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Cancers
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New Therapeutic Advances in Rare Tumors
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New Therapeutic Advances in Rare Tumors

A special issue of Cancers (ISSN 2072-6694). This special issue belongs to the section "Cancer Therapy".

Deadline for manuscript submissions: closed (31 December 2020) | Viewed by 76221

Special Issue Editor

Dr. Javier Martin-Broto

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Guest Editor
Hospital Universitario Virgen del Rocío, Sevilla, Spain

Special Issue Information

Dear Colleagues,

DEALING WITH RARE TUMORS

Rare cancers are defined as those malignant tumors with an incidence less than 6 per 100,000 inhabitants and year. Using this definition, 22% of all cancer are considered rare cancers, that means, as a group, 108 new rare cancer cases per 100,000 and year. Considering the prevalence, it is estimated that about 4,300,000 patients are living in the European Union with a diagnosis of rare cancer (24% of prevalence). Despite the fact that a substantial number of rare cancers have well characterized histomolecular entities, patients diagnosed with these rare cancers are disadvantaged compared to patients diagnosed with common cancers. The 5-year overall survival rates are 47% in rare cancer versus 65% in common cancers. This difference in survival expectation is multifactorial, difficulties or delay in correct diagnosis, limited access to centers with expertise or inadequate funding on research programs are among the reasons explaining this difference.

Networking on rare tumors is relevant for trying to mitigate inequities and to offer research opportunities that can be addressed in a reasonable time. EURACAN or SELNET consortium are examples of this kind of networking. This special issue entitled “Dealing with Rare Cancer” focusses on 10 rare tumors or family of tumors led mainly by investigators from these networking groups. The aim is to provide the latest insight on these entities that could be translated into practice or new research.

Dr. Javier Martin-Broto
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. Cancers is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2900 CHF (Swiss Francs). 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 Tumors
  • Therapy
  • Upcoming strategies

Published Papers (17 papers)

