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It also summarizes recent therapeutic innovations such as immunotherapy, targeted therapy, transplantation, and combination drug strategies.",{"@graph":14,"@context":73},[15,34,56],{"@type":16,"itemListElement":17},"BreadcrumbList",[18,23,27,31],{"item":19,"name":20,"@type":21,"position":22},"https://docshare.wps.com","Home","ListItem",1,{"item":24,"name":25,"@type":21,"position":26},"https://docshare.wps.com/document/","Document",2,{"item":28,"name":29,"@type":21,"position":30},"https://docshare.wps.com/document/healthcare/","Healthcare",3,{"item":32,"name":10,"@type":21,"position":33},"https://docshare.wps.com/document/an-overview-of-advances-in-rare-cancer-diagnosis-and-treatment/326790/",4,{"url":32,"name":10,"@type":35,"image":36,"author":41,"headline":10,"publisher":44,"fileFormat":47,"inLanguage":8,"description":12,"dateModified":48,"datePublished":49,"encodingFormat":47,"isAccessibleForFree":50,"interactionStatistic":51},"DigitalDocument",{"url":37,"@type":38,"width":39,"height":40},"https://docshare.wps.com/thumbnails/an-overview-of-advances-in-rare-cancer-diagnosis-and-treatment/326790.png","ImageObject",300,407,{"name":42,"@type":43},"Logic","Person",{"url":19,"name":45,"@type":46},"DocShare","Organization","application/pdf","2026-10-22","2026-09-21",true,{"@type":52,"interactionType":53,"userInteractionCount":55},"InteractionCounter",{"@type":54},"ViewAction",8,{"@type":57,"mainEntity":58},"FAQPage",[59,65,69],{"name":60,"@type":61,"acceptedAnswer":62},"How many rare cancer subtypes are discussed, and why is diagnosis challenging?","Question",{"text":63,"@type":64},"The review states that rare cancers include 230 distinct subtypes with infrequent incidence. 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An Overview of Advances in Rare Cancer Diagnosis and Treatment. Int. J. Mol. Sci. 2024, 25, 1201. [https://doi.org/10.3390/](https://doi.org/10.3390/)[ ](https://doi.org/10.3390/)ijms25021201  \nAcademic Editor: Mara Cirone  \nReceived: 1 December 2023  \nRevised: 11 January 2024  \nAccepted: 17 January 2024  \nPublished: 18 January 2024  \nCopyright: © 2024 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license ([https://](https://)[ ](https://)[creativecommons.org/licenses/by/](creativecommons.org/licenses/by/)[ ](creativecommons.org/licenses/by/)[4.0/](4.0/)) .  \nDepartment of Integrated Biomedical Science, Soonchunhyang Institute of Medi-Bio Science (SIMS), Soonchunhyang University, Cheonan 31151, Chungcheongnam-do, Republic of Korea;  \n[gchristyani4869@gmail.com](gchristyani4869@gmail.com) (G.C.); [matthewcarswell020518@gmail.com](matthewcarswell020518@gmail.com) (M.C.)  \n* Correspondence: [sisiq@sch.ac.kr](sisiq@sch.ac.kr) (S.Q.); [wootaek@sch.ac.kr](wootaek@sch.ac.kr) (W.K.)† These authors contributed equally to this work.  \nAbstract: Cancer stands as the leading global cause of mortality, with rare cancer comprising 230 distinct subtypes characterized by infrequent incidence. Despite the inherent challenges in addressing the diagnosis and treatment of rare cancers due to their low occurrence rates, several biomedical breakthroughs have led to significant advancement in both areas. This review provides a comprehensive overview of state-of-the-art diagnostic techniques that encompass new-generation sequencing and multi-omics, coupled with the integration of artificial intelligence and machine learning, that have revolutionized rare cancer diagnosis. In addition, this review highlights the latest innovations in rare cancer therapeutic options, comprising immunotherapy, targeted therapy, transplantation, and drug combination therapy, that have undergone clinical trials and significantly contribute to the tumor remission and overall survival of rare cancer patients. In this review, we summarize recent breakthroughs and insights in the understanding of rare cancer pathophysiology, diagnosis, and therapeutic modalities, as well as the challenges faced in the development of rare cancer diagnosis data interpretation and drug development.  \nKeywords: rare cancers; rare cancer diagnosis; rare cancer treatment  \n1. Introduction  \nCancer, an affliction that has persisted throughout human history, has emerged as a leading global cause of mortality. Despite its pervasive presence in contemporary society, attention is increasingly turning towards the investigation of exceptionally rare cancer cases that have sporadically appeared in historical records. The burgeoning capabilities of modern medical biology technologies have now facilitated the systematic documentation, analysis, and treatment of these seldom-encountered malignancies. While these unique cancers represent a subset of diseases with historical precedence, our comprehension of these enigmatic conditions remains constrained, primarily due to their infrequent incidence [1] .  \nIt is important to know the distinction between rare cancers and rare diseases. Rare cancers, as defined by the National Cancer Institute, manifest in fewer than 15 cases per 100,000 individuals annually [2] . For example, rare cancers, such as Hodgkin lymphoma and meningiomas, have an extremely low incidence rate of 33.56 and 1.92 per one million per year, respectively. In Europe, rare cancers are defined as those with an incidence of fewer than 6 per 100,000 people per year [3] . This definition applies to cancers such as Kaposi sarcoma, which has an incidence rate of 0.34 per 100,000, and ","cbCaies3QdqC4QwQ","https://ap.wps.com/l/cbCaies3QdqC4QwQ","pdf",1012367,36,"English","# Introduction\n## Rare cancers vs. rare diseases\n# Diagnostic advances\n## Genomic and multi-omics approaches\n## AI and machine learning integration\n# Therapeutic advances\n## Immunotherapy and targeted therapy\n## Transplantation and combination therapy\n# Challenges and outlook","[{\"question\":\"How many rare cancer subtypes are discussed, and why is diagnosis challenging?\",\"answer\":\"The review states that rare cancers include 230 distinct subtypes with infrequent incidence. Their low occurrence makes conventional diagnostic workflows and research information less available, including challenges for biopsy and imaging.\"},{\"question\":\"What diagnostic technologies does the review highlight for rare cancer detection?\",\"answer\":\"It highlights next-generation sequencing and multi-omics, including RNA-sequencing, alongside the integration of artificial intelligence and machine learning for comprehensive analysis and functional studies.\"},{\"question\":\"Which therapeutic options are summarized for rare cancer treatment?\",\"answer\":\"The review covers immunotherapy, targeted therapy, transplantation, and drug combination therapy, emphasizing clinical-trial innovations that contribute to tumor remission and overall survival.\"}]","An Overview of Advances in Rare Cancer Diagnosis and Treatment | PDF",1789975363,91]