An Overview of Advances in Rare Cancer Diagnosis and Treatment

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 breakthroug...

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Main Authors: Grania Christyani, Matthew Carswell, Sisi Qin, Wootae Kim
Format: Article
Language:English
Published: MDPI AG 2024-01-01
Series:International Journal of Molecular Sciences
Subjects:
Online Access:https://www.mdpi.com/1422-0067/25/2/1201
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author Grania Christyani
Matthew Carswell
Sisi Qin
Wootae Kim
author_facet Grania Christyani
Matthew Carswell
Sisi Qin
Wootae Kim
author_sort Grania Christyani
collection DOAJ
description 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.
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spelling doaj.art-f5d90b5b3d4a417ab679130b806ae4152024-01-29T13:58:08ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672024-01-01252120110.3390/ijms25021201An Overview of Advances in Rare Cancer Diagnosis and TreatmentGrania Christyani0Matthew Carswell1Sisi Qin2Wootae Kim3Department of Integrated Biomedical Science, Soonchunhyang Institute of Medi-Bio Science (SIMS), Soonchunhyang University, Cheonan 31151, Chungcheongnam-do, Republic of KoreaDepartment of Integrated Biomedical Science, Soonchunhyang Institute of Medi-Bio Science (SIMS), Soonchunhyang University, Cheonan 31151, Chungcheongnam-do, Republic of KoreaDepartment of Integrated Biomedical Science, Soonchunhyang Institute of Medi-Bio Science (SIMS), Soonchunhyang University, Cheonan 31151, Chungcheongnam-do, Republic of KoreaDepartment of Integrated Biomedical Science, Soonchunhyang Institute of Medi-Bio Science (SIMS), Soonchunhyang University, Cheonan 31151, Chungcheongnam-do, Republic of KoreaCancer 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.https://www.mdpi.com/1422-0067/25/2/1201rare cancersrare cancer diagnosisrare cancer treatment
spellingShingle Grania Christyani
Matthew Carswell
Sisi Qin
Wootae Kim
An Overview of Advances in Rare Cancer Diagnosis and Treatment
International Journal of Molecular Sciences
rare cancers
rare cancer diagnosis
rare cancer treatment
title An Overview of Advances in Rare Cancer Diagnosis and Treatment
title_full An Overview of Advances in Rare Cancer Diagnosis and Treatment
title_fullStr An Overview of Advances in Rare Cancer Diagnosis and Treatment
title_full_unstemmed An Overview of Advances in Rare Cancer Diagnosis and Treatment
title_short An Overview of Advances in Rare Cancer Diagnosis and Treatment
title_sort overview of advances in rare cancer diagnosis and treatment
topic rare cancers
rare cancer diagnosis
rare cancer treatment
url https://www.mdpi.com/1422-0067/25/2/1201
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