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Research

Jump to: Review, Other

20 pages, 3146 KiB  
Article
Treatment Patterns and Outcomes in a Nationwide Cohort of Older and Younger Veterans with Waldenström Macroglobulinemia, 2006–2019
by Hsu-Chih Chien, Deborah Morreall, Vikas Patil, Kelli M. Rasmussen, Christina Yong, Chunyang Li, Deborah G. Passey, Zachary Burningham, Brian C. Sauer and Ahmad S. Halwani
Cancers 2021, 13(7), 1708; https://doi.org/10.3390/cancers13071708 - 4 Apr 2021
Cited by 1 | Viewed by 2170
Abstract
Little is known about real-world treatment patterns and outcomes in Waldenström macroglobulinemia (WM) following the recent introduction of newer treatments, especially among older adults. We describe patterns of first-line (1 L) WM treatment in early (2006–2012) and modern (2013–2019) eras and report outcomes [...] Read more.
Little is known about real-world treatment patterns and outcomes in Waldenström macroglobulinemia (WM) following the recent introduction of newer treatments, especially among older adults. We describe patterns of first-line (1 L) WM treatment in early (2006–2012) and modern (2013–2019) eras and report outcomes (overall response rate (ORR), overall survival (OS), progression-free survival (PFS), and adverse event (AE)-related discontinuation) in younger (≤70 years) and older (>70 years) populations. We followed 166 younger and 152 older WM patients who received 1 L treatment between January 2006 and April 2019 in the Veterans Health Administration. Median follow-up was 43.5 months (range: 0.6–147.2 months). Compared to the early era, older patients in the modern era achieved improved ORRs (early: 63.8%, modern: 72.3%) and 41% lower risk of death/progression (hazard ratio (HR) for PFS: 0.59, 95% CI (confidence interval): 0.36–0.95), with little change in AE-related discontinuation between eras (HR: 0.82, 95% CI: 0.4–1.7). In younger patients, the AE-related discontinuation risk increased almost fourfold (HR: 3.9, 95% CI: 1.1–14), whereas treatment effects did not change between eras (HR for OS: 1.4, 95% CI: 0.66–2.8; HR for PFS: 1.1, 95% CI: 0.67–1.7). Marked improvements in survival among older adults accompanied a profound shift in 1 L treatment patterns for WM. Full article
(This article belongs to the Special Issue New Therapeutic Advances in Rare Tumors)
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15 pages, 1696 KiB  
Article
Diagnosed with a Rare Cancer: Experiences of Adult Sarcoma Survivors with the Healthcare System—Results from the SURVSARC Study
by Cas Drabbe, Dirk J. Grünhagen, Winan J. Van Houdt, Pètra M. Braam, Vicky L. M. N. Soomers, Jos A. Van der Hage, Jacco J. De Haan, Kristien B. M. I. Keymeulen, Olga Husson and Winette T. A. Van der Graaf
Cancers 2021, 13(4), 679; https://doi.org/10.3390/cancers13040679 - 8 Feb 2021
Cited by 15 | Viewed by 2930
Abstract
The aim of this study was to explore the experience of rare cancer patients with the healthcare system and examine differences between age groups (adolescents and young adults (AYA, 18–39 years), older adults (OA, 40–69 years) and elderly (≥70 years)). Dutch sarcoma patients, [...] Read more.
The aim of this study was to explore the experience of rare cancer patients with the healthcare system and examine differences between age groups (adolescents and young adults (AYA, 18–39 years), older adults (OA, 40–69 years) and elderly (≥70 years)). Dutch sarcoma patients, 2–10 years after diagnosis, completed a questionnaire on their experience with the healthcare system, satisfaction with care, information needs, patient and diagnostic intervals (first symptom to first doctor’s visit and first doctor’s visit to diagnosis, respectively) and received supportive care. In total, 1099 patients completed the questionnaire (response rate 58%): 186 AYAs, 748 OAs and 165 elderly. Many survivors experienced insufficient medical and non-medical guidance (32% and 38%), although satisfaction with care was rated good to excellent by 94%. Both patient and diagnostic intervals were >1 month for over half of the participants and information needs were largely met (97%). AYAs had the longest patient and diagnostic intervals, experienced the greatest lack of (non-)medical guidance, had more desire for patient support groups and used supportive care most often. This nationwide study among sarcoma survivors showed that healthcare experiences differ per age group and identified needs related to the rarity of these tumors, such as improvements concerning (non-)medical guidance and diagnostic intervals. Full article
(This article belongs to the Special Issue New Therapeutic Advances in Rare Tumors)
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14 pages, 665 KiB  
Article
GYNOCARE Update: Modern Strategies to Improve Diagnosis and Treatment of Rare Gynecologic Tumors—Current Challenges and Future Directions
by Riccardo Di Fiore, Sherif Suleiman, Bridget Ellul, Sharon A. O’Toole, Charles Savona-Ventura, Ana Felix, Valerio Napolioni, Neil T. Conlon, Ilker Kahramanoglu, Miriam J. Azzopardi, Miriam Dalmas, Neville Calleja, Mark R. Brincat, Yves Muscat-Baron, Maja Sabol, Vera Dimitrievska, Angel Yordanov, Mariela Vasileva-Slaveva, Kristelle von Brockdorff, Rachel A. Micallef, Paul Kubelac, Patriciu Achimaș-Cadariu, Catalin Vlad, Olga Tzortzatou, Robert Poka, Antonio Giordano, Alex Felice, Nicholas Reed, C. Simon Herrington, David Faraggi and Jean Calleja-Agiusadd Show full author list remove Hide full author list
Cancers 2021, 13(3), 493; https://doi.org/10.3390/cancers13030493 - 27 Jan 2021
Cited by 12 | Viewed by 5058
Abstract
More than 50% of all gynecologic tumors can be classified as rare (defined as an incidence of ≤6 per 100,000 women) and usually have a poor prognosis owing to delayed diagnosis and treatment. In contrast to almost all other common solid tumors, the [...] Read more.
