Article
Oncology
Emanuela Palmerini, Marco Gambarotti, Antoine Italiano, Michael J. Nathenson, Ravin Ratan, Palma Dileo, Salvatore Provenzano, Robin L. Jones, Steven G. DuBois, Javier Martin-Broto, Enrique de Alava, Giacomo G. Baldi, Giovanni Grignani, Virginia Ferraresi, Antonella Brunello, Luca Paoluzzi, Rossella Bertulli, Nadia Hindi, Michael Montemurro, Christian Rothermundt, Stefania Cocchi, Carmen Salguero-Aranda, Davide Donati, Juan D. Martin, Amr H. Abdelhamid Ahmed, Alessandro Mazzocca, Elisa Carretta, Marilena Cesari, Michela Pierini, Alberto Righi, Marta Sbaraglia, Maria A. Laginestra, Katia Scotlandi, Angelo P. Dei Tos, Toni Ibrahim, Silvia Stacchiotti, Bruno Vincenzi
Summary: This study aimed to define the clinical characteristics, treatment, and outcome of undifferentiated small round cell sarcomas (URCSs) patients. The results showed significant differences in prognosis between URCS subtypes, and a full molecular assessment is needed to confirm the diagnosis. Prospective studies are needed to determine the optimal treatment strategy for each URCS subtype.
EUROPEAN JOURNAL OF CANCER
(2023)
Article
Cell Biology
Lili Sun, Wei Zhao, Zehua Zhao, Yanmei Zhu
Summary: JAZF1 translocation is less common in extrauterine LG-ESS compared to uterine LG-ESS, limiting its diagnostic value. YWHAE rearrangement is a common genetic change in extrauterine HG-ESS.
Article
Pathology
Laura M. Warmke, Nolan Maloney, Cheuk Hong Leung, Heather Lin, Alexander J. Lazar, Wei-Lien Wang
Summary: This study investigated the expression of SATB2 in undifferentiated pleomorphic sarcoma (UPS) of bone and found that UPS of bone demonstrated a higher expression of SATB2 compared to its soft tissue counterpart. Additionally, the study found that diffuse SATB2 expression in UPS of bone was associated with better prognosis.
AMERICAN JOURNAL OF CLINICAL PATHOLOGY
(2022)
Review
Biotechnology & Applied Microbiology
Jiao Zhu, Bo Li, Juan Juan Hu, Weiping Liu, Dan Lu, Jun Liu
Summary: Undifferentiated small round cell sarcoma (USRCS) is a rare malignant tumor with limited reports in the postcricoid region of the hypopharynx. Pathological examination is essential for diagnosis, and surgery followed by radiotherapy could be a viable treatment option for USRCS.
ONCOTARGETS AND THERAPY
(2021)
Article
Oncology
Monika Sparber-Sauer, Nadege Corradini, Maria Carmen Affinita, Giuseppe Maria Milano, Gaelle Pierron, Matthieu Carton, Franck Tirode, Daniel Pissaloux, Rita Alaggio, Christian Vokuhl, Gianni Bisogno, Pablo Berlanga, Andrea Ferrari, Daniel Orbach
Summary: This study retrospectively analyzed CIC-fused and BCOR rearranged soft tissue sarcomas in young patients, and found that pediatric patients often present with large tumors and metastatic disease, with overall poor prognosis. New treatment options are needed.
Article
Pathology
Altan Kavuncuoglu, Ceren Damla Durmaz, Ozay Gokoz, Aysegul Uner, Kemal Kosemehmetoglu
Summary: This case study presents a challenging diagnosis of undifferentiated melanoma resembling undifferentiated round cell sarcoma, which required proper integration of clinical and molecular data for confirmation. By meeting the diagnostic criteria proposed by Agaimy et al, this case expands the clinicopathological spectrum of dedifferentiated/undifferentiated melanomas, emphasizing the importance of molecular signature and patient's history in any morphological setting.
INTERNATIONAL JOURNAL OF SURGICAL PATHOLOGY
(2022)
Article
Oncology
Yi-Che Chang Chien, Kristof Madarasz, Szilvia Lilla Csoma, Janos Andras Motyan, Hsuan-Ying Huang, Gabor Mehes, Attila Mokanszki
Summary: This paper presents a rare sarcoma case of BCOR-rearranged sarcoma (BRS) with a novel BCOR-CLGN gene fusion. The fusion was identified by next-generation sequencing and confirmed by Sanger sequencing. In silico protein analysis was performed to demonstrate the 3D structure of the chimera protein. Molecular ancillary tests and in silico analysis of the fusion protein are powerful tools to discover and understand the pathogenesis of such a rare variant.
