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Rare cancers

Guest Editors

Atif A. Ahmed, MD, University of Washington, Seattle Children’s Hospital, USA 
Bruna Samia Dalmasso, MD, PhD, IRCCS Ospedale Policlinico San Martino, Italy 


BMC Cancer has published this Collection on Rare cancers. We focused on addressing key aspects of rare cancer research, including diagnostics, treatment strategies, and prognosis tools for rare cancer types such as hepatoblastoma, neuroendocrine tumors (NET), gall bladder cancer, Kaposi sarcoma, male breast cancer, retinoblastoma, vaginal cancers and more.

Meet the Guest Editors

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Atif A. Ahmed, MD, University of Washington, Seattle Children’s Hospital, USA

Dr Atif Ali Ahmed is a Professor of pediatric pathology at Seattle Children's Hospital, USA. He graduated from medical school in 1988, completed pathology residency and fellowship training in the US and is board-certification in Anatomic, Clinical and Pediatric Pathology. He has been in academic practice for more than 20 years with clinical and research experience in pediatric pathology. His research interests include pediatric tumors, bone pathology, and pediatric cancer biology, and he has authored over 100 academic publications including peer-reviewed articles, books and meeting abstracts. He is a member of the Children’s Oncology Group, the American Association for Cancer Research, the American Society of Human Genetics, and the College of American Pathologists. 

Bruna Samia Dalmasso, MD, PhD, IRCCS Ospedale Policlinico San Martino, Italy 

Dr Bruna Samia Dalmasso, MD, PhD, is Medical Consultant at the Genetics of Rare Cancers Unit of IRCCS Ospedale Policlinico San Martino, Genoa, Italy. She received her Medical Degree at the University of Genoa. After specializing in Internal Medicine, she completed her doctoral training in Cancer Genetics. 

Her research activity includes the identification of genetic determinants of cancer risk, as well as the influence of germline variants on cancer evolution and response to treatment, with a particular focus on melanoma, pancreatic cancer and rare cancers.

About the Collection

Rare cancer, defined as a cancer with fewer than six cases per 100,000 per year, are traditionally understudied. These cancers pose a particular challenge for researchers. With fewer clinical trials and limited data for reference, they can be difficult to diagnose and treat with certainty. In light of these challenges, BMC Cancer has published this Collection on Rare cancers to highlight new and recent research on a range of rare cancer related topics, including but not limited to:

  • Rare cancer types
  • The incidence, prevalence, and factors contributing to the development of rare cancers
  • Innovative approaches and diagnostic tools that enable early detection and accurate diagnoses
  • Novel treatment modalities, targeted therapies, immunotherapies, and precision medicine
  • Genetic and molecular underpinnings of rare cancers
  • Findings from clinical trials and translational research


Please note that BMC Cancer is not considering case reports. You will find a full list of articles types considered at the journal here.

Image credit: Dvarg / stock.adobe.com

  1. Cancers affecting < 6/100,000/year are classified as rare, but they account for up to 25% of all cancers and are associated with worse 5-year survival than common cancers. Early-phase clinical trials (EPCTs) m...

    Authors: Angelos Angelakas, Natalie Cook, Donna M. Graham, Matthew Krebs, Fiona Thistlethwaite and Louise Carter
    Citation: BMC Cancer 2025 25:558
  2. Osteosarcoma is a rare tumor with poor clinical outcomes. New therapeutic targets are urgently needed. Previous research indicates that genes abnormally expressed in osteosarcoma are significantly involved in ...

    Authors: Yaling Wang, Peichun HSU, Haiyan Hu, Feng Lin and Xiaokang Wei
    Citation: BMC Cancer 2025 25:445
  3. With the advent of asparaginase-based drugs, patients with natural killer/T-cell lymphoma (NKTCL) have achieved excellent efficacy. However, the prognosis is poor in patients with advanced disease, and even wo...

    Authors: Jiao Yang, Xinyu Xue, Yanfeng Ma, Xuemei Wang and Caigang Xu
    Citation: BMC Cancer 2025 25:385
  4. To identify the prognosis of Japanese patients with collecting duct carcinoma (CDC).

    Authors: Shuya Kandori, Shuhei Suzuki, Kosuke Kojo, Bunpei Isoda, Takazo Tanaka, Satoshi Nitta, Masanobu Shiga, Yoshiyuki Nagumo, Atsushi Ikeda, Takashi Kawahara, Akio Hoshi, Hiromitsu Negoro, Bryan J. Mathis, Ayako Okuyama and Hiroyuki Nishiyama
    Citation: BMC Cancer 2025 25:138
  5. Neuroendocrine cervical carcinoma (NECC) is a rare but highly aggressive tumor. The clinical management of NECC follows neuroendocrine neoplasms and cervical cancer in general. However, the diagnosis and progn...