More than 50% of all gynecologic tumors can be classified as rare (defined as an incidence of ≤6 per 100,000 women) and usually have a poor prognosis owing to delayed diagnosis and treatment. In contrast to almost all other common solid tumors, the treatment of rare gynecologic tumors (RGT) is often based on expert opinion, retrospective studies, or extrapolation from other tumor sites with similar histology, leading to difficulty in developing guidelines for clinical practice. Currently, gynecologic cancer research, due to distinct scientific and technological challenges, is lagging behind. Moreover, the overall efforts for addressing these challenges are fragmented across different European countries and indeed, worldwide. The GYNOCARE, COST Action CA18117 (European Network for Gynecological Rare Cancer Research) programme aims to address these challenges through the creation of a unique network between key stakeholders covering distinct domains from concept to cure: basic research on RGT, biobanking, bridging with industry, and setting up the legal and regulatory requirements for international innovative clinical trials. On this basis, members of this COST Action, (Working Group 1, “Basic and Translational Research on Rare Gynecological Cancer”) have decided to focus their future efforts on the development of new approaches to improve the diagnosis and treatment of RGT. Here, we provide a brief overview of the current state-of-the-art and describe the goals of this COST Action and its future challenges with the aim to stimulate discussion and promote synergy across scientists engaged in the fight against this rare cancer worldwide. Full article
(This article belongs to the Special Issue New Therapeutic Advances in Rare Tumors)
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9 pages, 1303 KiB  
Article
Intensity Modulated Radiotherapy with Carbon Ion Radiotherapy Boost for Acinic Cell Carcinoma of the Salivary Glands
by Maximilian P. Schmid, Thomas Held, Kristin Lang, Klaus Herfarth, Juliane Hörner-Rieber, Semi B. Harrabi, Julius Moratin, Christian Freudlsperger, Karim Zaoui, Jürgen Debus and Sebastian Adeberg
Cancers 2021, 13(1), 124; https://doi.org/10.3390/cancers13010124 - 2 Jan 2021
Cited by 1 | Viewed by 1969
Abstract
Aim: to report clinical outcome in patients with acinic cell carcinoma of the salivary glands treated with intensity-modulated radiotherapy (IMRT) and carbon ion radiotherapy (CIRT) boost. Materials and Methods: all patients with acinic cell carcinoma of the salivary glands treated at [...] Read more.
Aim: to report clinical outcome in patients with acinic cell carcinoma of the salivary glands treated with intensity-modulated radiotherapy (IMRT) and carbon ion radiotherapy (CIRT) boost. Materials and Methods: all patients with acinic cell carcinoma of the salivary glands treated at the Heidelberg Ion-Beam Therapy Center were considered for this retrospective analysis. All patients received a CIRT boost with 18–24 Gy radiobiologic effectiveness (RBE)-weighted dose in 3 Gy RBE-weighted dose per fraction followed by IMRT, with 50–54 Gy in 2 Gy per fraction. Disease outcome was evaluated for local (LR), nodal (NR), distant recurrence (DR), and disease-free (DFS) and overall survival (OS). Morbidity was scored based on Common Terminology Criteria for Adverse Events (CTCAE) version 5. Descriptive statistics and the Kaplan-Meier method were used for analysis. Results: fifteen patients were available for analysis. Median follow-up after radiotherapy was 43 months. Six patients were treated for primary disease and nine for recurrent disease. Eight patients were treated with radiotherapy for macroscopic disease. Disease recurrence was observed in four patients: 1 LR, 2 NR, and 2 DR; 5-year local control, DFS, and OS were 80%, 52%, and 80%, respectively. No radiotherapy-related G3-5 morbidity was observed. Conclusion: In acinic cell carcinoma, IMRT with carbon ion radiotherapy boost leads to excellent results after R1-resection and is a promising treatment modality for definitive treatment in inoperable patients. Full article
(This article belongs to the Special Issue New Therapeutic Advances in Rare Tumors)
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14 pages, 1943 KiB  
Article
Trabectedin Plus Radiotherapy for Advanced Soft-Tissue Sarcoma: Experience in Forty Patients Treated at a Sarcoma Reference Center
by Nadia Hindi, Irene Carrasco García, Alberto Sánchez-Camacho, Antonio Gutierrez, Javier Peinado, Inmaculada Rincón, Johanna Benedetti, Pilar Sancho, Paloma Santos, Paloma Sánchez-Bustos, David Marcilla, Victor Encinas, Sara Chacon, Cristobal Muñoz-Casares, David Moura and Javier Martin-Broto
Cancers 2020, 12(12), 3740; https://doi.org/10.3390/cancers12123740 - 12 Dec 2020
Cited by 14 | Viewed by 5824
Abstract
Symptomatic control and tumoral shrinkage is an unmet need in advanced soft-tissue sarcoma (STS) patients beyond first-line. The combination of trabectedin and radiotherapy showed activity in a recently reported clinical trial in this setting. This retrospective series aims to analyze our experience with [...] Read more.
