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Rare cancers

The rare cancers section of the OJRD publishes articles on the epidemiology, aetiology, description, characterization (in terms of molecular and cellular biology), pathology, clinical behavior, and response to treatment of rare cancers. Articles include a multidisciplinary assessment, covering the different aspects of a novel disease entity, from preclinical experiments to translational and clinical research. Descriptions of novel entities, molecular subtypes, etiology, and pioneering work of clinical research of these rare subtypes are welcome.

  1. Content type: Research

    Patients with a neuroendocrine tumour (NET) frequently have physical and psychosocial complaints. Aim of this study is to determine whether a web-based, personalised information and support system (WINS) reduc...

    Authors: L. D. de Hosson, G. Bouma, J. Stelwagen, H. van Essen, G. H. de Bock, D. J. A. de Groot, E. G. E. de Vries and A. M. E. Walenkamp

    Citation: Orphanet Journal of Rare Diseases 2019 14:60

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  2. Content type: Research

    Patients with multiple endocrine neoplasia type 1 (MEN-1) develop multiple pancreatic neuroendocrine neoplasias (PNENs). Size at diagnosis and growth during follow-up are crucial parameters. According to the W...

    Authors: Andreas Selberherr, Oskar Koperek, Philipp Riss, Christian Scheuba, Martin B. Niederle, Reto Kaderli, Aurel Perren and Bruno Niederle

    Citation: Orphanet Journal of Rare Diseases 2019 14:54

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  3. Content type: Research

    Evaluation of evidence for efficacy of orphan medicinal products (OMPs) for rare malignancies may be hampered by the use of tumor measurements instead of clinical endpoints. This may cause efficacy data to not...

    Authors: Yvonne Schuller, Marieke Biegstraaten, Carla E. M. Hollak, Heinz-Josef Klümpen, Christine C. Gispen-de Wied and Violeta Stoyanova-Beninska

    Citation: Orphanet Journal of Rare Diseases 2018 13:214

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  4. Content type: Research

    Demonstrating treatment benefits within clinical trials in the context of rare diseases is often methodologically and practically challenging. Mixed methods research offers an approach to overcome these challe...

    Authors: Murtuza Bharmal, Isabelle Guillemin, Alexia Marrel, Benoit Arnould, Jérémy Lambert, Meliessa Hennessy and Fatoumata Fofana

    Citation: Orphanet Journal of Rare Diseases 2018 13:95

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  5. Content type: Research

    Optic pathway gliomas (OPGs) are present in 20% of children with neurofibromatosis 1 (NF1) but are less frequently observed in adults. Our goal was to determine the natural history of OPGs in children and adul...

    Authors: Laura Sellmer, Said Farschtschi, Marco Marangoni, Manraj K. S. Heran, Patricia Birch, Ralph Wenzel, Victor-Felix Mautner and Jan M. Friedman

    Citation: Orphanet Journal of Rare Diseases 2018 13:62

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  6. Content type: Research

    Von Hippel-Lindau (VHL) disease is a rare oncological disease with an incidence of 1:36,000, and is characterized by the growth of different types of tumours. Haemangioblastomas in the central nervous system (...

    Authors: Virginia Albiñana, Rosa María Jiménez Escribano, Isabel Soler, Luis Rodríguez Padial, Lucia Recio-Poveda, Karina Villar Gómez de las Heras and Luisa María Botella

    Citation: Orphanet Journal of Rare Diseases 2017 12:122

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  7. Content type: Research

    Known as solid tumors of intermediate malignant potential, most inflammatory myofibroblastic tumors (IMTs) are treatable as long as the tumor is en-bloc resected. However, in some cases, the tumors have recurr...

    Authors: Quan Jiang, Han-Xing Tong, Ying-Yong Hou, Yong Zhang, Jing-Lei Li, Yu-Hong Zhou, Jing Xu, Jiong-Yuan Wang and Wei-Qi Lu

    Citation: Orphanet Journal of Rare Diseases 2017 12:97

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  8. Content type: Research

    Rare peritoneal cancers represent complex clinical situations requiring a specific and multidisciplinary management. Because of their rarity, lack of awareness and knowledge often leads to diagnostic delays an...

