Rare cancers are defined by low incidence rates, and may lack evidence that supports uniform standards of care and relevant clinical…
Medicine & Health
Rare cancers
Rare cancers affect fewer than 6 per 100,000 people each year, yet as a group they are responsible for around a quarter of all cancer diagnoses. Rare cancers can also be associated with worse health outcomes and survival rates compared with more common cancers.
These inequities result from several challenges to the management of rare cancers including late diagnosis, limited availability of treatments, and difficulties recruiting sufficient patients for clinical studies.
There is increasing recognition of the need to address the burden of rare cancers, and ensure that they are not neglected from policy and research initiatives. This Collection highlights a selection of research on the biology and epidemiology of rare cancers, including several promising approaches for diagnosis and treatment.
This Collection has been curated by Guest Editor Mitesh J. Borad, M.D. Professor of Medicine at the Mayo Clinic Arizona.
Image Credit: Cancer cells by Dr. Cecil Fox National Cancer Institute
PLOS ONE, Medicine, and Genetics
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PLOS ONE Introducing the PLOS collection on rare cancer
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PLOS ONE Microbiomic profiles of bile in patients with benign and malignant pancreaticobiliary disease
Background: The prognostic and pathophysiologic significance of the biliary microbiota in pancreaticobiliary malignancies is little…
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PLOS Medicine Menopausal hormone therapy and central nervous system tumors: Danish nested case-control study
Background: Use of estrogen-containing menopausal hormone therapy has been shown to influence the risk of central nervous system (CNS)…
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PLOS ONE Predictive factors of distant metastasis in surgically treated HPV-positive tonsil cancer
Background: Human papilloma virus (HPV)-related tonsil cancer is associated with favorable outcomes. Objective: The purpose of this study…
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PLOS Genetics DNAJB1-PRKACA fusion protein-regulated LINC00473 promotes tumor growth and alters mitochondrial fitness in fibrolamellar carcinoma
Fibrolamellar carcinoma (FLC) is a rare liver cancer that disproportionately affects adolescents and young adults. Currently, no standard…
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PLOS ONE Outcomes of children with clear cell sarcoma of kidney following NWTS strategies in Shanghai China (2003–2021)
Background: Although clear cell sarcoma of kidney (CCSK) is rare, it is the second most common renal tumor in children after Wilms’ tumor.…
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PLOS ONE The effects of HIV and oncogenic human papillomavirus on the tumor immune microenvironment of penile squamous cell carcinoma
Penile squamous cell carcinoma (PSCC) occurs more frequently in some developing countries compared to developed countries. Infection with…
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PLOS ONE Quantitative differentiation of minimal-fat angiomyolipomas from renal cell carcinomas using grating-based x-ray phase-contrast computed tomography: An ex vivo study
Background: The differentiation of minimal-fat—or low-fat—angiomyolipomas from other renal lesions is clinically challenging in…
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PLOS ONE Identification of cancer-related genes FGFR2 and CEBPB in choledochal cyst via RNA sequencing of patient-derived liver organoids
Background: Choledochal cysts (CC) are congenital bile duct anomalies with 6–30% risk for developing bile duct cancer. However, the…
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PLOS ONE The observational clinical registry (cohort design) of the European Reference Network on Rare Adult Solid Cancers: The protocol for the rare head and neck cancers
Introduction: Care for head and neck cancers is complex in particular for the rare ones. Knowledge is limited and histological…
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PLOS ONE Identification of curaxin as a potential new therapeutic for JAK2 V617F mutant patients
Myelofibrosis is a myeloproliferative neoplasm (MPN) which typically results in reduced length and quality of life due to systemic…
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PLOS ONE Clinical characteristics of sarcoma cases in which long-term disease control was achieved with trabectedin treatment: A retrospective study
Trabectedin is a therapeutic option for patients with advanced sarcoma. While a randomized trial demonstrated its prolonged…
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PLOS ONE MiR-130b modulates the invasive, migratory, and metastatic behavior of leiomyosarcoma
