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

Abstract

PurposeSporadic 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.MethodsA 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.ResultsThe 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.ConclusionA 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.

Desmoid-Type Fibromatosis

“…In addition, they are susceptible to periods of anxiety from diagnosis and during treatment due to uncertainty about therapeutic options [ 67 , 68 ]. Recently there has been a greater interest in the subject, and it is reflected in the creation of different organizations such as The Desmoid Tumor Research Foundation in the United States and the creation of patient advocacy groups in various institutions and social media [ 69 , 70 ]. Many of the series presented in this review revealed that pain might be a common indication for patients undergoing active surveillance to shift to a more aggressive treatment strategy namely surgery, systemic treatment or radiotherapy; therefore, it is strongly encouraged to keep in mind that since it is a benign tumor, it would be reasonable to measure a symptom-free survival period instead of progression free survival.…”

Assessing the Desmoid-Type Fibromatosis Patients’ Voice: Comparison of Health-Related Quality of Life Experiences from Patients of Two Countries

“…Health-related quality of life (HRQoL) provides information beyond traditional measures of efficacy in oncology such as overall survival and is increasingly used as an endpoint in clinical trials [10,11]. We previously performed a systematic literature review to evaluate which HRQoL measures were used in research to assess HRQoL in DTF [12]. Generic HRQoL measures (e.g., the cancer-specific core questionnaire from European Organisation for Research and Treatment of Cancer; the EORTC Quality of Life Core Questionnaire (EORTC QLQ-C30)) may not consider disease-specific issues in DTF patients.…”

“…At present, there is no validated DTF-specific HRQoL tool, and this was illustrated by a systematic literature review published by our group [12,13]. In order to gain greater insight into the issues that patients with DTF experience in their daily lives, and to evaluate their experiences of healthcare including the supportive care system, we previously organised focus groups and semistructured interviews, in the United Kingdom (UK) and in the Netherlands (NL) [12,13].…”

“…At present, there is no validated DTF-specific HRQoL tool, and this was illustrated by a systematic literature review published by our group [ 12 , 13 ]. In order to gain greater insight into the issues that patients with DTF experience in their daily lives, and to evaluate their experiences of healthcare including the supportive care system, we previously organised focus groups and semistructured interviews, in the United Kingdom (UK) and in the Netherlands (NL) [ 12 , 13 ]. These studies identified issues covering various domains including the diagnostic pathway, the treatment pathway, daily limitations (e.g., physical and psychological symptoms), and experiences with the current healthcare system.…”

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

“…We sought to prospectively develop a novel regulatory and clinical trial endpoint to characterize the subjective experience in patients with DTs, an ultrarare cancer. Although a recent review indicated the need for a health‐related quality of life (HRQOL) tool for patients with DTs, an important step in the regulatory context is to ensure that the PRO measure is uniquely developed for DTs to complement existing HRQOL instruments such as the European Organisation for Research and Treatment of Cancer Quality of Life Questionnaire Core 30, the Patient‐Reported Outcomes Measurement Information System, and the MD Anderson Symptom Inventory, which are not specific to a disease or condition. We sought to develop a PRO tool that captures desmoid‐related symptoms and impacts in accordance with the 2009 guidance for industry from the US Food and Drug Administration (FDA): Patient‐Reported Outcome Measures: Use in Medical Product Development to Support Labeling…”