Article
Oncology
Robert G. Maki, Patrick J. Grohar, Cristina R. Antonescu
Summary: The year 2021 marked the centenary of the first publication of a rare cancer called Ewing sarcoma. This cancer was distinct from other well-known tumors at that time. Advances in molecular biology have provided exponential understanding of this disease. Furthermore, the discovery of genomic relatives within Ewing sarcoma and related tumors emphasizes the need for specific therapeutic plans for each subtype of small round blue cell tumors.
GENES CHROMOSOMES & CANCER
(2022)
Article
Pathology
Meng Zhang, Xingfeng Yao, Xiaoxing Guan, Chao Jia, Ruqian Zhang, Huanmin Wang, Yongli Guo, Xin Ni, Yongbo Yu, Lejian He
Summary: Clear cell sarcoma of the kidney (CCSK) is often associated with TP53 deletion, which is related to adverse clinical outcomes. A study analyzed 39 CCSK patients and found that 87.18% of patients had BCOR internal tandem duplication (ITD), 2.56% had YWHAE rearrangement, and 2.56% had BCOR-CCNB3 gene fusion. Furthermore, 25.64% of patients had TP53 aberration, and patients with both BCOR ITD and TP53 deletion had the poorest prognosis.
Article
Medical Laboratory Technology
Michael E. Kallen, Jason L. Hornick
Summary: This review examines diagnostic categories of round cell sarcomas, emphasizing the exclusion of nonsarcomatous entities, diagnostic stratification of well-defined entities, and discussion of new categories with novel genetic alterations.
SEMINARS IN DIAGNOSTIC PATHOLOGY
(2022)
Review
Cell Biology
Francois Le Loarer, Jessica Baud, Rihab Azmani, Audrey Michot, Marie Karanian, Daniel Pissaloux
Summary: Round cell sarcomas pose a diagnostic challenge for pathologists and require immunohistochemical panels and molecular testing for accurate diagnosis. Ewing sarcoma is the most common type, but new families have been identified in recent years. Molecular studies have helped identify consistent biomarkers, aiding in diagnosis and classification.
Article
Pathology
Ana-Belen Larque, Santiago Lozano-Calderon, Gregory M. Cote, Yen-Lin Chen, Yin P. Hung, Vikram Deshpande, G. Petur Nielsen, Ivan Chebib
Summary: In this study, clinicopathological and immunohistochemical factors were evaluated in synovial sarcoma. The study identified several factors, including tumor location, AJCC stage, p16, p53, and PTEN expression, that were significantly associated with overall survival. Tumor location, tumor size, MYC expression, and PTEN expression were significantly associated with disease-free survival.
JOURNAL OF CLINICAL PATHOLOGY
(2022)
Review
Pathology
Pawel Gajdzis, Gaelle Pierron, Jerzy Klijanienko
Summary: Undifferentiated round-cell sarcomas (URCS) of soft tissue and bone are a clinically heterogeneous group of tumors with different genetic alterations, also known as Ewing-like sarcomas. Understanding the cytomorphologic and immunohistochemical differences among these tumors is essential for accurate diagnosis and appropriate ancillary studies.
Article
Oncology
Jennine H. Weller, Carly Westermann, Palak Patel, Ross M. Beckman, Christine A. Pratilas, Carol D. Morris, Daniel S. Rhee
Summary: Synovial sarcoma has a lower incidence of lymph node metastasis compared to CCS and epithelioid sarcoma. Lymph node sampling can improve overall survival in children and young adults with CCS.
PEDIATRIC BLOOD & CANCER
(2022)
Article
Oncology
Vikram Singh, Kirti Gupta, Aastha Saraswati, Nitin J. Peters, Amita Trehan
Summary: The immunohistochemistry results of cyclin D1 and BCOR can help differentiate CCSK from its morphologic mimics, providing clinical significance in distinguishing these renal tumors.