Leiomyosarcoma (LMS) is an aggressive, often poorly differentiated cancer of the smooth muscle (SM) lineage for which the molecular…
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PLOS ONE Proliferation and immunohistochemistry for p53, CD25 and CK20 in predicting prognosis of non-muscle invasive papillary urothelial carcinomas
Non-muscle invasive papillary urothelial carcinoma is a prevalent disease with a high recurrence tendency. Good prognostic and…
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PLOS ONE Androgen receptor and its correlation with estrogen and progesterone receptors, aimed for identification of cases for future anti-androgen therapy in endometrial cancers
Introduction: The expression of androgen receptor (AR) is not commonly tested or studied in uterine cancers, unlike estrogen receptor (ER)…
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PLOS ONE Exploring biomarkers and prognostic factors in uterine carcinosarcoma: An insight into L1CAM, CDX2, p53, and MSI status
Background: Uterine Carcinosarcomas (UCS) are a rare type of cancer composed of an admixture of high-grade carcinomatous and sarcomatous…
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PLOS ONE Retrospective analysis of real-world data to evaluate actionability of a comprehensive molecular profiling panel in solid tumor tissue samples (REALM study)
Introduction: Considering the growing interest in matched cancer treatment, our aim was to evaluate the ability of a comprehensive genomic…
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PLOS ONE The effect of UVA light/8-methoxypsoralen exposure used in Extracorporeal Photopheresis treatment on platelets and extracellular vesicles
Extracorporeal Photopheresis (ECP) is a leukapheresis based treatment for Cutaneous T-Cell Lymphoma, which takes advantage of the cellular…
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PLOS ONE Feasibility of using low-cost markerless motion capture for assessing functional outcomes after lower extremity musculoskeletal cancer surgery
Background: Physical limitations are frequent and debilitating after sarcoma treatment. Markerless motion capture (MMC) could measure these…
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PLOS ONE Mitotic CDK1 and 4E-BP1 I: Loss of 4E-BP1 serine 82 phosphorylation promotes proliferative polycystic disease and lymphoma in aged or sublethally irradiated mice
4E-BP1 is a tumor suppressor regulating cap-dependent translation that is in turn controlled by mechanistic target of rapamycin (mTOR) or…
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PLOS ONE Endoscopic biliary ethanol ablation using a novel multi-hole balloon catheter: In vivo feasibility study in a swine model
Background: Minimally invasive local treatment could be a good option for the treatment of extrahepatic cholangiocarcinoma (eCCA). This…
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PLOS ONE In vivo cisplatin-resistant neuroblastoma metastatic model reveals tumour necrosis factor receptor superfamily member 4 (TNFRSF4) as an independent prognostic factor of survival in neuroblastoma
Neuroblastoma is the most common solid extracranial tumour in children. Despite major advances in available therapies, children with…
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PLOS ONE Evaluation of pharmacokinetics, safety, and efficacy of [211At] meta-astatobenzylguanidine ([211At] MABG) in patients with pheochromocytoma or paraganglioma (PPGL): A study protocol
Background: Pheochromocytoma, or paraganglioma (PPGL), is a tumor that arises from catecholamine-producing chromaffin cells of the adrenal…
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PLOS ONE Identification of triciribine as a novel myeloid cell differentiation inducer
Differentiation therapy using all-trans retinoic acid (ATRA) for acute promyelocytic leukemia (APL) is well established. However, because…
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PLOS ONE Inhibition of SRC-3 as a potential therapeutic strategy for aggressive mantle cell lymphoma
Mantle cell lymphoma (MCL) has a poor prognosis and high relapse rates despite current therapies, necessitating novel treatment regimens.…
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PLOS ONE Characterization of somatic mutations in sporadic uveal melanoma and uveal melanoma in patients with germline BAP1 pathogenic variants
Genetic analyses were conducted on tumor samples from 88 patients with uveal melanoma (UM), 6 of whom carry pathogenic germline variants…
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PLOS ONE CBL mutations in chronic myelomonocytic leukemia often occur in the RING domain with multiple subclones per patient: Implications for targeting
Chronic myelomonocytic leukemia (CMML) is a rare blood cancer of older adults (3 in every 1,000,000 persons) characterized by poor…
Featured Editor
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Guest Editor Mitesh Borad