Cancer Research and Treatment

Original Articles

Breast cancer

Trastuzumab Biosimilar (HLX02), Pertuzumab Plus Chemotherapy in Patients with HER2-Positive Metastatic Breast Cancer after Progression of Trastuzumab: A Prospective, Phase II Study: Ruyan Zhang, Xiaoran Liu, Guohong Song, Yan Zhang, Huiping Li; Cancer Res Treat. 2024;56(3):795-801. Published online December 20, 2023; DOI: https://doi.org/10.4143/crt.2023.1151

Abstract PDF PubReader ePub: Purpose
This study aims to evaluate the efficacy and safety of trastuzumab biosimilar (HLX02) in combination with pertuzumab and chemotherapy in patients with human epidermal growth factor receptor 2 (HER2)–positive metastatic breast cancer (MBC) after progression of trastuzumab.
Materials and Methods
In this prospective, single-arm, phase II study, patients with HER2-positive MBC after progression of trastuzumab received pertuzuamb, HLX02, and chemotherapy in Beijing Cancer Hospital from March 2020 to December 2022. The primary endpoint was progression-free survival (PFS), and secondary endpoints included objective response rate (ORR), disease control rate (DCR), overall survival (OS), and safety. The study was registered with ClinicalTrials.gov (NCT05188495).
Results
A total of 45 patients were included in this study. Twelve patients (26.7%) were treated in second-line and 33 patients (73.3%) were in third-line and later setting. Eighty percent and 15.5% patients had previously received pyrotinib/lapatinib and T-DM1, respectively. With a median follow-up of 24.4 months (range, 1.2 to 43.9 months), the median PFS was 7.6 months (95% confidence interval, 4.3 to 10.9), OS was not reached, the ORR was 31.1%, and DCR was 91.1%. The treatment was well tolerated.
Conclusion
The combination of trastuzumab biosimilar HLX02, pertuzumab, and chemotherapy exhibited promising efficacy and a favorable safety profile as second- and beyond-line treatment in HER2-positive MBC.

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Gastrointestinal Cancer

Effect of Preoperative Tumor Under-Staging on the Long-term Survival of Patients Undergoing Radical Gastrectomy for Gastric Cancer: Mi Lin, Qi-Yue Chen, Chao-Hui Zheng, Ping Li, Jian-Wei Xie, Jia-Bin Wang, Jian-Xian Lin, Chang-Ming Huang; Cancer Res Treat. 2021;53(4):1123-1133. Published online March 5, 2021; DOI: https://doi.org/10.4143/crt.2020.651

Abstract PDF Supplementary Material PubReader ePub

Purpose
This study aimed to evaluate the effect of preoperative tumor staging deviation (PTSD) on the long-term survival of patients undergoing radical gastrectomy for gastric cancer (RGGC).
Materials and Methods
Clinicopathological data of 2,346 patients who underwent RGGC were retrospectively analyzed. The preoperative tumor-lymph node-metastasis (TNM) under-staging group (uTNM) comprised patients who had earlier preoperative TNM than postoperative TNM, and the no preoperative under-staging group (nTNM) comprised the remaining patients.
Results
There were 1,031 uTNM (44.0%) and 1,315 nTNM cases (56.0%). Cox prognostic analysis revealed that PTSD independently affected the overall survival (OS) after surgery. The 5-year OS was lower in the uTNM group (41.8%) than in the nTNM group (71.6%). The patients less than 65 years old, with lower American Society of Anaesthesiologists score, 2-5 cm tumor located at the lower stomach, and cT1 or cN0 preoperative staging would more likely undergo D1+ lymph node dissection (LND) in uTNM (p < 0.05). Logistic analyses revealed that tumor size > 2 cm and body mass index ≤ 22.72 kg/m2 were independent risk factors of preoperative TNM tumor under-staging in patients with cT1N0M0 staging (p < 0.05).
Conclusion
Underestimated tumor staging is not rare, which possibly results in inadequate LND and affects the long-term survival for patients undergoing RGGC. D2 LND should be carefully performed in patients who are predisposed to this underestimation.