    Authors: Tao Shen, Tingting Dong, Haiyang Wang, Yi Ding, Jianuo Zhang, Xinyi Zhu, Yeping Ding, Wen Cai, Yalan Wei, Qiao Wang, Sufen Wang, Feiyun Jiang and Bin Tang
    Citation: BMC Cancer 2025 25:57
  6. The study was designed to evaluate molecular alterations, relevant to the prognosis and personalized therapy of salivary gland cancers (SGCs).

    Authors: Julia Pikul, Marcin M. Machnicki, Anna Rzepakowska, Natalia Winiarska, Agnieszka Chudy, Albert Moskowicz, Kacper Król, Łukasz Fus, Grażyna Kostrzewa and Tomasz Stokłosa
    Citation: BMC Cancer 2025 25:42
  7. The diagnosis of rare uterine leiomyosarcoma (uLMS) remains a challenge given the high incidence rates of benign uterine tumors such as leiomyoma (LM). In the last decade, several clinical scores and blood ser...

    Authors: Marcus Vollmer, Günter Köhler, Julia Caroline Radosa, Marek Zygmunt, Julia Zimmermann, Martina Köller, Christine Seitz, Helena Bralo, Marc Philipp Radosa, Askin Cangül Kaya, Johann Krichbaum, Erich-Franz Solomayer, Lars Kaderali and Zaher Alwafai
    Citation: BMC Cancer 2025 25:33
  8. Small Bowel Adenocarcinoma (SBA) is a rare gastrointestinal cancer with a limited understanding of the molecular pathology. This study aims to bridge the knowledge gap, providing a robust molecular foundation ...

    Authors: Rasmus Haunstrup Døssing, Julia Johanna Almer Broman, Colm J. O’Rourke, Elizaveta Mitkina Tabaksblat, Jesper Bøje Andersen, Carsten Palnæs Hansen, Tim Svenstrup Poulsen, Estrid V. S. Høgdall, Jakob Hagen Vasehus Schou and Dan Høgdall
    Citation: BMC Cancer 2025 25:22
  9. Hepatic sarcomatoid carcinoma (HSC) and hepatic sarcoma (HS) are rare malignancies. Without pathology, the differential diagnosis between these two tumors is difficult due to their frequent overlaps in clinica...

    Authors: Xingyun Long, Haiyun Shen, Jie Wu, Han Liu, Danqing Huang and Wentao Kong
    Citation: BMC Cancer 2025 25:2
  10. The aim of this study is to explore the clinicopathological features, radiographic manifestations, treatment options, and prognosis of primary pulmonary angiosarcoma (PPAS).

    Authors: Tao Luan, Jianqing Hao, Yingying Gu, Ping He, Yijia Li, Liqiang Wang, Haiyi Deng, Wenhui Guan, Xinqing Lin, Xiaohong Xie, Yu Deng, Shuaiying Wang, Changchun Wang, Jingxu Li, Ru Li, Yang Luan…
    Citation: BMC Cancer 2024 24:1597
  11. This study aimed to identify the risk factors associated with ampullary duodenal carcinoma (a-DC) and develop a clinical model to dynamically and accurately predict the risk of lymph node metastasis (LNM) in a...

    Authors: Ran Ni, Tianpeng Zhang, Yixuan Mou, Zhiming Hu and Zongting Gu
    Citation: BMC Cancer 2024 24:1363
  12. Ki67 index changes during the treatment of metastatic pancreatic neuroendocrine tumor (PanNET) treatment. The study aimed to detect alterations of grade based on Ki67 index and immune microenvironment in PanNE...

    Authors: Heli Gao, Wuhu Zhang, Zheng Li, Wensheng Liu, Mengqi Liu, Qifeng Zhuo, Yihua Shi, Wenyan Xu, Chenjie Zhou, Yi Qin, Jin Xu, Jie Chen, Xianjun Yu, Xiaowu Xu and Shunrong Ji
    Citation: BMC Cancer 2024 24:1362
  13. The combination of immunotherapy and antiangiogenic therapy has shown potential in the treatment of numerous malignant tumors, but limited evidence was available for soft tissue sarcomas (STS). Therefore, the ...

    Authors: Shaoli Li, Qunan Sun, Rui Bai, Youping Wang, Hui Wang, Haifeng Chen and Ying Dong
    Citation: BMC Cancer 2024 24:1028
  14. Owing to the lack of evidence-based medical studies with large sample sizes, the surgical approach for the radical resection of rectal neuroendocrine tumors remains controversial.