    Authors: L. Villeneuve, G. Passot, O. Glehen, S. Isaac, F. Bibeau, P. Rousset and F. N. Gilly

    Citation: Orphanet Journal of Rare Diseases 2017 12:37

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  9. Content type: Research

    Orphan designated medicinal products benefit from regulatory and economic incentives for orphan drug development. Approximately 40% of orphan designations target rare neoplastic disorders, referring to rare ca...

    Authors: Kim Pauwels, Isabelle Huys, Minne Casteels, Kristina Larsson, Caroline Voltz, Karri Penttila, Thomas Morel and Steven Simoens

    Citation: Orphanet Journal of Rare Diseases 2017 12:36

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  10. Content type: Research

    Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Many gaps remain in the understanding of TSC because of the complexity in clinical presentation. The TuberOus SClerosis registry to ...

    Authors: John C. Kingswood, Guillaume B. d’Augères, Elena Belousova, José C. Ferreira, Tom Carter, Ramon Castellana, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Petrus J. de Vries, Martha Feucht, Carla Fladrowski, Gabriella Gislimberti, Christoph Hertzberg, Sergiusz Jozwiak, John A. Lawson…

    Citation: Orphanet Journal of Rare Diseases 2017 12:2

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  11. Content type: Review

    Endometrial stromal sarcomas (ESSs) belong to the rarest uterine malignancies (prevalence category <1-9/1,000,000). According to the new 2014 World Health Organisation (WHO) classification, they are separated ...

    Authors: Andelko Hrzenjak

    Citation: Orphanet Journal of Rare Diseases 2016 11:15

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  12. Content type: Review

    Paediatric chordomas are rare malignant tumours arising from primitive notochordal remnants with a high rate of recurrence. Only 5 % of them occur in the first two decades such less than 300 paediatric cases h...

    Authors: Kévin Beccaria, Christian Sainte-Rose, Michel Zerah and Stéphanie Puget

    Citation: Orphanet Journal of Rare Diseases 2015 10:116

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  13. Content type: Research

    Rapamycin has gained significant attention for its potential activity in reducing the size of TSC-associated tumors, thus providing alternative to surgery. This study aimed at determining the efficacy of rapam...

    Authors: Teguh Haryo Sasongko, Nur Farrah Dila Ismail, Nik Mohamad Ariff Nik Abdul Malik and Z. A. M. H. Zabidi-Hussin

    Citation: Orphanet Journal of Rare Diseases 2015 10:95

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  14. Content type: Research

    EBV-associated T/NK-cell lymphoproliferative diseases (TNKLPD) is a rare spectrum of disease that occurs more commonly in Asia, and Central and South America. It commonly affects children and young adults and ...

    Authors: Siok-Bian Ng, Koichi Ohshima, Viknesvaran Selvarajan, Gaofeng Huang, Shoa-Nian Choo, Hiroaki Miyoshi, Shi Wang, Hsin-Chieh Chua, Allen Eng-Juh Yeoh, Thuan-Chong Quah, Liang-Piu Koh, Poh-Lin Tan and Wee-Joo Chng

    Citation: Orphanet Journal of Rare Diseases 2014 9:165

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  15. Content type: Research

    Subcutaneous panniculitis-like T cell lymphomas represent a rare and difficult to diagnose entity of cutaneous T cell lymphomas. SPTL affects predominantly young adults and presents with multifocal subcutaneou...

    Authors: Pilvi Maliniemi, Sonja Hahtola, Kristian Ovaska, Leila Jeskanen, Liisa Väkevä, Kirsi Jäntti, Rudolf Stadler, David Michonneau, Sylvie Fraitag, Sampsa Hautaniemi and Annamari Ranki

    Citation: Orphanet Journal of Rare Diseases 2014 9:160

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