Citations

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Preoperative prediction of gastric cancer T-staging based on ordinal regression models
O. V. Krasko, M. Yu. Reutovich, A. L. Patseika
Informatics.2024; 21(2): 36. CrossRef
rhG-CSF is associated with an increased risk of metastasis in NSCLC patients following postoperative chemotherapy
Yong Wang, Chen Fang, Renfang Chen, Shangkun Yuan, Lin Chen, Xiaotong Qiu, Xiaoying Qian, Xinwei Zhang, Zhehao Xiao, Qian Wang, Biqi Fu, Xiaoling Song, Yong Li
BMC Cancer.2022;[Epub] CrossRef
Factors of Organizing Surgical Treatment of Upper Gastrointestinal Cancers and Patient Survival: Real-World Data
D. A. Andreev, A. A. Zavyalov
Russian Journal of Gastroenterology, Hepatology, Coloproctology.2022; 32(6): 20. CrossRef

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Genitourinary Cancer

Neoadjuvant Chemotherapy–Guided Bladder-Sparing Treatment for Muscle-Invasive Bladder Cancer: Results of a Pilot Phase II Study: Hongzhe Shi, Wen Zhang, Xingang Bi, Dong Wang, Zejun Xiao, Youyan Guan, Kaopeng Guan, Jun Tian, Hongsong Bai, Linjun Hu, Chuanzhen Cao, Weixing Jiang, Zhilong Hu, Jin Zhang, Yan Chen, Shan Zheng, Xiaoli Feng, Changling Li, Yexiong Li, Jianhui Ma, Yueping Liu, Aiping Zhou, Jianzhong Shou; Cancer Res Treat. 2021;53(4):1156-1165. Published online February 10, 2021; DOI: https://doi.org/10.4143/crt.2020.1356

Abstract PDF Supplementary Material PubReader ePub

Purpose
Reduced quality of life after cystectomy has made bladder preservation a popular research topic for muscle-invasive bladder cancer (MIBC). Previous research has indicated significant tumor downstaging after neoadjuvant chemotherapy (NAC). However, maximal transurethral resection of bladder tumor (TURBT) was performed before NAC to define the pathology, impacting the real evaluation of NAC. This research aimed to assess real NAC efficacy without interference from TURBT and apply combined modality therapies guided by NAC efficacy.
Materials and Methods
Patients with cT2-4aN0M0 MIBC were confirmed by cystoscopic biopsy and imaging. NAC efficacy was assessed by imaging, urine cytology, and cystoscopy with multidisciplinary team discussion. Definite responders (≤ T1) underwent TURBT plus concurrent chemoradiotherapy. Incomplete responders underwent radical cystectomy or partial cystectomy if feasible. The primary endpoint was the bladder preservation rate.
Results
Fifty-nine patients were enrolled, and the median age was 63 years. Patients with cT3-4 accounted for 75%. The median number of NAC cycles was three. Definite responders were 52.5%. The complete response (CR) was 10.2%, and 59.3% of patients received bladder-sparing treatments. With a median follow-up of 44.6 months, the 3-year overall survival (OS) was 72.8%. Three-year OS and relapse-free survival were 88.4% and 60.0% in the bladder-sparing group but only 74.3% and 37.5% in the cystectomy group. The evaluations of preserved bladder function were satisfactory.
Conclusion
After stratifying MIBC patients by NAC efficacy, definite responders achieved a satisfactory bladder-sparing rate, prognosis, and bladder function. The CR rate reflected the real NAC efficacy for MIBC. This therapy is worth verifying through multicenter research.