    Authors: Xinyu Zeng, Chengguo Li, Minhao Yu, Rui Zhang, Guole Lin, Maojun Di, Hongxue Wu, Yueming Sun, Zhiguo Xiong, Congqing Jiang, Bin Yu, Shengning Zhou, Yong Li, Xiaofeng Liao, Lijian Xia, Wei Zhang…
    Citation: BMC Cancer 2024 24:956
  15. Retroperitoneal liposarcoma (RLPS) constitutes the majority of retroperitoneal sarcomas. While surgical resection remains the sole curative approach, determining the optimal surgical strategy for RLPS remains ...

    Authors: Dao-Ning Liu, Liang Yan, Zhong-Wu Li, Hai-Yue Wang, Xiu-Yun Tian, Ang Lv and Chun-Yi Hao
    Citation: BMC Cancer 2024 24:855
  16. Craniopharyngioma (CP) is a rare malformational tumor characterized by high rates of recurrence and morbid obesity. However, the role of inflammatory mediators in obesity and the prognosis of patients with CP ...

    Authors: Youchao Xiao, Wentao Wu, Fangzheng Liu, Yanfei Jia, Lu Jin, Ning Qiao, Kefan Cai, Siming Ru, Lei Cao and Songbai Gui
    Citation: BMC Cancer 2024 24:799
  17. Wilms tumor (WT) is the most common pediatric embryonal tumor. Improving patient outcomes requires advances in understanding and targeting the multiple genes and cellular control pathways, but its pathogenesis...

    Authors: Qiang Zeng, Tingting Liu, Lilu Qin, Chen Wang, Guangbei Peng, Zhong Liu and Junfeng Tao
    Citation: BMC Cancer 2024 24:771
  18. Thymic epithelial tumors (TETs) are rare neoplasms often associated with immune-related disorders. Patients with Good’s syndrome (GS), an adult-acquired TET-related immunodeficiency, are at a high risk of mort...

    Authors: Erica Pietroluongo, Annarita Peddio, Pietro De Placido, Marianna Tortora, Margaret Ottaviano, Monica Gelzo, Gustavo Cernera, Maria Foggia, Antonio Riccardo Buonomo, Biagio Pinchera, Emanuela Zappulo, Simona Mercinelli, Letizia Cattaneo, Alessia Sardanelli, Giulio Viceconte, Riccardo Scotto…
    Citation: BMC Cancer 2024 24:748
  19. International guidelines recommend ivosidenib followed by modified FOLFOX (mFOLFOX) for advanced intrahepatic cholangiocarcinoma (ICC) with isocitrate dehydrogenase 1 (IDH1) mutations. Taiwan National Health Insu...

    Authors: Kuei-An Chen, Wei-Ming Huang, Eric Yi-Ting Chen, Pei-Kuan Ho, Chen-Han Chueh, Yu-Wen Wen, Ming-Huang Chen, Nai-Jung Chiang and Yi-Wen Tsai
    Citation: BMC Cancer 2024 24:622
  20. With the increasing of novel therapeutics for the treatment of Biliary Tract Cancers (BTC), and the need to assess their socio-economic impacts for national licence approvals, it is as important as ever to hav...

    Authors: Valentina Zanuso, Tamsin Nash, Raffaella Casolino, Gregory Armstrong, Ona Pallise, Jen Milne and Chiara Braconi
    Citation: BMC Cancer 2024 24:597
  21. Biliary tract cancers (BTCs) are rare and lethal cancers, with a 5-year survival inferior to 20%(1–3). The only potential curative treatment is surgical resection. However, despite complex surgical procedures ...

    Authors: Monica Niger, Federico Nichetti, Lorenzo Fornaro, Chiara Pircher, Federica Morano, Federica Palermo, Lorenza Rimassa, Tiziana Pressiani, Rossana Berardi, Andrea Casadei Gardini, Elisa Sperti, Lisa Salvatore, Davide Melisi, Francesca Bergamo, Salvatore Siena, Stefania Mosconi…
    Citation: BMC Cancer 2024 24:436

    The Correction to this article has been published in BMC Cancer 2024 24:563

Submission Guidelines

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This Collection welcomes submission of original Research Articles. Should you wish to submit a different article type, please read our submission guidelines to confirm that type is accepted by the journal. Articles for this Collection should be submitted via our submission system, Snapp. During the submission process you will be asked whether you are submitting to a Collection, please select "Rare cancers" from the dropdown menu.

Articles will undergo the journal’s standard peer-review process and are subject to all of the journal’s standard policies. Articles will be added to the Collection as they are published.

The Editors have no competing interests with the submissions which they handle through the peer review process. The peer review of any submissions for which the Editors have competing interests is handled by another Editorial Board Member who has no competing interests.