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
(2021)
Article
Cell Biology
Shih-Chiang Huang, Kwai-Fong Ng, Ta-Sen Yeh, Chi-Tung Cheng, Min-Chi Chen, Yi-Chun Chao, Huei-Chieh Chuang, Yu-Jen Liu, Tse-Ching Chen
Article
Oncology
Yu-De Chu, Wey-Ran Lin, Yang-Hsiang Lin, Wen-Hsin Kuo, Chin-Ju Tseng, Siew-Na Lim, Yen-Lin Huang, Shih-Chiang Huang, Ting-Jung Wu, Kwang-Huei Lin, Chau-Ting Yeh
Article
Cell Biology
Jui-Chu Wang, Wan-Shan Li, Yu-Chien Kao, Jen-Chieh Lee, Pei-Hang Lee, Shih-Chiang Huang, Jen-Wei Tsai, Chien-Chin Chen, Ching-Di Chang, Shih-Chen Yu, Hsuan-Ying Huang
Summary: The USP6 rearrangement plays a crucial role in self-limiting fibroblastic/myofibroblastic neoplasms, with specific genetic characteristics and bone-forming features.
Article
Pathology
Cristina R. Antonescu, Shih-Chiang Huang, Yun-Shao Sung, Lei Zhang, Burkhard M. Helmke, Martina Kirchner, Albrecht Stenzinger, Gunhild Mechtersheimer
Summary: The genetic hallmark of EH involves recurrent gene fusions of FOS and FOSB, but a new GATA6-FOXO1 fusion has been discovered in some cases, providing a new direction for classification and study for EH cases lacking the canonical fusions.
Article
Multidisciplinary Sciences
Shih-Chiang Huang, Kwai-Fong Ng, Ian Yi-Feng Chang, Chee-Jen Chang, Yi-Chun Chao, Shu-Chen Chang, Min-Chi Chen, Ta-Sen Yeh, Tse-Ching Chen
Summary: The alterations of SWI/SNF complex in gastric cancer are common and associated with specific genotypes. SWI/SNF attenuation is related to older age, EBV and MSI genotypes, and can impact the prognosis of gastric cancer patients.
Review
Oncology
Chang Shih-Chun, Huang Shih-Chiang, Tsai Chun-Yi, Wang Shan-Yu, Liu Keng-Hao, Hsu Jun-Te, Yeh Ta-Sen, Yeh Chun-Nan
Summary: This case report describes a rare occurrence of gastric metastasis from non-small cell lung cancer, which developed five months after the initial diagnosis despite a partial response to radiotherapy and chemotherapy for the primary lung cancer. The patient ultimately underwent total gastrectomy for treatment of gastrointestinal bleeding caused by the gastric metastasis.
Article
Pathology
Jen-Wei Tsai, Jen-Chieh Lee, Tsung-Han Hsieh, Shih-Chiang Huang, Pei-Hang Lee, Ting-Ting Liu, Yu-Chien Kao, Ching-Di Chang, Te-Fu Weng, Chien-Feng Li, Jung-Chia Lin, Cher-Wei Liang, Yu-Li Su, Ian Yi-Feng Chang, Yu-Ting Wang, Nien-Yi Chang, Shih-Chen Yu, Jui-Chu Wang, Hsuan-Ying Huang
Summary: NTRK-rearranged mesenchymal neoplasms mainly affect pediatric patients' soft tissues. In this study, we characterized the visceral mesenchymal tumors occurring in adult patients, highlighting the clinicopathological and genetic features. The findings underscored the unsatisfactory specificity of immunohistochemistry and emphasized the importance of molecular confirmation in the diagnosis of adult NTRK-rearranged mesenchymal neoplasms.
Article
Pathology
Pei-Hang Lee, Yu-Chien Kao, Tsung-Han Hsieh, Jia-Bin Liao, Chien-Feng Li, Jen-Chieh Lee, Yi-Ming Chang, Ching-Di Chang, Shih-Chiang Huang, Tzu-Ju Chen, Ting-Ting Liu, Shih-Chen Yu, Hsuan-Ying Huang
Summary: Studying the clinicopathologic and genetic spectrum of extracranial myxoid mesenchymal tumors with fusions between EWSR1/FUS and CREB transcription factors revealed similarities and differences among groups, highlighting the morphologic overlap with myxoid angiomatoid fibrous histiocytoma and myoepithelial tumor/carcinoma. The relationships between fusion types and histology, immunoprofile, and outcome remain unclear.