Citations

Citations to this article as recorded by

Concomitant chemotherapy in trimodal treatment of patients with muscle invasive bladder cancer: A systematic review of prospective trials
Camille Baudelin, Paul Sargos, Derek Dinart, Christophe Hennequin, Diego Teyssonneau, Lucie Meynard, Nam-Son Vuong, Félix Lefort, Michael Baboudjian, Guilhem Roubaud
Critical Reviews in Oncology/Hematology.2025; 205: 104557. CrossRef
Does Bladder Cancer Subtype Influence Pathologic Complete Response (pCR) and Pelvic Diffusion-Weighted Magnetic Resonance Imaging (DW-MRI) Response Evaluation After Neoadjuvant Chemotherapy? Pathological Perspective
Ji Min Kim, Euno Choi, Sun Hee Sung, Jungmin Jo, Dong-Hyeon Lee, Sanghui Park
Clinical Genitourinary Cancer.2024; 22(2): 224. CrossRef
A comparative analysis of radical cystectomy with perioperative chemotherapy, chemoradiation therapy, or systemic therapy in patients with clinically advanced node-positive bladder cancer (cN2/N3)
Harshit Garg, Mukund Bhandari, Furkan Dursun, Michael A. Liss, Dharam Kaushik, Robert S. Svatek, Ahmed M. Mansour
Frontiers in Oncology.2024;[Epub] CrossRef
Clinical efficacy analysis of partial cystectomy and radical cystectomy in the treatment of muscle-invasive sarcomatoid carcinoma of the urinary bladder
Jiansheng Xiao, Hua Chen, Jiaqi Ge, Tairong Liu
Frontiers in Oncology.2024;[Epub] CrossRef
Downstaging guided neoadjuvant strategy shift and bladder preservation in locally advanced bladder cancer: A case report
Gan Du, Zhichao Jiang, Wang Qu, Jin Zhang, Shan Zheng, Yueping Liu, Aiping Zhou, Hongzhe Shi, Jianzhong Shou
Heliyon.2024; 10(6): e27685. CrossRef
Editorial: Organ-sparing surgery for genitourinary cancers
Gongwei Long, Xingyuan Xiao, Haoran Liu, Yucong Zhang, Chunguang Yang
Frontiers in Oncology.2024;[Epub] CrossRef
News and prospects on radiotherapy for bladder cancer: Is trimodal therapy becoming the gold standard?
Olivier Riou, Christophe Hennequin, Jonathan Khalifa, Paul Sargos
Cancer/Radiothérapie.2024; 28(6-7): 623. CrossRef
Health-related quality of life after curative treatment for muscle-invasive bladder cancer
Elisabeth Grobet-Jeandin, Ugo Pinar, Jérôme Parra, Morgan Rouprêt, Thomas Seisen
Nature Reviews Urology.2023; 20(5): 279. CrossRef
Combined Modality Bladder-Sparing Therapy for Muscle-Invasive Bladder Cancer: How (Should) We Do It? A Narrative Review
Artur Lemiński, Wojciech Michalski, Bartłomiej Masojć, Krystian Kaczmarek, Bartosz Małkiewicz, Jakub Kienitz, Barbara Zawisza-Lemińska, Michał Falco, Marcin Słojewski
Journal of Clinical Medicine.2023; 12(4): 1560. CrossRef
Survival after sequential neoadjuvant chemotherapy followed by trimodal treatment or radical cystectomy for muscle-invasive bladder cancer
Pierre-Louis Reignier, Hélène Gauthier, Christophe Hennequin, Quiterie Aussedat, Evanguelos Xylinas, François Desgrandchamps, Stéphane Culine, Alexandra Masson-Lecomte, Clément Dumont
World Journal of Urology.2023; 41(11): 3249. CrossRef
Neoadjuvant chemotherapy with gemcitabine and cisplatin followed by selective bladder preservation chemoradiotherapy in muscle-invasive urothelial carcinoma of bladder
Hyun Hwan Sung, Hana Kim, Ryul Kim, Chan Kyo Kim, Ghee Young Kwon, Won Park, Wan Song, Byong Chang Jeong, Se Hoon Park
Investigative and Clinical Urology.2022; 63(2): 168. CrossRef
Disease Management of Clinical Complete Responders to Neoadjuvant Chemotherapy of Muscle-Invasive Bladder Cancer: A Review of Literature
Jie Wu, Rui-Yang Xie, Chuan-Zhen Cao, Bing-Qing Shang, Hong-Zhe Shi, Jian-Zhong Shou
Frontiers in Oncology.2022;[Epub] CrossRef
Contemporary Staging for Muscle-Invasive Bladder Cancer: Accuracy and Limitations
Patrick J. Hensley, Valeria Panebianco, Eugene Pietzak, Alexander Kutikov, Raghu Vikram, Matthew D. Galsky, Shahrokh F. Shariat, Morgan Roupret, Ashish M. Kamat
European Urology Oncology.2022; 5(4): 403. CrossRef

