Article
Pathology
Anna Calio, Stefano Marletta, Matteo Brunelli, Serena Pedron, Sofia Canete Portillo, Diego Segala, Elena Bariani, Stefano Gobbo, George Netto, Guido Martignoni
Summary: TFE3/TFEB-rearranged renal cell carcinomas have a wide histological spectrum and require immunohistochemical markers, such as CA9, GATA3, AMACR, CK7, and parvalbumin, for accurate diagnosis.
Review
Genetics & Heredity
Jinglong Tang, Masaya Baba
Summary: The MiT/TFE family of transcription factors, including MITF, TFEB, TFE3, and TFEC, play important roles in the development of renal cell carcinoma (RCC). The germline variant of MITF p.E318K has been identified as a risk factor for RCC. Further research on the molecular function of the MiT/TFE family is needed for better diagnosis and treatment of these rare diseases.
Article
Cell Biology
Ziad Bakouny, Ananthan Sadagopan, Praful Ravi, Nebiyou Y. Metaferia, Jiao Li, Shatha AbuHammad, Stephen Tang, Thomas Denize, Emma R. Garner, Xin Gao, David A. Braun, Laure Hirsch, John A. Steinharter, Gabrielle Bouchard, Emily Walton, Destiny West, Chris Labaki, Shaan Dudani, Chun-Loo Gan, Vidyalakshmi Sethunath, Filipe L. F. Carvalho, Alma Imamovic, Cora Ricker, Natalie Vokes, Jackson Nyman, Jacob E. Berchuck, Jihye Park, Michelle S. Hirsch, Rizwan Haq, Gwo-Shu Mary Lee, Bradley A. McGregor, Steven L. Chang, Adam S. Feldman, Catherine J. Wu, David F. McDermott, Daniel Y. C. Heng, Sabina Signoretti, Eliezer M. Van Allen, Toni K. Choueiri, Srinivas R. Viswanathan
Summary: This study comprehensively defines the clinical and molecular features of translocation renal cell carcinoma (tRCC), a subtype of kidney cancer driven by MiT/TFE gene fusions. tRCCs mainly harbor MiT/TFE fusions and homozygous deletions at chromosome 9p21.3, and display a heightened NRF2-driven antioxidant response. Patients with tRCC treated with vascular endothelial growth factor receptor inhibitors (VEGFR-TKIs) have worse outcomes compared to those treated with immune checkpoint inhibitors (ICI). The study findings may inspire new therapeutic hypotheses for tRCC.
Article
Multidisciplinary Sciences
Junyi Lin, Zhuang Tang, Chengjunyu Zhang, Wen Dong, Yeqing Liu, Hao Huang, Hao Liu, Jian Huang, Tianxin Lin, Xu Chen
Summary: This study aimed to investigate the impact of TFE3-rearranged RCC by analyzing its clinical features and prognosis. The results showed that TFE3-rearranged RCC had a relatively high rate of recurrence and new metastasis, even at an early tumor stage. Compared to TFE3(-) ccRCC, TFE3(+) ccRCC tended to have larger tumor size, higher neutrophil/lymphocyte ratio, higher metastatic potential, and worse overall and progression-free survival. The combination of TFE3 and lymphovascular invasion (LVI) may serve as a new risk stratification system for RCC.
Article
Multidisciplinary Sciences
Yang Liu, Xiangyun Li, Yue Fan, Haimin Xu, Yijin Gu, Lei Dong, Luting Zhou, Xiaoqun Yang, Chaofu Wang
Summary: This study explored the expression features of different renal entities and found that weak TFE3 expression does not indicate TFE3 rearrangement, while strong TFE3 expression is more likely to indicate TFE3-rearranged RCC. Young age combined with morphological features (psammomatous calcification and pattern multiplicity) may indicate the diagnosis of rearranged RCC.
Article
Cell Biology
Thomas Denize, Simona Massa, Alexander Valent, Lucia Militti, Alessia Bertolotti, Marta Barisella, Nathalie Rioux-Leclercq, Gabriel G. Malouf, Filippo Spreafico, Arnauld Verschuur, Justine van der Beek, Lieve Tytgat, Marry M. Van den Heuvel-Eibrink, Gordan Vujanic, Paola Collini, Aurore Coulomb
Summary: Renal cell carcinomas (RCCs) in children and adolescents are rare but require accurate diagnosis and classification. Precise histological diagnosis can guide targeted therapy and may be associated with genetic predisposition syndromes.
