Statistical genomics in rare cancer

Background: Despite Government investment, disparity in access to clinical trials continue between metropolitan and regional & rural sectors (RRR) in Australia and around the world. To improve trial access closer to home for RRR communities and rare cancer patients even in metro settings, the Australasian Teletrial Model (ATM) was developed by Clinical Oncology Society of Australia and implemented in four states. Aim of this paper is to describe the steps and processes involved in the development and implementation of ATM guided by implementation science frameworks. Method: Two implementation science frameworks namely iPARIHS and Strategic Implementation Framework were chosen to guide the project. Details of steps and processes were extracted from COSA final report. Results: ATM met the criteria for worthy innovation. For the development and implementation of the ATM, stakeholders were at national, statewide and clinical levels. A co-design with end-users and inclusion of key stakeholders in steering committees and advisory groups made the implementation smoother. Clinician levers including advocacy were useful to overcome system barriers. During the project, more patients, and clinicians at RRR participated in trials, more primary sites collaborated with RRR sites and more RRR sites gained trial capabilities. Conclusion: Pilot project achieved its objectives including improved access to patients locally, creation of linkages between metro and RRR sites and enhanced capabilities of and access to RRR sites. Implementation science frameworks were useful for identifying the necessary steps and processes at the outset. Ownership by governments and creation of streamlined regulatory systems would enable broader adoption.

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Diagnosed with a Rare Cancer: Experiences of Adult Sarcoma Survivors with the Healthcare System—Results from the SURVSARC Study

Cancers ◽

10.3390/cancers13040679 ◽

2021 ◽

Vol 13 (4) ◽

pp. 679

Author(s):

Cas Drabbe ◽

Dirk J. Grünhagen ◽

Winan J. Van Houdt ◽

Pètra M. Braam ◽

Vicky L. M. N. Soomers ◽

...

Keyword(s):

Supportive Care ◽

Healthcare System ◽

Support Groups ◽

Information Needs ◽

Age Groups ◽

Satisfaction With Care ◽

Rare Cancer ◽

Questionnaire Response ◽

Care Information ◽

Diagnostic Intervals

The aim of this study was to explore the experience of rare cancer patients with the healthcare system and examine differences between age groups (adolescents and young adults (AYA, 18–39 years), older adults (OA, 40–69 years) and elderly (≥70 years)). Dutch sarcoma patients, 2–10 years after diagnosis, completed a questionnaire on their experience with the healthcare system, satisfaction with care, information needs, patient and diagnostic intervals (first symptom to first doctor’s visit and first doctor’s visit to diagnosis, respectively) and received supportive care. In total, 1099 patients completed the questionnaire (response rate 58%): 186 AYAs, 748 OAs and 165 elderly. Many survivors experienced insufficient medical and non-medical guidance (32% and 38%), although satisfaction with care was rated good to excellent by 94%. Both patient and diagnostic intervals were >1 month for over half of the participants and information needs were largely met (97%). AYAs had the longest patient and diagnostic intervals, experienced the greatest lack of (non-)medical guidance, had more desire for patient support groups and used supportive care most often. This nationwide study among sarcoma survivors showed that healthcare experiences differ per age group and identified needs related to the rarity of these tumors, such as improvements concerning (non-)medical guidance and diagnostic intervals.

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Left Alone After a Rare Cancer Diagnosis

Narrative Inquiry in Bioethics ◽

10.1353/nib.2020.0060 ◽

2020 ◽

Vol 10 (3) ◽

pp. 188-190

Author(s):

Mariana Coutinho

Keyword(s):

Cancer Diagnosis ◽

Rare Cancer

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Radiomics analysis for predicting pembrolizumab response in patients with advanced rare cancers

Journal for ImmunoTherapy of Cancer ◽

10.1136/jitc-2020-001752 ◽

2021 ◽

Vol 9 (4) ◽

pp. e001752

Author(s):

Rivka R Colen ◽

Christian Rolfo ◽

Murat Ak ◽

Mira Ayoub ◽

Sara Ahmed ◽

...

Keyword(s):

