Research on Anal Squamous Cell Carcinoma

Anal canal and peri-anal squamous cell carcinomas (ASCCs) are relatively rare cancers that affect approximately 8000 patients per year in the United States [...]

NQPC-10 (Rare) Cancer patients’ unmet needs (patient-focused healthcare needs) survey

Background: Rare Cancers Japan (RCJ) consists of members of 20 rare cancer patient groups and individual rare cancer patients, including the Japan Brain Tumor Alliance (JBTA), the Pediatric Brain Tumor Network, and the DIPG Symposium Organizing Committee, and aims to solve the challenges of rare cancers. RCJ, together with the National Cancer Center Japan and the Japan Federation of Cancer Patient Groups is currently conducting a survey to clarify unmet needs of patients, as a follow-up survey to surveys conducted in 2018. Since then, a major paradigm shift happened in Japan, with the advent of genomic medicine and development of new treatments. This study plans to identify the latest unmet needs of cancer patients and to clarify the differences between cancer types to provide data for the improvement of healthcare systems.Purpose: Focusing on unmet needs of cancer patients, we conduct an online questionnaire survey of a total of 1,600 cancer patients (including brain tumor patients) regarding the following endpoints (1) detection and diagnosis, (2) treatment, (3) genomic medicine (access to genetic mutation testing), (4) clinical trials, (5) necessary information, medical care and support systems and (6) quality of life. The collected information will be analyzed to clarify the needs of patients and the nature of patient-centered healthcare. Method: The survey will be administered online, including a mix of open-ended and multiple-choice questions. The total number of questions, including respondent demographics, is 38, and the time required to answer them is expected to be between 15 and 20 minutes. Data analysis will take into account cancer type of cancer, gender, age group and region of residence of the respondent.Expected results: By February 2022, the results of the survey are expected to be available, as basis of discussion to improve brain tumor treatment and follow up, from a multidisciplinary perspective.

Clinical Utility of Circulating Tumor DNA in Advanced Rare Cancers

PurposePatients with advanced/relapsed rare cancers have few treatment options. Analysis of circulating tumor DNA in plasma may identify actionable genomic biomarkers using a non-invasive approach.Patients and MethodsRare cancer patients underwent prospective plasma-based NGS testing. Tissue NGS to test concordance was also conducted. Plasma DNA alterations were assessed for incidence, functional impact, therapeutic implications, correlation to survival, and comparison with tissue NGS.ResultsNinety-eight patients were analyzed. Diseases included soft-tissue sarcoma, ovarian carcinoma, and others. Mean turn-around-time for results was 9.5 days. Seventy-six patients had detectable gene alterations in plasma, with a median of 2.8 alterations/patient. Sixty patients had a likely pathogenic alteration. Five received matched-therapy based on plasma NGS results. Two developed known resistance mutations while on targeted therapy. Patients with an alteration having VAF ≥5% had a significantly shorter survival compared to those of lower VAF. Tissue NGS results from eleven of 22 patients showed complete or partial concordance with plasma NGS.ConclusionPlasma NGS testing is less invasive and capable of identifying alterations in advanced rare cancers in a clinically meaningful timeframe. It should be further studied as a prospective enrollment assay in interventional studies for patients with rare advanced stage cancers.Clinical Registration[https://www.umin.ac.jp/ctr/index-j.htm], identifier UMIN000034394.

Experiences of patients with cancer at health care facilities in Japan: results from a nationwide survey

Background To elucidate the experience of patients with cancer from diagnosis to early survivorship in Japan using a nationwide questionnaire survey, and to inform the current progress of the cancer control programs. Methods The survey was sent to a representative sample of adult patients with cancer identified from the national database of hospital-based cancer registries. The patients’ responses were compared across three groups: patients with rare cancers, patients aged < 40 years, and patients with non-rare cancers aged ≥40 years. Results Of 20,488 patients invited to participate in the survey, 8935 (43.6%) responded. Respondents reported an average score of 7.9 out of 10 on global ratings of care. Patients with rare cancers experienced a longer time to diagnosis but the shortest time from diagnosis to first treatment (p < 0.05). Patients aged < 40 years rated worse for the majority of the survey items, especially on items that related to communication with medical staff and items referring to early survivorship. Conclusion The care experienced by patients with cancer in Japan varies on the basis of age group and cancer type. Efforts should be directed to ensuring prompt access to diagnostic facilities for patients with rare cancers and providing sufficient support to younger patients.

The Role of lncRNAs in Rare Tumors with a Focus on HOX Transcript Antisense RNA (HOTAIR)

Rare cancers are identified as those with an annual incidence of fewer than 6 per 100,000 persons and includes both epithelial and stromal tumors from different anatomical areas. The advancement of analytical methods has produced an accurate molecular characterization of most human cancers, suggesting a “molecular classification” that has allowed the establishment of increasingly personalized therapeutic strategies. However, the limited availability of rare cancer samples has resulted in very few therapeutic options for these tumors, often leading to poor prognosis. Long non coding RNAs (lncRNAs) are a class of non-coding RNAs mostly involved in tumor progression and drug response. In particular, the lncRNA HOX transcript antisense RNA (HOTAIR) represents an emergent diagnostic, prognostic and predictive biomarker in many human cancers. The aim of this review is to highlight the role of HOTAIR in rare cancers, proposing it as a new biomarker usable in the management of these tumors.