Article
Pathology
Sakun Santisukwongchote, Chinnachote Teerapakpinyo, Piyamai Chankate, Piti Techavichit, Atthaporn Boongird, Sith Sathornsumetee, Samasuk Thammachantha, Pornsuk Cheunsuchon, Jantima Tanboon, Paul Scott Thorner, Shanop Shuangshoti
Summary: This study successfully achieved integrated diagnosis of diffuse gliomas in adult Thai patients using a simplified approach combining clinical, morphological, immunohistochemical, and fewer molecular tests, saving 50% of testing costs. The demographic data and tumor subtypes were similar to series from other regions of the world.
PATHOLOGY RESEARCH AND PRACTICE
(2021)
Article
Neurosciences
Derek Wong, Tae Hoon Lee, Amy Lum, Valerie Lan Tao, Stephen Yip
Summary: In this study, the transcriptomic and proteomic profiles of low-grade gliomas (LGG) were investigated using RNA-seq data and tandem mass-spectrometry analysis. The results showed that gene expression in LGG subtypes was mainly influenced by IDH mutations and 1p19q co-deletion. Proteomic analysis identified subtype-specific proteins that could be used to classify the LGG subtypes.
ACTA NEUROPATHOLOGICA COMMUNICATIONS
(2022)
Review
Oncology
Jasmin Jo, David Schiff
Summary: Treatment recommendations for grade 3 gliomas depend on their histopathologic and molecular phenotype. The current treatments involve surgery, radiation therapy, and chemotherapy. The addition of temozolomide after radiation therapy improves outcomes for non-codeleted grade 3 IDH mutant astrocytoma. For codeleted oligodendroglioma, the recommended treatment includes procarbazine, CCNU, and vincristine regimen. Novel agents targeting IDH mutation and its metabolic effects are being investigated to further improve patient outcomes.
CURRENT TREATMENT OPTIONS IN ONCOLOGY
(2022)
Article
Oncology
Kurt A. Jaeckle, Karla Ballman, Martin van den Bent, Caterina Giannini, Evanthia Galanis, Paul D. Brown, Robert B. Jenkins, J. Gregory Cairncross, Wolfgang Wick, Michael Weller, Kenneth D. Aldape, Jesse G. Dixon, S. Keith Anderson, Jane H. Cerhan, Jeffrey S. Wefel, Martin Klein, Stuart A. Grossman, David Schiff, Jeffrey J. Raizer, Frederick Dhermain, Donald G. Nordstrom, Patrick J. Flynn, Michael A. Vogelbaum
Summary: The study demonstrated that patients treated with temozolomide alone had significantly shorter progression-free survival (PFS) compared to those receiving radiotherapy. Patients not receiving radiotherapy also had shorter PFS, but there was no significant difference in overall survival. There were no significant differences between groups in terms of adverse events and neurocognitive decline.
Article
Pathology
Dario de Biase, Giorgia Acquaviva, Michela Visani, Gianluca Marucci, Antonio De Leo, Thais Maloberti, Viviana Sanza, Enrico Di Oto, Enrico Franceschi, Antonella Mura, Moira Ragazzi, Silvia Serra, Elisabetta Froio, Alessandra Bisagni, Alba A. Brandes, Annalisa Pession, Giovanni Tallini
Summary: The study developed a next-generation sequencing panel to simultaneously define 1p/19g codeletion and IDH1/IDH2 mutation status, providing a reliable and cost-effective alternative for molecular diagnostics in gliomas.
JOURNAL OF MOLECULAR DIAGNOSTICS
(2021)
Review
Medicine, Research & Experimental
Takashi Komori
Summary: The 5th edition of WHO Classification of Tumors of the Central Nervous System incorporated new molecular markers for IDH-mutant and -wild-type astrocytoma, aiming to improve risk stratification. However, challenges and debates persist in the grading of gliomas, particularly regarding the utilization of histological and proliferative markers.
LABORATORY INVESTIGATION
(2022)
Article
Oncology
Jad Zreik, Panagiotis Kerezoudis, Mohammed Ali Alvi, Yagiz U. Yolcu, Sani H. Kizilbash
Summary: Despite the inclusion of 1p/19q codeletion as a required diagnostic component for oligodendrogliomas in the 2016 WHO classification, study findings revealed persistent regional disparities in reported testing and identified new disparities in race/ethnicity that may impact patient management. Patients who underwent reported testing were more likely to receive adjuvant treatment, highlighting the importance of comprehensive testing for better treatment outcomes.