Partial Response ◽

Stable Disease ◽

Progressive Disease ◽

Tumor Response ◽

Complete Response ◽

Classification Model ◽

P Value ◽

Rare Cancer ◽

Rare Cancers ◽

Contrast Enhanced Ct

BackgroundWe present a radiomics-based model for predicting response to pembrolizumab in patients with advanced rare cancers.MethodsThe study included 57 patients with advanced rare cancers who were enrolled in our phase II clinical trial of pembrolizumab. Tumor response was evaluated using Response Evaluation Criteria in Solid Tumors (RECIST) 1.1 and immune-related RECIST (irRECIST). Patients were categorized as 20 “controlled disease” (stable disease, partial response, or complete response) or 37 progressive disease). We used 3D-slicer to segment target lesions on standard-of-care, pretreatment contrast enhanced CT scans. We extracted 610 features (10 histogram-based features and 600 second-order texture features) from each volume of interest. Least absolute shrinkage and selection operator logistic regression was used to detect the most discriminatory features. Selected features were used to create a classification model, using XGBoost, for the prediction of tumor response to pembrolizumab. Leave-one-out cross-validation was performed to assess model performance.FindingsThe 10 most relevant radiomics features were selected; XGBoost-based classification successfully differentiated between controlled disease (complete response, partial response, stable disease) and progressive disease with high accuracy, sensitivity, and specificity in patients assessed by RECIST (94.7%, 97.3%, and 90%, respectively; p<0.001) and in patients assessed by irRECIST (94.7%, 93.9%, and 95.8%, respectively; p<0.001). Additionally, the common features of the RECIST and irRECIST groups also highly predicted pembrolizumab response with accuracy, sensitivity, specificity, and p value of 94.7%, 97%, 90%, p<0.001% and 96%, 96%, 95%, p<0.001, respectively.ConclusionOur radiomics-based signature identified imaging differences that predicted pembrolizumab response in patients with advanced rare cancer.InterpretationOur radiomics-based signature identified imaging differences that predicted pembrolizumab response in patients with advanced rare cancer.

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GYNOCARE Update: Modern Strategies to Improve Diagnosis and Treatment of Rare Gynecologic Tumors—Current Challenges and Future Directions

Cancers ◽

10.3390/cancers13030493 ◽

2021 ◽

Vol 13 (3) ◽

pp. 493

Author(s):

Riccardo Di Fiore ◽

Sherif Suleiman ◽

Bridget Ellul ◽

Sharon A. O’Toole ◽

Charles Savona-Ventura ◽

...

Keyword(s):

Cancer Research ◽

Gynecological Cancer ◽

Gynecologic Cancer ◽

Delayed Diagnosis ◽

Research Programme ◽

Basic Research ◽

Diagnosis And Treatment ◽

Rare Cancer ◽

Cost Action ◽

Gynecologic Tumors

More than 50% of all gynecologic tumors can be classified as rare (defined as an incidence of ≤6 per 100,000 women) and usually have a poor prognosis owing to delayed diagnosis and treatment. In contrast to almost all other common solid tumors, the treatment of rare gynecologic tumors (RGT) is often based on expert opinion, retrospective studies, or extrapolation from other tumor sites with similar histology, leading to difficulty in developing guidelines for clinical practice. Currently, gynecologic cancer research, due to distinct scientific and technological challenges, is lagging behind. Moreover, the overall efforts for addressing these challenges are fragmented across different European countries and indeed, worldwide. The GYNOCARE, COST Action CA18117 (European Network for Gynecological Rare Cancer Research) programme aims to address these challenges through the creation of a unique network between key stakeholders covering distinct domains from concept to cure: basic research on RGT, biobanking, bridging with industry, and setting up the legal and regulatory requirements for international innovative clinical trials. On this basis, members of this COST Action, (Working Group 1, “Basic and Translational Research on Rare Gynecological Cancer”) have decided to focus their future efforts on the development of new approaches to improve the diagnosis and treatment of RGT. Here, we provide a brief overview of the current state-of-the-art and describe the goals of this COST Action and its future challenges with the aim to stimulate discussion and promote synergy across scientists engaged in the fight against this rare cancer worldwide.

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“We’re on a Merry-Go-Round”: Reflections of Patients and Carers after Completing Treatment for Sarcoma

Current Oncology ◽

10.3390/curroncol28040263 ◽

2021 ◽

Vol 28 (4) ◽

pp. 3003-3014

Author(s):

Rhys Weaver ◽

Moira O’Connor ◽

Richard Carey Smith ◽

Dianne Sheppard ◽

Georgia K. B. Halkett

Keyword(s):

Social Constructionist ◽

Rare Cancer ◽

Family Carers ◽

Structured Interviews ◽

Qualitative Research Design ◽

Previously Treated ◽

Sarcoma Treatment ◽

Silver Lining

Sarcoma is a rare cancer that has a significant impact on patients’ and carers’ quality of life. Despite this, there has been a paucity of research exploring the diverse experiences of patients and carers following sarcoma treatment. The aim of this study was to explore patients’ and carers’ reflections on life after treatment for sarcoma. A qualitative research design with a social constructionist epistemology was used. Participants included patients previously treated for sarcoma (n = 21) and family carers of patients treated for sarcoma (n = 16). Participants completed semi-structured interviews which were analysed using thematic analysis. Three primary themes were identified: “This journey is never going to be over”, “But what happens when I am better?”, and finding a silver lining. Participants represented sarcoma as having a long-term, and sometimes indefinite, threat on their life that they had limited control over. Conclusions: This study highlight the heterogeneous and ongoing needs of sarcoma survivors and their families. Patients and carers strove to translate their experiences in a meaningful way, such as by improving outcomes for other people affected by sarcoma. Parental carers in particular attempted to protect the patient from the ongoing stress of managing the disease.

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