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Rare Diseases: A Diagnostic and Therapeutic Challenge
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Rare Diseases: A Diagnostic and Therapeutic Challenge

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: closed (20 April 2025) | Viewed by 11621

Special Issue Editor

Dr. Mara Cirone

E-Mail Website
Guest Editor
Department of Experimental Medicine, Sapienza University of Rome, 00161 Rome, Italy
Interests: herpesviruses; viral oncology; autophagy and unfolded protein response
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Rare diseases are a general healthcare problem worldwide due to a lack of appropriate research investments, which impinge on the absence of specific biomarkers for a timely diagnosis and the lack of appropriate therapeutic interventions. Among the rare diseases are several types of cancer, including pediatric tumors as retinoblastoma and neuroblastoma, head and neck tumors, some types of leukemia and lymphomas, gastrointestinal tumors, neuroendocrine tumors, etc.

This Special Issue will highlight new findings regarding the molecular mechanisms underlying the development of rare tumors, for diagnostic and therapeutic purposes. Original research articles and reviews are welcome.

Dr. Mara Cirone
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • rare cancers
  • rare diseases
  • exosomes
  • micro RNA
  • biomarkers
  • genomics
  • therapeutic treatments

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Published Papers (5 papers)

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Research

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16 pages, 1825 KiB  
Article
4-Phenylbutyric Acid Treatment Reduces Low-Molecular-Weight Proteinuria in a Clcn5 Knock-in Mouse Model for Dent Disease-1
by Ana Perdomo-Ramírez, Elena Ramos-Trujillo, Jose David Machado, Victor García-Nieto, Glorián Mura-Escorche and Félix Claverie-Martin
Int. J. Mol. Sci. 2024, 25(15), 8110; https://doi.org/10.3390/ijms25158110 - 25 Jul 2024
Viewed by 1203
Abstract
Dent disease-1 (DD-1) is a rare X-linked tubular disorder characterized by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrolithiasis and nephrocalcinosis. This disease is caused by inactivating mutations in the CLCN5 gene which encodes the voltage-gated ClC-5 chloride/proton antiporter. Currently, the treatment of DD-1 is only [...] Read more.
Dent disease-1 (DD-1) is a rare X-linked tubular disorder characterized by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrolithiasis and nephrocalcinosis. This disease is caused by inactivating mutations in the CLCN5 gene which encodes the voltage-gated ClC-5 chloride/proton antiporter. Currently, the treatment of DD-1 is only supportive and focused on delaying the progression of the disease. Here, we generated and characterized a Clcn5 knock-in mouse model that carries a pathogenic CLCN5 variant, c. 1566_1568delTGT; p.Val523del, which has been previously detected in several DD-1 unrelated patients, and presents the main clinical manifestations of DD-1 such as high levels of urinary b2-microglobulin, phosphate and calcium. Mutation p.Val523del causes partial ClC-5 retention in the endoplasmic reticulum. Additionally, we assessed the ability of sodium 4-phenylbutyrate, a small chemical chaperone, to ameliorate DD-1 symptoms in this mouse model. The proposed model would be of significant value in the investigation of the fundamental pathological processes underlying DD-1 and in the development of effective therapeutic strategies for this rare condition. Full article
(This article belongs to the Special Issue Rare Diseases: A Diagnostic and Therapeutic Challenge)
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12 pages, 3005 KiB  
Article
NFE2L2 and STAT3 Converge on Common Targets to Promote Survival of Primary Lymphoma Cells
by Andrea Arena, Michele Di Crosta, Roberta Gonnella, Roberta Zarrella, Maria Anele Romeo, Rossella Benedetti, Maria Saveria Gilardini Montani, Roberta Santarelli, Gabriella D’Orazi and Mara Cirone
Int. J. Mol. Sci. 2023, 24(14), 11598; https://doi.org/10.3390/ijms241411598 - 18 Jul 2023
Cited by 1 | Viewed by 1635
Abstract
NFE2L2 and STAT3 are key pro-survival molecules, and thus, their targeting may represent a promising anti-cancer strategy. In this study, we found that a positive feedback loop occurred between them and provided evidence that their concomitant inhibition efficiently impaired the survival of PEL [...] Read more.
NFE2L2 and STAT3 are key pro-survival molecules, and thus, their targeting may represent a promising anti-cancer strategy. In this study, we found that a positive feedback loop occurred between them and provided evidence that their concomitant inhibition efficiently impaired the survival of PEL cells, a rare, aggressive B cell lymphoma associated with the gammaherpesvirus KSHV and often also EBV. At the molecular level, we found that NFE2L2 and STAT3 converged in the regulation of several pro-survival molecules and in the activation of processes essential for the adaption of lymphoma cells to stress. Among those, STAT3 and NFE2L2 promoted the activation of pathways such as MAPK3/1 and MTOR that positively regulate protein synthesis, sustained the antioxidant response, expression of molecules such as MYC, BIRC5, CCND1, and HSP, and allowed DDR execution. The findings of this study suggest that the concomitant inhibition of NFE2L2 and STAT3 may be considered a therapeutic option for the treatment of this lymphoma that poorly responds to chemotherapies. Full article
(This article belongs to the Special Issue Rare Diseases: A Diagnostic and Therapeutic Challenge)
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Review