Symptomatic control and tumoral shrinkage is an unmet need in advanced soft-tissue sarcoma (STS) patients beyond first-line. The combination of trabectedin and radiotherapy showed activity in a recently reported clinical trial in this setting. This retrospective series aims to analyze our experience with the same regimen in the real-life setting. We retrospectively reviewed advanced sarcoma patients treated with trabectedin concomitantly with radiotherapy with palliative intent. Growth-modulation index (GMI) was calculated as a surrogate of efficacy. Forty metastatic patients were analyzed. According to RECIST, there was one (2.5%) complete response, 12 (30%) partial responses, 18 (45%) disease stabilizations, and nine (22.5%) progressions. After a median follow-up of 15 months (range 2–38), median progression-free survival (PFS) and overall survival (OS) were 7.5 months (95% CI 2.8–12.2) and 23.5 months (95% CI 1.1–45.8), respectively. Median GMI was 1.42 (range 0.19–23.76), and in 16 (53%) patients, it was >1.33. In patients with GMI >1.33, median OS was significantly longer than in those with GMI 0–1.33 (median OS 52.1 months (95% CI not reached) vs. 8.9 months (95% CI 6.3–11.6), p = 0.028). The combination of trabectedin plus radiotherapy is an active therapeutic option in patients with advanced STS, especially when tumor shrinkage for symptomatic relief is needed. Full article
(This article belongs to the Special Issue New Therapeutic Advances in Rare Tumors)
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11 pages, 12891 KiB  
Article
Assessment of HER2 Protein Overexpression and Gene Amplification in Renal Collecting Duct Carcinoma: Therapeutic Implication
by Manuela Costantini, Carla Azzurra Amoreo, Liborio Torregrossa, Greta Alì, Enrico Munari, Carmen Jeronimo, Rui Henrique, Sara Petronilho, Umberto Capitanio, Roberta Lucianò, Nazareno Suardi, Maria Teresa Landi, Umberto Anceschi, Aldo Brassetti, Vito Michele Fazio, Michele Gallucci, Giuseppe Simone, Steno Sentinelli and Maria Luana Poeta
Cancers 2020, 12(11), 3345; https://doi.org/10.3390/cancers12113345 - 12 Nov 2020
Cited by 3 | Viewed by 2381
Abstract
Collecting duct carcinoma (CDC) is rare and aggressive histology of kidney cancers. Although different therapeutic approaches have been tested, the 2-year survival remains very poor. Since CDC exhibits overlapping features with urothelial carcinoma, the analysis of shared molecular alterations could provide new insights [...] Read more.
Collecting duct carcinoma (CDC) is rare and aggressive histology of kidney cancers. Although different therapeutic approaches have been tested, the 2-year survival remains very poor. Since CDC exhibits overlapping features with urothelial carcinoma, the analysis of shared molecular alterations could provide new insights into the understanding of this rare disease and also therapeutic options. We collected 26 CDC cases, and we assessed HER2 protein expression by immunohistochemistry (IHC) and gene amplification by fluorescence in-situ hybridization (FISH) according to 2018 ASCO/CAP HER2-testing recommendations. Six out of twenty-six (23%) tumors showed HER2 positive staining. In particular, 3+ score was present in 2/6 cases (33%), 2+ in 3/6 cases (50%) and 1+ in 1/6 cases (17%). The 6 HER2+ tumors were also analyzed by FISH to assess gene copy number. One out of six CDC with IHC 3+ was also HER2 amplified, showing an average HER2 copy number ≥4.0 (10.85) and a HER2/CEP17 ratio ≥ (5.63), while the 5/6 cases were HER2 negative. Based on the 2018 ASCO/CAP guidelines overall, 2/26 CDC cases (8%) were HER2+. The present study provides evidence for testing, in future studies, HER2 to assess its clinical value as a novel target for the treatment of this highly malignant cancer. Full article
(This article belongs to the Special Issue New Therapeutic Advances in Rare Tumors)
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18 pages, 2570 KiB  
Article
Prognostic Impact of let-7e MicroRNA and Its Target Genes in Localized High-Risk Intestinal GIST: A Spanish Group for Research on Sarcoma (GEIS) Study
by Antonio Fernandez-Serra, David S. Moura, María Dolores Sanchez-Izquierdo, Silvia Calabuig-Fariñas, Maria Lopez-Alvarez, Andrea Martínez-Martínez, Irene Carrasco-Garcia, Marta Ramírez-Calvo, Elena Blanco-Alcaina, Raquel López-Reig, Antonia Obrador-Hevia, Regina Alemany, Antonio Gutierrez, Nadia Hindi, Andres Poveda, Jose A. Lopez-Guerrero and Javier Martin-Broto
Cancers 2020, 12(10), 2979; https://doi.org/10.3390/cancers12102979 - 14 Oct 2020
Cited by 8 | Viewed by 2199
Abstract
MicroRNAs (miRNAs) are small non-coding RNAs that negatively regulate gene expression at the post-transcriptional level, and they have been described as being associated with tumor prognosis. Here, miRNA profiling was planned to explore new molecular prognostic biomarkers in localized intestinal high-risk GIST. Paraffin [...] Read more.
MicroRNAs (miRNAs) are small non-coding RNAs that negatively regulate gene expression at the post-transcriptional level, and they have been described as being associated with tumor prognosis. Here, miRNA profiling was planned to explore new molecular prognostic biomarkers in localized intestinal high-risk GIST. Paraffin tumor blocks of 14 and 86 patients were used in the discovery and expansion sets, respectively. GeneChip miRNA v3.0 was employed to identify the miRNAs differentially expressed between relapsed and non-relapsed patient samples, which were validated in the expansion set, by qRT-PCR. RT2 Profiler PCR Array was used for the screening of let-7e targets. Expression levels were correlated with relapse-free survival and overall survival. In the discovery set, 39 miRNAs were significantly deregulated, let-7e and miR-550 being the most underexpressed and overexpressed miRNAs in the relapsed group, respectively. In the expansion set, the underexpression of let-7e or the overexpression of 4 of its target genes (ACVR1B, CASP3, COL3A1, and COL5A2) were statistically associated with worse relapse-free survival. The expression of let-7e and 4 of its target genes are potential prognostic biomarkers in high-risk localized intestinal GIST. The expression of these genes is a potential molecular tool useful for a more accurate prognosis in this subset of GIST patients. Full article
(This article belongs to the Special Issue New Therapeutic Advances in Rare Tumors)
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Review

