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Oncology, adult

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. Mucinous colon cancers (MCC) are characterized by abundant production of mucin 2 (MUC2) protein and are less sensitive to standard systemic chemotherapy. We postulated that severe/persistent endoplasmic reticu...

    Authors: Ashok K. Dilly, Brendon D. Honick, Yong J. Lee, David L. Bartlett and Haroon A. Choudry
    Citation: Orphanet Journal of Rare Diseases 2020 15:211
    Content type: Research Published on:

  2. NUT midline carcinoma (NMC), a rare type of squamous cell carcinoma, is genetically characterised by NUT midline carcinoma family member 1 (NUTM1) gene rearrangement. NMC can arise from the lungs; however, the...

    Authors: Xiao-Hong Xie, Li-Qiang Wang, Yin-Yin Qin, Xin-Qing Lin, Zhan-Hong Xie, Ming Liu, Jie-Xia Zhang, Ming Ouyang, Jun Liu, Ying-Ying Gu, Shi-Yue Li and Cheng-Zhi Zhou
    Citation: Orphanet Journal of Rare Diseases 2020 15:183
    Content type: Research Published on:

  3. Fanconi anemia is a rare disease clinically characterized by malformations, bone marrow failure and an increased risk of solid tumors and hematologic malignancies. The only therapies available are hematopoieti...

    Authors: Helena Montanuy, Cristina Camps-Fajol, Jordi Carreras-Puigvert, Maria Häggblad, Bo Lundgren, Miriam Aza-Carmona, Thomas Helleday, Jordi Minguillón and Jordi Surrallés
    Citation: Orphanet Journal of Rare Diseases 2020 15:170
    Content type: Research Published on:

  4. Von Hippel-Lindau syndrome (VHL) is a rare disease of dominant inheritance that increases susceptibility to tumor development, with a complete penetrance at the age of 60. In this report, we present the unprec...

    Authors: Isabel de Rojas-P, Virginia Albiñana, Lucía Recio-Poveda, Amanda Rodriguez-Rufián, Ángel M. Cuesta and Luisa-María Botella
    Citation: Orphanet Journal of Rare Diseases 2020 15:132
    Content type: Letter to the Editor Published on:

  5. Primary neuroendocrine carcinomas of the gallbladder and biliary tract are rare, with pure large cell neuroendocrine carcinomas (LCNEC) being exceedingly rare and with a particularly poor prognosis.

    Authors: Riva Raiker, Aman Chauhan, Hassan Hasanein, Grant Burkeen, Millicent Horn, Janeesh Veedu, Cory Vela, Susanne Arnold, Jill Kolesar, Lowell Anthony, B. Mark Evers and Michael Cavnar
    Citation: Orphanet Journal of Rare Diseases 2019 14:266
    Content type: Review Published on:

  7. 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
    Content type: Research Published on:

  8. 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
    Content type: Research Published on:

  9. 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
    Content type: Research Published on:

  10. 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
    Content type: Research Published on:

  11. 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
    Content type: Research Published on:

  12. 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
    Content type: Research Published on:

  13. 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
    Content type: Research Published on:

  14. 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
    Content type: Research Published on:

  15. 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
    Content type: Research Published on:

  16. 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
    Content type: Research Published on:

  17. 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
    Content type: Review Published on:

  18. 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
    Content type: Review Published on:

  19. 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
    Content type: Research Published on:

  20. 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
    Content type: Research Published on:

  21. 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
    Content type: Research Published on:

Orphanet Journal of Rare Diseases

ISSN: 1750-1172