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36 pages, 989 KiB  
Review
An Overview of Advances in Rare Cancer Diagnosis and Treatment
by Grania Christyani, Matthew Carswell, Sisi Qin and Wootae Kim
Int. J. Mol. Sci. 2024, 25(2), 1201; https://doi.org/10.3390/ijms25021201 - 18 Jan 2024
Cited by 9 | Viewed by 4829
Abstract
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 [...] Read more.
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. Full article
(This article belongs to the Special Issue Rare Diseases: A Diagnostic and Therapeutic Challenge)
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Other

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10 pages, 1528 KiB  
Case Report
Late Onset of Primary Hemophagocytic Lymphohistiocytosis (HLH) with a Novel Constellation of Compound Heterozygosity Involving Two Missense Variants in the PRF1 Gene
by Alina Stadermann, Markus Haar, Armin Riecke, Thomas Mayer, Christian Neumann, Arthur Bauer, Ansgar Schulz, Kumar Nagarathinam, Niklas Gebauer, Svea Böhm, Miriam Groß, Michael Grunert, Matthias Müller and Hanno Witte
Int. J. Mol. Sci. 2024, 25(5), 2762; https://doi.org/10.3390/ijms25052762 - 27 Feb 2024
Cited by 1 | Viewed by 1836
Abstract
Hemophagocytic lymphohistiocytosis (HLH) is a rare but in most cases life-threatening immune-mediated disease of the hematopoietic system frequently associated with hematologic neoplasms. Here, we report on a case in which we detected a novel constellation of two missense variants affecting the PRF1 gene, [...] Read more.
Hemophagocytic lymphohistiocytosis (HLH) is a rare but in most cases life-threatening immune-mediated disease of the hematopoietic system frequently associated with hematologic neoplasms. Here, we report on a case in which we detected a novel constellation of two missense variants affecting the PRF1 gene, leading to de novo primary HLH. Diagnostics included a comprehensive clinical work-up and standard methods of hematopathology as well as extended molecular genomics based on polymerase chain reaction (PCR) reactions and the calculation of three-dimensional molecule reconstructions of PRF1. Subsequently, a comprehensive review of the literature was performed, which showed that this compound heterozygosity has not been previously described. The patient was a 20-year-old female. Molecular diagnostics revealed two heterozygous missense variants in the PRF1 gene (A91V and R104C) on exon 2. Apart from the finding of two inconclusive genetic variants, all clinical criteria defined by the HLH study group of Histiocyte Society were met at initial presentation. The final diagnosis was made in cooperation with the Consortium of German HLH—reference centers. Here, chemotherapy did not lead to sufficient sustained disease control. Therefore, the decision for allogenic hematopoietic stem cell transplantation (alloHSCT) was made. Hitherto, the duration of response was 6 months. Due to severe and unmanageable hepatic graft-versus-host disease (GvHD), the patient died. We report on a novel constellation of a compound heterozygosity containing two missense variants on exon 2 of the PRF1 gene. To the authors’ best knowledge, this is the first presentation of a primary HLH case harboring this genomic constellation with late-onset clinical manifestation. Full article
(This article belongs to the Special Issue Rare Diseases: A Diagnostic and Therapeutic Challenge)
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7 pages, 2590 KiB  
Case Report
Expanding the Phenotype of Hereditary Congenital Facial Paresis Type 3
by Aysylu Murtazina, Artem Borovikov, Anna Kuchina, Olga Ovsova, Maria Bulakh, Alena Chukhrova, Svetlana Braslavskaya, Oksana Ryzhkova, Nikolay Skryabin, Sergey Kutsev and Elena Dadali
Int. J. Mol. Sci. 2024, 25(1), 129; https://doi.org/10.3390/ijms25010129 - 21 Dec 2023
Cited by 2 | Viewed by 1158
Abstract
The HOXB1 gene encodes a homeobox transcription factor pivotal in the development of rhombomere 4. Biallelic pathogenic variants in this gene are associated with congenital facial paresis type 3 (HCFP3). Only seven single nucleotide variants have been reported in the literature to date. [...] Read more.
The HOXB1 gene encodes a homeobox transcription factor pivotal in the development of rhombomere 4. Biallelic pathogenic variants in this gene are associated with congenital facial paresis type 3 (HCFP3). Only seven single nucleotide variants have been reported in the literature to date. Here, we report a 27-year-old female with a unique presentation of HCFP3 with two novel compound-heterozygous missense variants: c.763C>G, p.(Arg255Gly), which arose de novo and an inherited c.781C>T, p.(Arg261Cys) variant. The patient exhibited HCFP3 symptoms with mild upward esodeviation and lacked the documented ear malformations common in HCFP. For many years, she was misdiagnosed with facio-scapulo-humeral muscular dystrophy, due to complaints of shoulder girdle and neck muscle weakness. No alternative genetic or acquired causes of neck and shoulder girdle weakness were found, suggesting its potential inclusion in the phenotypic spectrum. Full article
(This article belongs to the Special Issue Rare Diseases: A Diagnostic and Therapeutic Challenge)
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