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25 pages, 3151 KiB  
Review
A Comprehensive Review on Solitary Fibrous Tumor: New Insights for New Horizons
by Javier Martin-Broto, Jose L. Mondaza-Hernandez, David S. Moura and Nadia Hindi
Cancers 2021, 13(12), 2913; https://doi.org/10.3390/cancers13122913 - 10 Jun 2021
Cited by 58 | Viewed by 7963
Abstract
Solitary fibrous tumor (SFT) is a rare mesenchymal, ubiquitous tumor, with an incidence of 1 new case/million people/year. In the 2020 WHO classification, risk stratification models were recommended as a better tool to determine prognosis in SFT, to the detriment of “typical” or [...] Read more.
Solitary fibrous tumor (SFT) is a rare mesenchymal, ubiquitous tumor, with an incidence of 1 new case/million people/year. In the 2020 WHO classification, risk stratification models were recommended as a better tool to determine prognosis in SFT, to the detriment of “typical” or “malignant” classic terms. The risk for metastasis is up to 35–45%, or even greater, in series with a longer follow-up. Over the last few decades, advances in immunohistochemistry and molecular diagnostics identified STAT6 nuclear protein expression and the NAB2–STAT6 fusion gene as more precise tools for SFT diagnosis. Recent evidence taken from retrospective series and from two prospective phase II clinical trials showed that antiangiogenics are active and their sequential use from first line should be considered, except for dedifferentiated SFT for which chemotherapy is the best option. Since the fusion transcript driver’s first description in 2013, new insights have been brought on key molecular events in SFT. This comprehensive review mainly focuses on the superior efficacy of antiangiogenics over chemotherapeutic agents in SFT, provides the current knowledge of key molecules that could co-drive the SFT behavior, and suggests new target candidates that deserve to be explored in preclinical and clinical research in SFT. Full article
(This article belongs to the Special Issue New Therapeutic Advances in Rare Tumors)
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29 pages, 715 KiB  
Review
Heterogeneous Circulating Tumor Cells in Sarcoma: Implication for Clinical Practice
by Chiara Agnoletto, Chiara Caruso and Cecilia Garofalo
Cancers 2021, 13(9), 2189; https://doi.org/10.3390/cancers13092189 - 2 May 2021
Cited by 8 | Viewed by 4433
Abstract
Bone and soft tissue sarcomas (STSs) represent a group of heterogeneous rare malignant tumors of mesenchymal origin, with a poor prognosis. Due to their low incidence, only a few studies have been reported addressing circulating tumor cells (CTCs) in sarcoma, despite the well-documented [...] Read more.
Bone and soft tissue sarcomas (STSs) represent a group of heterogeneous rare malignant tumors of mesenchymal origin, with a poor prognosis. Due to their low incidence, only a few studies have been reported addressing circulating tumor cells (CTCs) in sarcoma, despite the well-documented relevance for applications of liquid biopsy in precision medicine. In the present review, the most recent data relative to the detection and isolation of viable and intact CTCs in these tumors will be reviewed, and the heterogeneity in CTCs will be discussed. The relevance of epithelial–mesenchymal plasticity and stemness in defining the phenotypic and functional properties of these rare cells in sarcoma will be highlighted. Of note, the existence of dynamic epithelial–mesenchymal transition (EMT)-related processes in sarcoma tumors has only recently been related to their clinical aggressiveness. Also, the presence of epithelial cell adhesion molecule (EpCAM)-positive CTC in sarcoma has been weakly correlated with poor outcome and disease progression, thus proving the existence of both epithelial and mesenchymal CTC in sarcoma. The advancement in technologies for capturing and enumerating all diverse CTCs phenotype originating from these mesenchymal tumors are presented, and results provide a promising basis for clinical application of CTC detection in sarcoma. Full article
(This article belongs to the Special Issue New Therapeutic Advances in Rare Tumors)
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22 pages, 957 KiB  
Review
Desmoplastic Small Round Cell Tumor: A Review of Main Molecular Abnormalities and Emerging Therapy
by Celso Abdon Mello, Fernando Augusto Batista Campos, Tiago Goss Santos, Maria Leticia Gobo Silva, Giovana Tardin Torrezan, Felipe D’Almeida Costa, Maria Nirvana Formiga, Ulisses Nicolau, Antonio Geraldo Nascimento, Cassia Silva, Maria Paula Curado, Suely Akiko Nakagawa, Ademar Lopes and Samuel Aguiar, Jr.
Cancers 2021, 13(3), 498; https://doi.org/10.3390/cancers13030498 - 28 Jan 2021
Cited by 25 | Viewed by 6698
Abstract