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Prognostic Value of TP53 Mutation for Transcatheter Arterial Chemoembolization Failure/Refractoriness in HBV-Related Advanced Hepatocellular Carcinoma: Miao Xue, Yanqin Wu, Wenzhe Fan, Jian Guo, Jialiang Wei, Hongyu Wang, Jizhou Tan, Yu Wang, Wang Yao, Yue Zhao, Jiaping Li; Cancer Res Treat. 2020;52(3):925-937. Published online March 30, 2020; DOI: https://doi.org/10.4143/crt.2019.533

Abstract PDF PubReader ePub

Purpose
This study aimed to investigate the clinicopathologic features and mutational landscape of patients with hepatitis B virus (HBV)–related advanced hepatocellular carcinomas (HCC) undergoing transcatheter arterial chemoembolization (TACE).
Materials and Methods
From January 2017 to December 2018, 38 patients newly diagnosed with HBV-related advanced HCC were enrolled in the final analysis. Their pathological tissues and corresponding blood samples before TACE treatment were collected for whole-exome sequencing. Response to TACE was evaluated at 1-3 months after two consecutive use of TACE. Predictive factors were analyzed by univariate and multivariate analyses in a bivariate Logistic regression model. Enrichment of related pathways of all driver genes were acquired using the gene set enrichment analysis (GSEA).
Results
Among 38 patients, 23 (60.5%) exhibited TACE failure/refractoriness. Patients with TACE failure/refractoriness showed higher frequency of TP53 mutation than their counterparts (p=0.020). Univariate and multivariate analyses showed that only vascular invasion and TP53 mutation were significantly correlated with TACE failure/refractoriness in HBV-related advanced HCC. Of the 16 patients without vascular invasion, eight (50.0%) had TP53 mutations, and TP53 mutation was associated with TACE failure/refractoriness (p=0.041). Moreover, GSEA showed that mitogen-activated protein kinase and apoptosis pathways induced by TP53 mutation were possibly associated with TACE failure/refractoriness.
Conclusion
Our study suggested that TP53 mutation was independently related with TACE efficacy, which may work via mitogen-activated protein kinase and apoptosis pathways. These findings may provide evidence to help distinguish patients who will particularly benefit from TACE from those who require more personalized therapeutic regimens and rigorous surveillance in HBV-related advanced HCC.