FRONTIERS IN ONCOLOGY
(2021)
Article
Clinical Neurology
Ahmet Kursat Karaman, Bora Korkmazer, Nil Urganci, Guelcin Bas, Serdar Arslan, Nil Comunoglu, Mehmet Murat Hanci, Osman Kizilkilic
Summary: This case report describes a rare case of oligodendroglioma with spinal drop metastases, which is the first molecularly-defined spinal metastatic oligodendroglioma. Oligodendroglioma patients with spinal cord-related symptoms should be aware of the possibility of drop metastases. Currently, there is no standard approach for the diagnosis and treatment of spinal metastases of this type of glial tumor.
FRONTIERS IN NEUROLOGY
(2022)
Article
Oncology
Mythili Merchant, Margarita Raygada, Ying Pang, Martha Quezado, Mark Raffeld, Liqiang Xi, Jung Kim, Manoj Tyagi, Zied Abdullaev, Olga Kim, Zach Sergi, Tina Pillai, Byram Ozer, Kareem Zaghloul, John D. Heiss, Terri S. Armstrong, Mark R. Gilbert, Kenneth Aldape, Jing Wu
Summary: Most tumors, including brain tumors, occur sporadically. However, there is a small subset of central nervous system tumors that are associated with Lynch Syndrome. This report presents a rare case of an oligodendroglioma with a PMS2 mutation associated with Lynch Syndrome. The limited literature on germline PMS2 mutations and oligodendrogliomas highlights the importance of genetic testing in neuro-oncology.
FRONTIERS IN ONCOLOGY
(2022)
Article
Clinical Neurology
Qinghui Zhu, Shaoping Shen, Chuanwei Yang, Mingxiao Li, Xiaokang Zhang, Haoyi Li, Xuzhe Zhao, Ming Li, Yong Cui, Xiaohui Ren, Song Lin
Summary: A prognostic model for oligodendroglioma patients was established using CGGA data, and the predictive accuracy of the model was validated in a separate cohort, demonstrating its potential in guiding personalized treatment.
FRONTIERS IN NEUROLOGY
(2022)
Article
Oncology
Robyn A. Umans, Joelle Martin, Megan E. Harrigan, Dipan C. Patel, Lata Chaunsali, Aarash Roshandel, Kavya Iyer, Michael D. Powell, Ken Oestreich, Harald Sontheimer
Summary: Glioblastoma multiforme (GBM) is a deadly brain tumor with limited treatment options. Recent research suggests that tumor protein 53 (TP53) is a molecular regulator of System xc- (SXC) in GBM, with its expression negatively correlated with xCT expression. This finding indicates that p53 may serve as a potential therapeutic target for GBM by regulating glutamate biology.
Article
Immunology
Guanzhang Li, Ruoyu Huang, Wenhua Fan, Di Wang, Fan Wu, Fan Zeng, Mingchen Yu, You Zhai, Yuanhao Chang, Changqing Pan, Tao Jiang, Wei Yan, Hongjun Wang, Wei Zhang
Summary: The study revealed that 1p/19q chromosome deletion in gliomas is associated with activation of immune and inflammatory responses. The decreased expression level of CCAAT enhancer-binding protein alpha in samples with 1p/19q codeletion led to the downregulation of immune checkpoints Galectin-9 and TIM-3. The loss of chromosome 19q was identified as the main reason for promoting the antitumor immune response in gliomas.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Radiology, Nuclear Medicine & Medical Imaging
Laura Mancini, Stefano Casagranda, Guillaume Gautier, Philippe Peter, Bruno Lopez, Lewis Thorne, Andrew McEvoy, Anna Miserocchi, George Samandouras, Neil Kitchen, Sebastian Brandner, Enrico De Vita, Francisco Torrealdea, Marilena Rega, Benjamin Schmitt, Patrick Liebig, Eser Sanverdi, Xavier Golay, Sotirios Bisdas
Summary: This study investigated the clinical value of different CEST metrics for glioma classification and found that CEST-derived biomarkers for amides, amines, and their ratio are useful for histomolecular staging in gliomas. The study also revealed that AB/FS CEST mismatch can identify glioma subgroups that may have prognostic and clinical relevance.