Desmoplastic small round cell tumor (DSRCT) is an extremely rare, aggressive sarcoma affecting adolescents and young adults with male predominance. Generally, it originates from the serosal surface of the abdominal cavity. The hallmark characteristic of DSRCT is the EWSR1–WT1 gene fusion. This translocation [...] Read more.
Desmoplastic small round cell tumor (DSRCT) is an extremely rare, aggressive sarcoma affecting adolescents and young adults with male predominance. Generally, it originates from the serosal surface of the abdominal cavity. The hallmark characteristic of DSRCT is the EWSR1–WT1 gene fusion. This translocation up-regulates the expression of PDGFRα, VEGF and other proteins related to tumor and vascular cell proliferation. Current management of DSRCT includes a combination of chemotherapy, radiation and aggressive cytoreductive surgery plus intra-peritoneal hyperthermic chemotherapy (HIPEC). Despite advances in multimodal therapy, outcomes remain poor since the majority of patients present disease recurrence and die within three years. The dismal survival makes DSRCT an orphan disease with an urgent need for new drugs. The treatment of advanced and recurrent disease with tyrosine kinase inhibitors, such as pazopanib, sunitinib, and mTOR inhibitors was evaluated by small trials. Recent studies using comprehensive molecular profiling of DSRCT identified potential therapeutic targets. In this review, we aim to describe the current studies conducted to better understand DSRCT biology and to explore the new therapeutic strategies under investigation in preclinical models and in early phase clinical trials. Full article
(This article belongs to the Special Issue New Therapeutic Advances in Rare Tumors)
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14 pages, 8408 KiB  
Review
Rare Primary Malignant Bone Sarcomas
by Emanuela Palmerini, Alberto Righi and Eric L. Staals
Cancers 2020, 12(11), 3092; https://doi.org/10.3390/cancers12113092 - 23 Oct 2020
Cited by 20 | Viewed by 4710
Abstract
Rare primary malignant bone sarcomas (RPMBS), other than osteosarcoma, chondrosarcoma, chordoma, and Ewing sarcoma, account for about 5–10% of primary bone tumors and represent a major diagnostic challenge. These tumors include spindle cell and round cell sarcoma entities, hemangiopericytoma-like and vascular tumors. Additionally, [...] Read more.
Rare primary malignant bone sarcomas (RPMBS), other than osteosarcoma, chondrosarcoma, chordoma, and Ewing sarcoma, account for about 5–10% of primary bone tumors and represent a major diagnostic challenge. These tumors include spindle cell and round cell sarcoma entities, hemangiopericytoma-like and vascular tumors. Additionally, several histotypes, traditionally described in the soft tissues, such as myxofibrosarcoma, synovial sarcoma, and malignant peripheral nerve sheath tumor of bone, have been reported in patients with primary bone tumors. While wide surgical resection is the mainstay of local treatment, systemic therapy of these rare entities is controversial. Patients with undifferentiated spindle cell or pleomorphic high-grade tumors of bone, are usually treated with osteosarcoma-like chemotherapy, while patients with round cell and undifferentiated round cell tumors (URCTs), may respond to sarcoma treatment regimens for Ewing sarcoma patients. Studies on analogies and differences among these ultra-rare tumors have seldom been reported. This review describes relevance, clinical aspects, diagnostic procedures, staging, treatment recommendations, and current research in this composite tumor group. Full article
(This article belongs to the Special Issue New Therapeutic Advances in Rare Tumors)
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13 pages, 1538 KiB  
Review
Extraskeletal Myxoid Chondrosarcoma: State of the Art and Current Research on Biology and Clinical Management
by Silvia Stacchiotti, Giacomo Giulio Baldi, Carlo Morosi, Alessandro Gronchi and Roberta Maestro
Cancers 2020, 12(9), 2703; https://doi.org/10.3390/cancers12092703 - 21 Sep 2020
Cited by 35 | Viewed by 6704
Abstract
Extraskeletal myxoid chondrosarcoma (EMC) is an ultra-rare mesenchymal neoplasm with uncertain differentiation, which arises mostly in the deep soft tissue of proximal extremities and limb girdles. EMC is marked by a translocation involving the NR4A3 gene, which can be fused in-frame with different [...] Read more.
Extraskeletal myxoid chondrosarcoma (EMC) is an ultra-rare mesenchymal neoplasm with uncertain differentiation, which arises mostly in the deep soft tissue of proximal extremities and limb girdles. EMC is marked by a translocation involving the NR4A3 gene, which can be fused in-frame with different partners, most often EWSR1 or TAF1. Although EMC biology is still poorly defined, recent studies have started shedding light on the specific contribution of NR4A3 chimeric proteins to EMC pathogenesis and clinical outcome. Standard treatment for localized disease is surgery, plus or minus radiation therapy with an expected prolonged survival even though the risk of relapse is about 50%. In advanced cases, besides the standard chemotherapy currently used for soft tissue sarcoma, antiangiogenic agents have recently shown promising activity. The aim of this review is to provide the state of the art of treatment for localized and advanced disease, with a focus on pharmacological treatments available for EMC. The biological basis of current research and future perspectives will be also discussed. Full article