Review
Pathology
Michel Kmeid, Mahmut Akgul
Summary: TFE3 rearranged renal cell carcinoma is a rare cancer with unique morphological features and immunoprofile. Pathologists should be familiar with the clinical background and histologic findings associated with these tumors and use appropriate ancillary studies to confirm the diagnosis. Recognizing these entities is crucial for future clinical trials and development of novel therapies.
INTERNATIONAL JOURNAL OF SURGICAL PATHOLOGY
(2023)
Article
Medicine, General & Internal
Pranjal Kalita, Biswajit Dey, Animesh Saurabh, Sheikh F. Chishti
Summary: Translocation-associated renal cell carcinoma (TRCC) is a group of malignant renal neoplasms that are often misdiagnosed due to the lack of diagnostic tools, as they mimic a range of tumors with varying malignancy. Xp11.2 translocation-associated renal cell carcinoma is a rare disease in young individuals, and its prognosis is not well-known. The presence of bulbous tumor cells with vacuolated cytoplasm and psammomatoid bodies is indicative but not specific for diagnosis, while immunohistochemistry (IHC) for transcription factor E3 (TFE3) positivity and fluorescence in situ hybridization (FISH) for Xp11.2 translocation serve as important confirmatory tests. In our case report, we emphasize the importance of a combined approach involving light microscopy, immunohistochemistry, and fluorescence in situ hybridization for diagnosis.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2023)
Article
Cell Biology
Huimin Sun, Xing Wei, Changchun Zeng
Summary: Xp11 translocation renal cell carcinoma (tRCC) is a newly identified subtype of RCC that urgently requires effective prevention and treatment strategies. Autophagy plays a crucial role in tRCC and could potentially serve as a therapeutic target.
MOLECULAR AND CELLULAR BIOCHEMISTRY
(2021)
Article
Oncology
Ning Liu, Yi Chen, Lei Yang, Qiancheng Shi, Yanwen Lu, Wenliang Ma, Xiaodong Han, Hongqian Guo, Dongmei Li, Weidong Gan
Summary: The study demonstrates that androgen and androgen receptor (AR) play a facilitating role in the progression of Xp11.2 tRCC and may serve as a novel therapeutic target for Xp11.2 tRCC.
CLINICAL AND TRANSLATIONAL MEDICINE
(2022)
Review
Pathology
Gladell P. Paner, Vaibhav Chumbalkar, Rodolfo Montironi, Holger Moch, Mahul B. Amin
Summary: This article proposes a pragmatic approach to grading renal cell carcinoma (RCC), categorizing different subtypes into seven groups based on their clinical applicability and histological characteristics. It aims to identify the gaps in understanding and application of grading in RCC subtypes and provide guidance to surgical pathologists in terms of clinically useful grading information.
ADVANCES IN ANATOMIC PATHOLOGY
(2022)
Article
Cell Biology
Ankur R. Sangoi, Khaleel Al-Obaidy, Liang Cheng, Chia-Sui Kao, Emily Chan, Sudha Sadasivan, Albert M. Levin, Isabel Alvarado-Cabrero, Lakshmi P. Kunju, Rohit Mehra, Rahul Mannan, Xioming Wang, Jasreman Dhillon, Maria Tretiakova, Steven C. Smith, Ondrej Hes, Sean R. Williamson
Summary: Psammomatous calcifications in clear cell renal cell carcinoma are rare and usually associated with MITF family translocation RCC. This study identified clear cell RCCs with psammomatous calcifications and found that these tumors exhibited typical features of clear cell RCC but showed negativity for specific markers, indicating they are not MITF family translocation RCC.
Article
Cell Biology
Qiancheng Shi, Ning Liu, Lei Yang, Yi Chen, Yanwen Lu, Hongqian Guo, Xiaodong Han, Dongmei Li, Weidong Gan
Summary: This study demonstrates that E2 amplifies TOP2 beta-mediated TFE3 breaks through ER alpha-dependent pathway in Xp11.2 tRCC, and E2 upregulates TFE3 by NRF1 to increase the risk of TFE3 breaks. E2 is identified as an important pathogenic factor for Xp11.2 tRCC pathogenesis.
CELL COMMUNICATION AND SIGNALING
(2021)
Article
Oncology
Xiang Dong, Yuxin Chen, Jun Pan, Wenliang Ma, Peng Zhou, Ming Chen, Hongqian Guo, Weidong Gan
Summary: This study found that TFE3 expression in RCC is associated with tumor progression and poor prognosis.
FRONTIERS IN ONCOLOGY
(2022)
Article
Oncology
Haiyang Yang, Xiang Dong, Xinghe Pan, Wenliang Ma, Jun Pan, Hongqian Guo, Weidong Gan
Summary: TFE3-rearranged renal cell carcinoma is a rare subtype of renal tumor that primarily affects young women and is characterized by early metastasis and a poor prognosis. This case study reports a 29-year-old woman with TFE3-rearranged RCC, who initially presented with painless gross hematuria, and achieved favorable treatment outcomes.