Citations

Citations to this article as recorded by

Therapeutic efficacy and prognostic indicators in re-resection for recurrent hepatocellular carcinoma: Insights from a retrospective study
Qi Fan, Pengcheng Wei, Delin Ma, Qian Cheng, Jie Gao, Jiye Zhu, Zhao Li
Surgery Open Science.2025; 23: 16. CrossRef
TP53 Mutation Predicts Worse Survival and Earlier Local Progression in Patients with Hepatocellular Carcinoma Treated with Transarterial Embolization
Ken Zhao, Anita Karimi, Luke Kelly, Elena Petre, Brett Marinelli, Erica S. Alexander, Vlasios S. Sotirchos, Joseph P. Erinjeri, Anne Covey, Constantinos T. Sofocleous, James J. Harding, William Jarnagin, Carlie Sigel, Efsevia Vakiani, Etay Ziv, Hooman Yar
Current Oncology.2025; 32(1): 51. CrossRef
Clinical Therapy: HAIC Combined with Tyrosine Kinase Inhibitors and Programmed Cell Death Protein-1 Inhibitors versus HAIC Alone for Unresectable Hepatocellular Carcinoma
Baokun Liu, Lujun Shen, Wen Liu, Zhiyong Zhang, Jieqiong Lei, Zhengguo Li, Qinquan Tan, Hengfei Huang, Xingdong Wang, Weijun Fan
Journal of Hepatocellular Carcinoma.2024; Volume 11: 1557. CrossRef
Enhanced interactions within microenvironment accelerates dismal prognosis in HBV-related HCC after TACE
Libo Wang, Jiahui Cao, Zaoqu Liu, Shitao Wu, Yin Liu, Ruopeng Liang, Rongtao Zhu, Weijie Wang, Jian Li, Yuling Sun
Hepatology Communications.2024;[Epub] CrossRef
Development and validation of survival prediction models for patients with hepatocellular carcinoma treated with transcatheter arterial chemoembolization plus tyrosine kinase inhibitors
Kun Huang, Haikuan Liu, Yanqin Wu, Wenzhe Fan, Yue Zhao, Miao Xue, Yiyang Tang, Shi-Ting Feng, Jiaping Li
La radiologia medica.2024; 129(11): 1597. CrossRef
Identification of BRD7 by whole-exome sequencing as a predictor for intermediate-stage hepatocellular carcinoma in patients undergoing TACE
Kun Huang, Yanqin Wu, Wenzhe Fan, Yue Zhao, Miao Xue, Haikuan Liu, Yiyang Tang, Jiaping Li
Journal of Cancer Research and Clinical Oncology.2023; 149(13): 11247. CrossRef
Prediction model of no-response before the first transarterial chemoembolization for hepatocellular carcinoma: TACF score
Jia-Wei Zhong, Dan-Dan Nie, Ji-Lan Huang, Rong-Guang Luo, Qing-He Cheng, Qiao-Ting Du, Gui-Hai Guo, Liang-Liang Bai, Xue-Yun Guo, Yan Chen, Si-Hai Chen
Discover Oncology.2023;[Epub] CrossRef
Mechanisms of Pharmacoresistance in Hepatocellular Carcinoma: New Drugs but Old Problems
Jose J.G. Marin, Marta R. Romero, Elisa Herraez, Maitane Asensio, Sara Ortiz-Rivero, Anabel Sanchez-Martin, Luca Fabris, Oscar Briz
Seminars in Liver Disease.2022; 42(01): 087. CrossRef
Non-Apoptotic Programmed Cell Death-Related Gene Signature Correlates With Stemness and Immune Status and Predicts the Responsiveness of Transarterial Chemoembolization in Hepatocellular Carcinoma
Guixiong Zhang, Wenzhe Fan, Hongyu Wang, Jie Wen, Jizhou Tan, Miao Xue, Jiaping Li
Frontiers in Cell and Developmental Biology.2022;[Epub] CrossRef
Plasma arginase-1 as a predictive marker for early transarterial chemoembolization refractoriness in unresectable hepatocellular carcinoma
Wei-Li Xia, Shi-Jun Xu, Yuan Guo, Xiao-Hui Zhao, Hong-Tao Hu, Yan Zhao, Quan-Jun Yao, Lin Zheng, Dong-Yang Zhang, Chen-Yang Guo, Wei-Jun Fan, Hai-Liang Li
Frontiers in Oncology.2022;[Epub] CrossRef
Useful genes for predicting the efficacy of transarterial chemoembolization in hepatocellular carcinoma
Yuan Guo, Hongtao Hu, Shijun Xu, Weili Xia, Hailiang Li
Journal of Cancer Research and Therapeutics.2022; 18(7): 1860. CrossRef
Development and Validation of a Predictive Model for Early Refractoriness of Transarterial Chemoembolization in Patients With Hepatocellular Carcinoma
Tian-Cheng Wang, Tian-Zhi An, Jun-Xiang Li, Zi-Shu Zhang, Yu-Dong Xiao
Frontiers in Molecular Biosciences.2021;[Epub] CrossRef
Transcatheter arterial chemoembolization followed by surgical resection for hepatocellular carcinoma: a focus on its controversies and screening of patients most likely to benefit
Zhan-Qi Wei, Yue-Wei Zhang
Chinese Medical Journal.2021; 134(19): 2275. CrossRef
Recent Updates of Transarterial Chemoembolilzation in Hepatocellular Carcinoma
Young Chang, Soung Won Jeong, Jae Young Jang, Yong Jae Kim
International Journal of Molecular Sciences.2020; 21(21): 8165. CrossRef