(This article belongs to the Special Issue New Therapeutic Advances in Rare Tumors)
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32 pages, 778 KiB  
Review
Uncommon Subtypes of Malignant Melanomas: A Review Based on Clinical and Molecular Perspectives
by Matías Chacón, Yanina Pfluger, Martín Angel, Federico Waisberg and Diego Enrico
Cancers 2020, 12(9), 2362; https://doi.org/10.3390/cancers12092362 - 21 Aug 2020
Cited by 21 | Viewed by 5397
Abstract
Malignant melanoma represents the most aggressive type of skin cancer. Modern therapies, including targeted agents and immune checkpoint inhibitors, have changed the dismal prognosis that characterized this disease. However, most evidence was obtained by studying patients with frequent subtypes of cutaneous melanoma (CM). [...] Read more.
Malignant melanoma represents the most aggressive type of skin cancer. Modern therapies, including targeted agents and immune checkpoint inhibitors, have changed the dismal prognosis that characterized this disease. However, most evidence was obtained by studying patients with frequent subtypes of cutaneous melanoma (CM). Consequently, there is an emerging need to understand the molecular basis and treatment approaches for unusual melanoma subtypes. Even a standardized definition of infrequent or rare melanoma is not clearly established. For that reason, we reviewed this challenging topic considering clinical and molecular perspectives, including uncommon CMs—not associated with classical V600E/K BRAF mutations—malignant mucosal and uveal melanomas, and some unusual independent entities, such as amelanotic, desmoplastic, or spitzoid melanomas. Finally, we collected information regarding melanomas from non-traditional primary sites, which emerge from locations as unique as meninges, dermis, lymph nodes, the esophagus, and breasts. The aim of this review is to summarize and highlight the main scientific evidence regarding rare melanomas, with a particular focus on treatment perspectives. Full article
(This article belongs to the Special Issue New Therapeutic Advances in Rare Tumors)
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29 pages, 2812 KiB  
Review
Systemic Treatment Selection for Patients with Advanced Pancreatic Neuroendocrine Tumours (PanNETs)
by Vera G. Megdanova-Chipeva, Angela Lamarca, Alison Backen, Mairéad G. McNamara, Jorge Barriuso, Sonia Sergieva, Lilia Gocheva, Was Mansoor, Prakash Manoharan and Juan W. Valle
Cancers 2020, 12(7), 1988; https://doi.org/10.3390/cancers12071988 - 21 Jul 2020
Cited by 11 | Viewed by 3847
Abstract
Pancreatic neuroendocrine tumours (PanNETs) are rare diseases and a good example of how research is not only feasible, but also of crucial importance in the scenario of rare tumours. Many clinical trials have been performed over the past two decades expanding therapeutic options [...] Read more.
Pancreatic neuroendocrine tumours (PanNETs) are rare diseases and a good example of how research is not only feasible, but also of crucial importance in the scenario of rare tumours. Many clinical trials have been performed over the past two decades expanding therapeutic options for patients with advanced PanNETs. Adequate management relies on optimal selection of treatment, which may be challenging for clinicians due to the fact that multiple options of therapy are currently available. A number of therapies already exist, which are supported by data from phase III studies, including somatostatin analogues and targeted therapies (sunitinib and everolimus). In addition, chemotherapy remains an option, with temozolomide and capecitabine being one of the most popular doublets to use. Peptide receptor radionuclide therapy was successfully implemented in patients with well-differentiated gastro-entero-pancreatic neuroendocrine tumours, but with certain questions waiting to be solved for the management of PanNETs. Finally, the role of immunotherapy is still poorly understood. In this review, the data supporting current systemic treatment options for locally advanced or metastatic PanNETs are summarized. Strategies for treatment selection in patients with PanNETs based on patient, disease, or drug characteristics is provided, as well as a summary of current evidence on prognostic and predictive biomarkers. Future perspectives are discussed, focusing on current and forthcoming challenges and unmet needs of patients with these rare tumours. Full article
