Health-related quality of life (HRQoL), anxiety, and depression in patients with desmoid type fibromatosis.

INTRODUCTION: Data on the impact of desmoid type fibromatosis (DTF) on emotional distress and health-related quality of life (HRQoL) is sparse. METHODOLOGY: In this prospective cross-sectional study, patients with DTF and healthy controls were asked to fill the EORTC QLQ-C30, GAD-7, and PHQ-9 questionnaires. The objectives were to determine HRQoL, anxiety, and depression in patients with DTF. RESULTS: Two hundred four subjects (102 DTF patients and 102 healthy controls) were recruited. The median age of DTF patients at recruitment into the study was 31 years (IQR, 25-37 years). There was a female preponderance with a male:female ratio of 1:1.83. Appendicular skeleton and abdomen sites were most commonly involved in 59% and 22.5% respectively. About half (54%) of patients were currently on sorafenib and 41% were under active surveillance. The mean global health status in DTF patients was 65.58 ± 22.64, significantly lower than healthy controls. Similarly, DTF patients scored low on all functional scales except cognitive functioning. The symptom scale showed a significantly higher symptom burden of fatigue, pain, insomnia, and financial difficulties. Anxiety and 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. CONCLUSION: DTF patients have significant symptom burden, poor functioning, and heightened anxiety and depression as compared to healthy controls. HRQoL, anxiety, and depression should be routinely used to assess symptom burden and treatment efficacy in DTF patients.

High prevalence of persistent emotional distress in desmoid tumor.

OBJECTIVE: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.

Prospective development of a patient-reported outcomes instrument for desmoid tumors or aggressive fibromatosis.

BACKGROUND: 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). METHODS: 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. RESULTS: 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. CONCLUSIONS: This is the first disease-specific PRO instrument developed for desmoid tumors. The instrument is available as an exploratory endpoint in clinical trials. This study highlights the feasibility and challenges of developing PRO instruments for rare diseases.

Desmoid fibromatosis through the patients' eyes: time to change the focus and organisation of care?

PURPOSE: Desmoid fibromatosis (DF) is a rare, unpredictable disease with no established, evidence-based treatments. Individual management is based on consensus algorithms. This study aimed to examine the specific health-related quality of life challenges faced by DF patients, current experiences and expectations of care. METHODS: Twenty-seven DF patients were purposively sampled from The Royal Marsden Hospital. Two focus groups and 13 interviews (males 12, females 15; mean age at study 39.5 years) explored health-related quality of life issues and experiences of healthcare. Thematic content was analysed. RESULTS: Discussions revealed four key themes (diagnostic pathway; treatment pathway; living with DF; supportive care). Diagnostic delay resulted from lack of recognition by patients and healthcare professionals. Some patients received an initial diagnosis of cancer, causing significant distress. Treatment decisions were challenging, and patients experienced uncertainty among clinicians about optimal therapies. Side-effects of treatment were severe, including fatigue, nausea, anorexia, low libido and depression. Pain was the most debilitating symptom and dependency on painkillers was a significant concern. Functional limitation and restricted mobility frequently affected daily activities. Patients experienced difficulty accomplishing their role in society; relationship problems, caring for children, employment and financial difficulties. Social isolation and lack of understanding were common. The psychological impact of this "life-changing and life-long" condition was profound. All patients requested knowledgeable healthcare professionals, more information, continuity of care and peer support. CONCLUSIONS: DF patients face complex physical, psychological and practical challenges. Comprehensive care services are needed. Increasing awareness may help to improve diagnostic pathways and overall patient experience.

Identification and assessment of health-related quality of life issues in patients with sporadic desmoid-type fibromatosis: a literature review and focus group study.