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Associations of Genetic Variations in Mismatch Repair Genes MSH3 and PMS1 with Acute Adverse Events and Survival in Patients with Rectal Cancer Receiving Postoperative Chemoradiotherapy: Jie Yang, Ying Huang, Yanru Feng, Hongmin Li, Ting Feng, Jinna Chen, Luxi Yin, Weihu Wang, Shulian Wang, Yueping Liu, Yongwen Song, Yexiong Li, Jing Jin, Wen Tan, Dongxin Lin; Cancer Res Treat. 2019;51(3):1198-1206. Published online December 26, 2018; DOI: https://doi.org/10.4143/crt.2018.527

Abstract PDF Supplementary Material PubReader ePub

Purpose
Mismatch repair (MMR) deficiency plays a critical role in rectal cancer. This study aimed to explore the associations between genetic variations in seven MMR genes and adverse events (AEs) and survival of patients with rectal cancer treated with postoperative chemoradiotherapy (CRT).
Materials and Methods
Fifty single nucleotide polymorphisms in seven MMR (MLH1, MLH3, MSH2, MSH3, MSH6, PMS1 and PMS2) genes were genotyped by Sequenom MassARRAY method in 365 patients with locally advanced rectal cancer receiving postoperative CRT. The associations between genotypes and AEs were measured by odds ratios and 95% confidence intervals (CIs) by unconditional logistic regression model. The associations between genetic variations and survival were computed by the hazard ratios and 95% CIs by Cox proportional regression model.
Results
The most common grade ≥ 2 AEs in those 365 patients, in decreasing order, were diarrhea (44.1%), leukopenia (29.6%), and dermatitis (18.9%). Except 38 cases missing, 61 patients (18.7%) died during the follow-up period. We found MSH3 rs12513549, rs33013 and rs6151627 significantly associated with the risk of grade ≥ 2 diarrhea. PMS1 rs1233255 had an impact on the occurrence of grade ≥2 dermatitis. Meanwhile, PMS1 rs4920657, rs5743030, and rs5743100 were associated with overall survival (OS) time of rectal cancer.
Conclusion
These results suggest that MSH3 and PMS1 polymorphisms may play important roles in AEs prediction and prognosis of rectal cancer patients receiving postoperative CRT, which can be potential genetic biomarkers for rectal cancer personalized treatment.

