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Longitudinal Natural History Study of Children and Adults with Rare Solid Tumors: Initial Results for First 200
Shadin Ahmed1, Mary Frances Wedekind1, Jaydira Del Rivero2
1Pediatric Oncology Branch, Center for Cancer Research, NCI, Bethesda, Maryland.
Abstract:
Understanding of tumor biology and identification of effective therapies is lacking for many rare tumors. My Pediatric and Adult Rare Tumor (MyPART) network was established to engage patients, advocates, and researchers and conduct a comprehensive longitudinal Natural History Study of Rare Solid Tumors. Through remote or in-person enrollment at the NIH Clinical Center, participants with rare solid tumors ≥4 weeks old complete standardized medical and family history forms, patient reported outcomes, and provide tumor, blood and/or saliva samples. Medical records are extracted for clinical status and treatment history, and tumors undergo genomic analysis. A total of 200 participants (65% female, 35% male, median age at diagnosis 43 years, range = 2-77) enrolled from 46 U.S. states and nine other countries (46% remote, 55% in-person). Frequent diagnoses were neuroendocrine neoplasms (NEN), adrenocortical carcinomas (ACC), medullary thyroid carcinomas (MTC), succinate dehydrogenase (SDH)-deficient gastrointestinal stromal tumors (sdGIST), and chordomas. At enrollment, median years since diagnosis was 3.5 (range = 0-36.6), 63% participants had metastatic disease and 20% had no evidence of disease. Pathogenic germline and tumor mutations included SDHA/B/C (sdGIST), RET (MTC), TP53 and CTNNB1 (ACC), MEN1 (NEN), and SMARCB1 (poorly-differentiated chordoma). Clinically significant anxiety was observed in 20%-35% of adults. Enrollment of participants and comprehensive data collection were feasible. Remote enrollment was critical during the COVID-19 pandemic. Over 30 patients were enrolled with ACC, NEN, and sdGIST, allowing for clinical/genomic analyses across tumors. Longitudinal follow-up and expansion of cohorts are ongoing to advance understanding of disease course and establish external controls for interventional trials.
Significance:
This study demonstrates that comprehensive, tumor-agnostic data and biospecimen collection is feasible to characterize different rare tumors, and speed progress in research. The findings will be foundational to developing external controls groups for single-arm interventional trials, where randomized control trials cannot be conducted because of small patient populations.
Insights
The MyPART network successfully collected comprehensive data and biospecimens from rare tumor patients, enabling tumor-agnostic research. This foundational work will help develop external control groups for rare cancer clinical trials.
Area of Science:
- Oncology
- Genetics
- Rare Diseases
Background:
- Limited understanding of rare tumor biology and effective therapies hinders progress.
- The MyPART network was established to address this gap by engaging patients and researchers.
- A comprehensive longitudinal Natural History Study of Rare Solid Tumors was initiated.
Purpose of the Study:
- To conduct a comprehensive, tumor-agnostic data and biospecimen collection for rare tumors.
- To characterize different rare tumors and accelerate research progress.
- To lay the foundation for developing external control groups for interventional trials in rare cancers.
Main Methods:
- Remote and in-person enrollment at the NIH Clinical Center for participants aged ≥4 weeks.
- Collection of standardized medical/family history, patient-reported outcomes, and tumor/blood/saliva samples.
- Extraction of medical records for clinical status and treatment history, alongside genomic analysis of tumors.
Main Results:
- 200 participants enrolled from diverse geographic locations, with frequent diagnoses including neuroendocrine neoplasms, adrenocortical carcinomas, and chordomas.
- Genomic analysis identified key mutations (e.g., SDHA/B/C, RET, TP53, CTNNB1, MEN1, SMARCB1) across various rare tumors.
- Feasible enrollment and data collection, with remote options proving critical during the COVID-19 pandemic. Significant anxiety observed in adults.
Conclusions:
- Comprehensive, tumor-agnostic data and biospecimen collection is feasible and accelerates rare tumor research.
- The study's findings are foundational for developing external control groups for single-arm interventional trials.
- Longitudinal follow-up and cohort expansion are ongoing to further advance understanding and treatment strategies for rare solid tumors.