PURPOSE: Sporadic desmoid-type fibromatosis (DTF) is a rare, chronic, non-metastasising, disease of the soft tissues. It is characterised by local invasive and unpredictable growth behaviour and a high propensity of local recurrence after surgery thereby often having a great impact on health-related quality of life (HRQL). This study aims to review currently used HRQL measures and to asses HRQL issues among DTF patients. METHODS: A mixed methods methodology was used consisting of (1) a systematic literature review, according to the PRISMA guidelines (2009), using search terms related to sporadic DTF and HRQL in commonly used databases (e.g. Embase, Medline Ovid, Web of science, Cochrane Central, Psyc Info, and Google scholar), to provide an overview of measures previously used to evaluate HRQL among DTF patients; (2) focus groups to gain insight into HRQL issues experienced by DTF patients. RESULTS: The search strategy identified thirteen articles reporting HRQL measures using a wide variety of cancer-specific HRQL tools, functional scores, symptom scales (e.g. NRS), and single-item outcomes (e.g. pain and functional impairment). No DTF-specific HRQL tool was found. Qualitative analysis of three focus groups (6 males, 9 females) showed that participants emphasised the negative impact of DTF and/or its treatment on several HRQL domains. Six themes were identified: (1) diagnosis, (2) treatment, (3) follow-up and recurrence, (4) physical domain, (5) psychological and emotional domain, and (6) social domain. CONCLUSION: A DTF-specific HRQL tool and consensus regarding the preferred measurement tool among DTF patients is lacking. Our study indicates that HRQL of DTF patients was negatively affected in several domains. A DTF-specific HRQL measure could improve our understanding of short- and long-term effects and, ideally, can be used in both clinic and for research purposes.

Reinserção psicossocial de paciente jovem através de desarticulação interescápulo torácica e hemitoracectomia / Psychosocial rehabilitation of a young patient through interscapular thoracic disarticulation and hemithoracectomy

Na era das cirurgias minimamente invasivas, parece controverso advogar grandes operações. Entretanto, ainda há espaço para grandes intervenções oncológicas. É relatado caso de paciente de 23 anos de idade portador de tumor desmoide em hemitórax direito, com deformidade e erosão de arcos costais, atelectasia parcial do pulmão ipsilateral, compressão e desvio contralateral do mediastino, invasão de nervos do plexo braquial, vasos subclávios e pleura apical direita. Realizada toracectomia, ressecção de tumor em mediastino, amputação do membro superior direito, escapulectomia e reconstrução da parede torácica com tela de márlex e metilmetacrilato e confecção de retalho fasciocutâneo. O paciente encontra-se em seguimento ambulatorial com suas funções diárias quase recuperadas, limitado apenas nas atividades que envolviam o membro desarticulado. Em casos selecionados devem ser consideras grandes intervenções com o objetivo de ressecção R0 (ressecção com margens cirúrgicas livres) e melhora na qualidade de vida, atentando-se sempre para a ressocialização.

In the era of minimally invasive surgery, advocating large operations seems controversial. However, there is still room for major oncologic interventions. This is report of a 23 yearold patient with desmoid tumor in the right hemithorax, deformed and eroded ribs, ipsilateral lung partial atelectasis, contralateral mediastinal compression and shift, invasion ofnerves in the brachial plexus, subclavian vessels and right apical pleura. Thoracectomy was performed with resection of the tumor in the mediastinum, right upper limb amputation, scapulectomy, and chest wall reconstruction with methylmethacrylate and marlex screen, and use of a fasciocutaneous flap. The subject is in follow up as an outpatient andhas almost recovered his daily functions, which are now limited only for activities involving the inarticulate member. Selected cases should be considered for major interventions with aiming at R0 resection (resection with free surgical margins) and improved quality of life, always bearing in mind the need for rehabilitation and socialization.

Quality of life in adults diagnosed with familial adenomatous polyposis and desmoid tumor.

PURPOSE: The purpose of this study was to examine the health-related quality of life in a sample of Canadian adults diagnosed with familial adenomatous polyposis and desmoid tumor. METHODS: The study was conducted in two parts. Seven individuals participated in a focus group prior to a mail-out survey. A cross-sectional mail-out survey was administered to eligible individuals who were actively followed at the Familial Gastrointestinal Cancer Registry at Mount Sinai Hospital. RESULTS: Forty-one individuals (25 female and 16 male) were available to be contacted by the registry coordinator and 23 questionnaire packages were completed, resulting in a 56.1 percent participation rate. The results of this study demonstrated a reduced health-related quality of life for individuals living with familial adenomatous polyposis and desmoid tumor for over 10 years. The main predictors of health-related quality of life in this analysis included marital status (married vs. not married), prior knowledge of desmoid tumor in the family, and current level of hopelessness (R(2) = 0.856, df = 13, F = 26.8, P < 0.001). The qualitative content analysis of themes from the focus group indicated that ongoing medical uncertainty and lack of information from health care professionals, isolation, and family communication were the main challenges in living with desmoid tumors. CONCLUSIONS: The findings from this study suggest that ongoing education of health care professionals is warranted and that information and support interventions may be beneficial to this clinical population.