Citations

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CircPMS1 promotes proliferation of pulmonary artery smooth muscle cells, pulmonary microvascular endothelial cells, and pericytes under hypoxia
Xiaoyi Hu, Shang Wang, Hui Zhao, Yaqin Wei, Ruowang Duan, Rong Jiang, Wenhui Wu, Qinhua Zhao, Sugang Gong, Lan Wang, Jinming Liu, Ping Yuan
Animal Models and Experimental Medicine.2024; 7(3): 310. CrossRef
Systematic Review of Genetic Polymorphisms Associated with Acute Pain Induced by Radiotherapy for Head and Neck Cancers
Vivian Salama, Yimin Geng, Jillian Rigert, Clifton D. Fuller, Sanjay Shete, Amy C. Moreno
Clinical and Translational Radiation Oncology.2023; 43: 100669. CrossRef
Tumor-infiltrating lymphocytes, PD-L1, and MMR-deficiency combined characterization may identify subgroups of rectal cancer patients who would benefit from immunotherapy
Alexandra Giatromanolaki, Christos Kavazis, Anastasia G. Gkegka, Maria Kouroupi, Alexandra Tsaroucha, Michael Pitiakoudis, Michael I. Koukourakis
Immunobiology.2023; 228(6): 152756. CrossRef
SYVN1‐mediated ubiquitination and degradation of MSH3 promotes the apoptosis of lens epithelial cells
Xiaojuan Chen, Guowei Zhang, Pengfei Li, Jianfeng Yu, Lihua Kang, Bai Qin, Ying Wang, Jian Wu, Yong Wang, Junfang Zhang, Miaomiao Qin, Huaijin Guan
The FEBS Journal.2022; 289(18): 5682. CrossRef
Dietary methyl donor nutrients, DNA mismatch repair polymorphisms, and risk of colorectal cancer based on microsatellite instability status
Jimi Kim, Jeonghee Lee, Jae Hwan Oh, Dae Kyung Sohn, Aesun Shin, Jeongseon Kim, Hee Jin Chang
European Journal of Nutrition.2022; 61(6): 3051. CrossRef
Identification of a novel germline frameshift mutation p.D300fs of PMS1 in a patient with hepatocellular carcinoma
Xiaobin Li, Yuling Wu, Peisu Suo, Guifeng Liu, Lifeng Li, Xiaoni Zhang, Shifu Chen, Mingyan Xu, Lele Song
Medicine.2020; 99(5): e19076. CrossRef
Potential Functional Variants in DNA Repair Genes Are Associated with Efficacy and Toxicity of Radiotherapy in Patients with Non-Small-Cell Lung Cancer
Zhiguang Yang, Zhaoyu Liu
Journal of Oncology.2020; 2020: 1. CrossRef
Micronuclei Formation upon Radioiodine Therapy for Well-Differentiated Thyroid Cancer: The Influence of DNA Repair Genes Variants
Luís S. Santos, Octávia M. Gil, Susana N. Silva, Bruno C. Gomes, Teresa C. Ferreira, Edward Limbert, José Rueff
Genes.2020; 11(9): 1083. CrossRef

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Case Report

Erdheim-Chester Disease with Emperipolesis: A Unique Case Involving the Heart: Pengcheng Zhu, Naping Li, Lu Yu, Mariajose Navia Miranda, Guoping Wang, Yaqi Duan; Cancer Res Treat. 2017;49(2):553-558. Published online July 28, 2016; DOI: https://doi.org/10.4143/crt.2016.078

Abstract PDF PubReader ePub

Histiocytosis is an uncommon disease characterized by excessive accumulation of histiocytes. Here, we report a rare case of non-Langerhans-cell histiocytosis in a 51- year-old woman who presented with severe symptoms of pericardial effusion. Radiologic investigation also detected multiple bone (lower limbs, vertebrae, ribs, and ilium) lesions. Resected pericardium showed abundant mono- or multi-nucleated non-foamy histiocytes (CD68⁺/CD163⁺/S-100⁺/CD1α⁻/langerin⁻) in a fibroinflammatory background. The histiocytes demonstrated emperipolesis of lymphocytes, a hallmark feature of Rosai-Dorfman disease (RDD). However, molecular analysis revealed a BRAF V600E mutation of the proliferating histiocytes, highlighting the neoplastic features frequently observed in another non-Langerhans-cell histiocytosis known as Erdheim-Chester Disease (ECD). We consider this case to be a unique presentation of ECD harboring some RDD-like cells with emperipolesis, but not a case of RDD with a BRAF mutation concerning its clinical manifestation (involvement of the heart and bones) and neoplastic features.

