma, affecting 5–6 individuals out of 1,000,000 per year. The desmoid tumors have high rates of recurrence after resection and can lead to significant deterioration of the quality of life of patients. There is a need for a better understanding of the desmoid tumors’ patient experience from first symptoms through diagnosis, disease monitoring, and clinical treatment options. With the National Organization of Rare Disorders, the Desmoid Tumor Research Foundation Natural History Study was designed to be collected through the registry. This article describes the protocol for the Desmoid Tumor Research Foundation Natural History Study and some initial findings. The Desmoid Tumor Research Foundation Natural History Study Advisory Committee developed a series of questionnaires and longitudinal surveys, in addition to those from the National Organization of Rare Disorders for all of the rare diseases. These 13 surveys are designed to uncover initial symptoms, diagnosis process, disease monitoring, quality of life, treatments, as well as socioeconomic information. Since launching the Desmoid Tumor Research Foundation Registry and Natural History Study (https://dtrf.iamrare.org), more than 300 desmoid tumor patients have consented to the Desmoid Tumor Research Foundation Natural History Study and completed the Participant Profile. The majority of the respondents are between the ages of 21 and 50years (76%), female (81.2%), White (91.5%), and live in the United States (47.1%). The majority of tumors are in the lower or upper extremity, (22.9%) followed closely by abdominal desmoid tumors (21.5%). Most are willing to donate specimens (89.9%) and participate in trials (97.2%). Ongoing efforts are addressing the demographic differences between the respondents and non-respondents and any selection bias based on access to the registry and study. The Desmoid Tumor Research Foundation Natural History Study is built on the largest desmoid tumors registry and has recruited more desmoid tumors participants since launching in September 2017. It will serve to fill desmoid tumors knowledge gaps and assist other researchers in their recruitment efforts for additional studies.