(This article belongs to the Special Issue New Therapeutic Advances in Rare Tumors)
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13 pages, 747 KiB  
Review
Desmoid-Type Fibromatosis
by Dorian Yarih Garcia-Ortega, Karla Susana Martín-Tellez, Mario Cuellar-Hubbe, Héctor Martínez-Said, Alethia Álvarez-Cano, Moises Brener-Chaoul, Jorge Adán Alegría-Baños and Jorge Luis Martínez-Tlahuel
Cancers 2020, 12(7), 1851; https://doi.org/10.3390/cancers12071851 - 9 Jul 2020
Cited by 46 | Viewed by 5882
Abstract
Desmoid tumors represent a rare entity of monoclonal origin characterized by locally aggressive behavior and inability to metastasize. Most cases present in a sporadic pattern and are characterized by a mutation in the CTNNB1 gene; while 5–15% show a hereditary pattern associated with [...] Read more.
Desmoid tumors represent a rare entity of monoclonal origin characterized by locally aggressive behavior and inability to metastasize. Most cases present in a sporadic pattern and are characterized by a mutation in the CTNNB1 gene; while 5–15% show a hereditary pattern associated with APC gene mutation, both resulting in abnormal β-catenin accumulation within the cell. The most common sites of presentation are the extremities and the thoracic wall, whereas FAP associated cases present intra-abdominally or in the abdominal wall. Histopathological diagnosis is mandatory, and evaluation is guided with imaging studies ranging from ultrasound, computed tomography or magnetic resonance. Current approaches advocate for an initial active surveillance period due to the stabilization and even regression capacity of desmoid tumors. For progressive, symptomatic, or disabling cases, systemic treatment, radiotherapy or surgery may be used. This is a narrative review of this uncommon disease; we present current knowledge about molecular pathogenesis, diagnosis and treatment. Full article
(This article belongs to the Special Issue New Therapeutic Advances in Rare Tumors)
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2 pages, 193 KiB  
Erratum
Erratum: Hindi, N., et al. Trabectedin Plus Radiotherapy for Advanced Soft-Tissue Sarcoma: Experience in Forty Patients Treated at a Sarcoma Reference Center. Cancers 2020, 12, 3740
by Nadia Hindi, Irene Carrasco García, Alberto Sánchez-Camacho, Antonio Gutierrez, Javier Peinado, Inmaculada Rincón, Johanna Benedetti, Pilar Sancho, Paloma Santos, Paloma Sánchez-Bustos, David Marcilla, Victor Encinas, Sara Chacon, Cristobal Muñoz-Casares, David Moura and Javier Martin-Broto
Cancers 2021, 13(7), 1557; https://doi.org/10.3390/cancers13071557 - 29 Mar 2021
Cited by 1 | Viewed by 1581
Abstract
The authors noticed that content of “Conflicts of Interest” in the original version [...] Full article
(This article belongs to the Special Issue New Therapeutic Advances in Rare Tumors)
9 pages, 1024 KiB  
Commentary
The Identity of PDGFRA D842V-Mutant Gastrointestinal Stromal Tumors (GIST)
by Alessandro Rizzo, Maria Abbondanza Pantaleo, Annalisa Astolfi, Valentina Indio and Margherita Nannini
Cancers 2021, 13(4), 705; https://doi.org/10.3390/cancers13040705 - 9 Feb 2021
Cited by 13 | Viewed by 4600
Abstract
The majority of gastrointestinal stromal tumors (GIST) carry a sensitive primary KIT mutation, but approximately 5% to 10% of cases harbor activating mutations of platelet-derived growth factor receptor (PDGFRA), mainly involving the A-loop encoded by exon 18 (~5%), or more rarely the JM [...] Read more.
The majority of gastrointestinal stromal tumors (GIST) carry a sensitive primary KIT mutation, but approximately 5% to 10% of cases harbor activating mutations of platelet-derived growth factor receptor (PDGFRA), mainly involving the A-loop encoded by exon 18 (~5%), or more rarely the JM domain, encoded by exon 12 (~1%), or the ATP binding domain encoded by exon 14 (<1%). The most frequent mutation is the substitution at position 842 in the A-loop of an aspartic acid (D) with a valine (V) in exon 18, widely recognized as D842V. This mutation, as well known, provides primary resistance to imatinib and sunitinib. Thus, until few years ago, no active drugs were available for this subtype of GIST. Conversely, recent years have witnessed the development of a new specific inhibitor—avapritinib—that has been studied in in vitro and clinical setting with promising results. In light of this primary resistance to conventional therapies, the biological background of D842V-mutant GIST has been deeply investigated to better understand what features characterize this peculiar subset of GIST, and some promising insights have emerged. Hereinafter, we present a comprehensive overview on the clinical features and the molecular background of this rare subtype of GIST. Full article
(This article belongs to the Special Issue New Therapeutic Advances in Rare Tumors)
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