Citations

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An Autopsied Case of Erdheim-Chester Disease with Severe Cardiovascular Involvement
Atsushi Matsunashi, Wang Zhipeng, Akihiko Sugimoto, Masakazu Fujimoto, Akihiko Yoshizawa, Ryo Sakamoto, Michihiro Uyama, Kohei Ikezoe, Kiminobu Tanizawa, Tomohiro Handa, Toyohiro Hirai
Internal Medicine.2025;[Epub] CrossRef
Infantile Rosai-Dorfman Disease With Isolated Brain Lesions Disseminated to the Parenchyma and Intraventricular Ependyma, Alteration of Leukocytes as a Promotion Factor in Immune Defense, and New Proposals: A Case Report and Literature Review
Nasser Kamalian, Shahmir Kamalian, Mohammad Vasei
Cureus.2024;[Epub] CrossRef
Emperipolesis in pleural fluid mesothelial cells . A phenomenon not associated with Rosai-Dorfman disease, report of a case
Diana Sofía Vargas-Lías, Mónica Lizette Serrano-Arévalo, Lara-Torres César, Corredor-Alonso Guillermo Ernesto, Hugo R. Dominguez-malagon
Ultrastructural Pathology.2024; 48(5): 438. CrossRef
BRAF V600E mutation and high expression of PD-L1 in Rosai-Dorfman disease: case report and review of the literature
Farnoush M. Moen, Mariam M. Youssef, Mihir Shukla, Mary Lynn Nierodzik, Marius E. Mayerhoefer, Christopher Park
Journal of Hematopathology.2024; 17(4): 183. CrossRef
Characterizing Rosai-Dorfman disease with [18F]FDG PET/CT: a retrospective analysis of a single-center study
Jianan Zhang, Ruixue Cui, Jian Li, Xinxin Cao, Yaping Luo
European Radiology.2023; 33(9): 6492. CrossRef
Atypical skeletal involvement in patients with Erdheim–Chester disease: CT imaging findings
Zaizhu Zhang, Wei Yu, Wenmin Guan, Qiang Lin, Ali Guermazi
Orphanet Journal of Rare Diseases.2022;[Epub] CrossRef
BRAF mutation in overlapping form of Erdheim-Chester and Rosai Dorfman diseases: a unique case restricted to the central nervous system
J. Dufour, B. Mathon, M. Touat, K. Hoang-Xuan, K. Mokhtari, A. Idbaih
Revue Neurologique.2021; 177(6): 708. CrossRef
Reticulohistiocytoses: a revision of the full spectrum
A. Bonometti, E. Berti
Journal of the European Academy of Dermatology and Venereology.2020; 34(8): 1684. CrossRef
Orbital histiocytosis with systemic involvement
Joaquín J.R. Civit, Davinia Godoy, Alicia Conde, Jorge Arencibia, Ramón Medel, Miguel A. Limeres, Iñigo S. Miguel, José D. Marín, Y. Aguilar, Francesc Tresserra, Francisco Medina
Saudi Journal of Ophthalmology.2020; 34(4): 319. CrossRef
Coccidioidomycosis with emperipolesis in fine needle aspiration
Alexandra Grosse, Claudia Grosse
Cytopathology.2019; 30(4): 451. CrossRef
Bilateral Renal Colic as an Initial Presentation of Erdheim-Chester Disease
Julien Sarkis, Fady Haddad, Sarah Nasr, Elie Hanna, Ahmad Mroueh, Elie Nemr
Case Reports in Urology.2019; 2019: 1. CrossRef
Erdheim–Chester disease: description of two illustrative cases involving the lung
Magda Zanelli, Maxwell Smith, Maria C Mengoli, Lucia Spaggiari, Loredana De Marco, Filippo Lococo, Francesco Puma, Stefano Ascani
Histopathology.2018; 73(1): 167. CrossRef

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