PATHOLOGY RESEARCH AND PRACTICE
(2022)
Article
Multidisciplinary Sciences
Shih-Chiang Huang, Chi-Chung Chen, Jui Lan, Tsan-Yu Hsieh, Huei-Chieh Chuang, Meng-Yao Chien, Tao-Sheng Ou, Kuang-Hua Chen, Ren-Chin Wu, Yu-Jen Liu, Chi-Tung Cheng, Yu-Jen Huang, Liang-Wei Tao, An-Fong Hwu, I-Chieh Lin, Shih-Hao Hung, Chao-Yuan Yeh, Tse-Ching Chen
Summary: The study presents an artificial-intelligence-assisted workflow for lymph node metastasis assessment, which significantly improves the sensitivity of micrometastasis and isolated tumor cells identification in gastric cancer, while reducing review time. Trained on high-resolution images, the algorithm demonstrates high accuracy in identifying metastatic LNs, showing robustness in cross-site evaluation.
NATURE COMMUNICATIONS
(2022)
Article
Pathology
Kuang-Hua Chen, Hsuan-Ying Huang, Tse-Ching Chen, Yu-Jen Liu, I-Chieh Lin, Kwai-Fong Ng, Huei-Chieh Chuang, Shih-Chiang Huang
Summary: In this study, orbital vascular lesions were reviewed and reclassified using the modified ISSVA classification. Clinicopathological parameters and gene mutations were evaluated. The study found differences among different types of vascular malformations in terms of patient age, lesion location, and residual/recurrent disease rate. Specifically, OVM1 was identified as a unique variant of venous malformation with specific GJA4 mutation and distinct histological features.
Editorial Material
Pediatrics
Jeng-Chang Chen, Shih-Chiang Huang
PEDIATRICS AND NEONATOLOGY
(2023)
Letter
Pediatrics
Tzu-ya Lo, Shih-Chiang Huang, Yu-Sheng Chang, Yi-Lun Wang, Tsung-Yen Chang, Tang-Her Jaing
PEDIATRICS AND NEONATOLOGY
(2023)
Article
Oncology
Shih-Chiang Huang, Ian Yi-Feng Chang, Chee-Jen Chang, Hsuan Liu, Kuang-Hua Chen, Ting-Ting Liu, Tsan-Yu Hsieh, Huei-Chieh Chuang, Chien-Cheng Chen, I-Chieh Lin, Kwai-Fong Ng, Hsuan-Ying Huang, Tse-Ching Chen
Summary: Based on the analysis of the National Health Insurance Research Database (NHIRD) in Taiwan, it was found that hepatic angiosarcoma (HAS) has a higher incidence rate in chronic kidney disease (CKD) and end-stage renal disease (ESRD) patients. Additionally, the presence of mutations associated with aristolochic acid exposure was observed in ESRD-associated HAS.
JOURNAL OF PATHOLOGY
(2023)
Article
Pathology
Shih-Chiang Huang, Jen-Chieh Lee, Yong-Chen Hsu, Jen-Wei Tsai, Yu-Chien Kao, Tsung-Han Hsieh, Yi-Ming Chang, Kung-Chao Chang, Pao-Shu Wu, Paul Chih-Hsueh Chen, Chien-Heng Chen, Ching-Di Chang, Pei-Hang Lee, Hui-Chun Tai, Ting -Ting Liu, Mei-Chin Wen, Wan-Shan Li, Shih-Chen Yu, Jui-Chu Wang, Hsuan-Ying Huang
Summary: Extraskeletal myxoid chondrosarcoma (EMC) is a rare sarcoma with myxoid/reticular histology and NR4A3 translocation. Different NR4A3-associated fusions were found in three challenging pan-Trk-expressing cases. Pan-Trk immunostaining and KIT sequencing confirmed the diagnosis in 58 EMC cases, with EWSR1::NR4A3, TAF15::NR4A3, and TCF12::NR4A3 fusions identified in the majority of cases. The size of the tumor, presence of metastasis, and TAF15::NR4A3 fusion were independent prognostic factors for shorter disease-specific survival. Pathogenic KIT mutation was rare in EMC.
Article
Computer Science, Information Systems
Sung-Nien Yu, Shih-Chiang Huang, Wei-Chen Wang, Yu Ping Chang, Kuang-Hua Chen, Tse-Ching Chen
Summary: This study proposes a method using deep neural networks to identify microsatellite instability based on analyzing histomorphologic features of gastric whole-slide images. A two-stage patch-wise framework is used to differentiate tumor regions from normal and predict MSI status. The model achieves high accuracy on the private dataset and outperforms previous literature in transfer learning.