FRONTIERS IN ONCOLOGY
(2023)
Article
Pathology
Xiaobo Zhang, Chen Wang, Danhua Shen
Summary: This study investigated the Clinicopathological features and FH mutation in FH-dUL. FH-dUL is rare and the combination of predictive Clinicopathological evaluation, FH and 2SC IHC test, and molecular test were helpful for the screening of FH-dUL or even HLRCC.
PATHOLOGY RESEARCH AND PRACTICE
(2024)
Review
Pathology
Gaurav Dubey, Mithilesh Singh, Himmat Singh, Mohit Agarwal, Shailendra Singh Chandel, Anurag Mishra, Ravindra Pal Singh, Neelima Kukreti
Summary: SnoRNAs play a crucial role in autoimmune diseases, influencing gene expression, immune cell development, and immune regulation. They have the potential to be biomarkers or therapeutic targets for disease management. However, further research is needed to elucidate their precise molecular mechanisms.
PATHOLOGY RESEARCH AND PRACTICE
(2024)
Article
Pathology
P. Suhaj, D. Do, T. Olejar, R. Pichova, O. Lang, R. Matej
Summary: Pancreatic polypeptide cell hyperplasia (PPY-H) is a multiplication of neuroendocrine cells producing pancreatic polypeptide (PPY). The development and role of PPY-H still need to be further elucidated. This study analyzed 12 cases of PPY-H accompanying pancreatic neuroendocrine neoplasias (NEN) and found that gastrointestinal symptoms may be more related to PPY-H rather than NEN hormonal production. Strong SSTR2 expression in PPY-H suggests the potential utility of radiotracers in clinical diagnostics, but further studies are needed.
PATHOLOGY RESEARCH AND PRACTICE
(2024)
Article
Pathology
Ruyun Zhang, Xiaofei Liao, Bin Zhang, Xiaohong Huang, Guanjie Qin, Xiangyun Kong, Yuan Xie, Yunyan Mo, Jinxuan Dai, Chunqiao Gan, Zan Luo, Jingyan Lu, Wei Jiang
Summary: This study found that patients with high COV+TIL score had worse prognosis in nasopharyngeal carcinoma.
PATHOLOGY RESEARCH AND PRACTICE
(2024)
Review
Pathology
Waleed Hassan Almalki
Summary: Understanding the molecular pathways behind cardiovascular illnesses is crucial. Recent studies have revealed the role of Xist RNA in cardiovascular diseases, including epigenetic changes, gene expression, cellular identity, and sex chromosomal inactivation. Dysregulation of Xist RNA expression is associated with conditions such as atherosclerosis, hypertrophy, and cardiac fibrosis.
PATHOLOGY RESEARCH AND PRACTICE
(2024)
Article
Pathology
Yanxin Dong, Boshi Fan, Mingyang Li, Jiale Zhang, Shun Xie, Shouyin Dia, Qingge Jia, Taiqian Gong
Summary: Tescalcin (TESC) is upregulated in esophageal squamous carcinoma (ESCC) and is associated with poor prognosis, tumor infiltration, staging, and lymph node metastasis. TESC promotes proliferation, invasion, migration, and epithelial-mesenchymal transition (EMT) progression in ESCC, as well as activates the AKT pathway. TESC may serve as a prognostic factor and provide a new therapeutic strategy for ESCC.
PATHOLOGY RESEARCH AND PRACTICE
(2024)
Article
Pathology
Ozge Sukruoglu Erdogan, Demet Akdeniz Odemis, Zubeyde Yalniz Kayim, Orkun Gurbuz, Seref Bugra Tuncer, Seda Kilic, Betul Celik, Samuray Tuncer, Sema Buyukkapu Bay, Rejin Kebudi, Hulya Yazici
Summary: This study found that methylation of the RB1 gene promoter does not influence the hereditary transmission of familial retinoblastoma.
PATHOLOGY RESEARCH AND PRACTICE
(2024)
Review
Pathology
Syam Mohan, Mohammed Ageeli Hakami, Hamad Ghaleb Dailah, Asaad Khalid, Asim Najmi, Khalid Zoghebi, Maryam A. Halawi, Thaifallah Munahi Alotaibi
Summary: Cancer is a complex disease caused by multiple factors, and miR-155 plays a significant role as a regulator of the NF-kappa B signaling pathway, contributing to cancer development and progression.
PATHOLOGY RESEARCH AND PRACTICE
(2024)