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Rare tumors: a blue ocean of investigation

Shuhang Wang¹, Peiwen Ma¹, Ning Jiang¹

¹Clinical Trial Center, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100021, China.

Frontiers of Medicine

|May 15, 2023

Abstract:

Advances in novel drugs, therapies, and genetic techniques have revolutionized the diagnosis and treatment of cancers, substantially improving cancer patients' prognosis. Although rare tumors account for a non-negligible number, the practice of precision medicine and development of novel therapies are largely hampered by many obstacles. Their low incidence and drastic regional disparities result in the difficulty of informative evidence-based diagnosis and subtyping. Sample exhaustion due to difficulty in diagnosis also leads to a lack of recommended therapeutic strategies in clinical guidelines, insufficient biomarkers for prognosis/efficacy, and inability to identify potential novel therapies in clinical trials. Herein, by reviewing the epidemiological data of Chinese solid tumors and publications defining rare tumors in other areas, we proposed a definition of rare tumor in China, including 515 tumor types with incidences of less than 2.5/100 000 per year. We also summarized the current diagnosis process, treatment recommendations, and global developmental progress of targeted drugs and immunotherapy agents on the status quo. Lastly, we pinpointed the current recommendation chance for patients with rare tumors to be involved in a clinical trial by NCCN. With this informative report, we aimed to raise awareness on the importance of rare tumor investigations and guarantee a bright future for rare tumor patients.

Insights

Rare tumors present diagnostic and therapeutic challenges due to low incidence. This study defines rare tumors in China and reviews current progress in diagnosis, treatment, and clinical trial opportunities for these cancers.

Area of Science:

Oncology
Epidemiology
Genetics

Background:

Novel therapies have improved cancer care, but rare tumors face significant obstacles.
Low incidence and regional disparities hinder evidence-based diagnosis and treatment development for rare cancers.
Challenges include diagnostic difficulties, sample exhaustion, lack of clinical guidelines, and insufficient biomarkers.

Purpose of the Study:

To propose a definition for rare tumors in China.
To review the current landscape of rare tumor diagnosis, treatment, and drug development.
To highlight clinical trial opportunities for rare tumor patients.

Main Methods:

Reviewed epidemiological data of Chinese solid tumors.
Analyzed publications defining rare tumors globally.
Summarized current diagnostic processes and treatment recommendations.
Assessed global progress in targeted drugs and immunotherapy for rare tumors.
Examined National Comprehensive Cancer Network (NCCN) guidelines for clinical trial recommendations.

Main Results:

Proposed a definition of rare tumors in China, encompassing 515 tumor types with an incidence < 2.5/100,000 per year.
Detailed the current diagnostic and treatment status for rare tumors.
Summarized advancements in targeted therapies and immunotherapies.
Identified opportunities for rare tumor patients to participate in clinical trials.

Conclusions:

Establishing a clear definition is crucial for advancing rare tumor research in China.
Comprehensive review highlights progress and unmet needs in rare tumor care.
Increased awareness and research are vital for improving outcomes for rare tumor patients.

Read full analysis

Keywords:

clinical trials recommendation diagnosis flowchart rare tumors treatment strategy

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