EUROPEAN JOURNAL OF NUCLEAR MEDICINE AND MOLECULAR IMAGING
(2022)
Article
Pathology
Serena Ammendola, Nicolo Caldonazzi, Michele Simbolo, Maria Liliana Piredda, Matteo Brunelli, Pietro Luigi Poliani, Giampietro Pinna, Francesco Sala, Claudio Ghimenton, Aldo Scarpa, Valeria Barresi
Summary: H3K27me3 immunostaining can assist in the diagnosis of gliomas and provide relevant prognostic information, reducing the need for additional testing and improving patient outcomes.
Article
Oncology
Ziwen Fan, Zhiyan Sun, Shengyu Fang, Yiming Li, Xing Liu, Yucha Liang, Yukun Liu, Chunyao Zhou, Qiang Zhu, Hong Zhang, Tianshi Li, Shaowu Li, Tao Jiang, Yinyan Wang, Lei Wang
Summary: Radiomics analysis combined with machine learning can predict the 1p/19q gene status of patients with gliomas, aiding in the development of personalized neurosurgery plans and glioma management strategies preoperatively.
FRONTIERS IN ONCOLOGY
(2021)
Article
Ophthalmology
Mansi Bhardwaj, Seema Sen, Kunzang Chosdol, Sameer Bakhshi, Neelam Pushker, Anjana Sharma, Seema Kashyap, Mandeep Bajaj, Vijay Kumar Singh
BRITISH JOURNAL OF OPHTHALMOLOGY
(2020)
Article
Oncology
Chitrangda Srivastava, Khushboo Irshad, Yakhlesh Gupta, Chitra Sarkar, Ashish Suri, Parthaprasad Chattopadhyay, Subrata Sinha, Kunzang Chosdol
Article
Pathology
Kalpana Kumari, Mehar C. Sharma, Aanchal Kakkar, Prit B. Malgulwar, Pankaj Pathak, Vaishali Suri, Chitra Sarkar, Sarat P. Chandra, Mohammed Faruq
ANNALS OF DIAGNOSTIC PATHOLOGY
(2020)
Article
Endocrinology & Metabolism
Paolo Piaggi, Cigdem Koroglu, Anup K. Nair, Jeff Sutherland, Yunhua L. Muller, Pankaj Kumar, Wen-Chi Hsueh, Sayuko Kobes, Alan R. Shuldiner, Hye In Kim, Nehal Gosalia, Cristopher V. Van Hout, Marcus Jones, William C. Knowler, Jonathan Krakoff, Robert L. Hanson, Clifton Bogardus, Leslie J. Baier
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2020)
Article
Biotechnology & Applied Microbiology
Gaurav Baidya, Rameshvar Tiwary, Madeeha Mudassir, Neha Singh, Suman Saha, Kunzang Chosdol, Subrata Sinha, Parthaprasad Chattopadhyay
Article
Ophthalmology
Shahzan Anjum, Seema Sen, Neelam Pushker, Mandeep Singh Bajaj, Seema Kashyap, Sameer Bakhshi, Kunzang Chosdol, Rachna Meel, Mehar Chand Sharma
Summary: This study demonstrates that overexpression of Notch1 receptor plays a critical role in the biology and aggressive behavior of lacrimal gland ACC. In addition, bone erosion, solid histologic pattern, advanced T stage, perineural invasion, and intracranial extension are other high-risk clinicopathological predictors of lacrimal gland ACC.
ACTA OPHTHALMOLOGICA
(2021)
Article
Biology
Pankaj Pathak, Yotam Blech-Hermoni, Kalpana Subedi, Jessica Mpamugo, Charissa Obeng-Nyarko, Rachel Ohman, Ilda Molloy, Malcolm Kates, Jessica Hale, Stacey Stauffer, Shyam K. Sharan, Ami Mankodi
Summary: This research demonstrates that the LDB3 protein regulates mechanical stress signaling through interactions with filamin C, HSPA8, and PKC alpha. Mutations in LDB3 lead to early aggregation of filamin C and its chaperones at the muscle Z-disc, ultimately causing protein aggregation myopathy.
COMMUNICATIONS BIOLOGY
(2021)
Article
Oncology
Khushboo Irshad, Nargis Malik, Manvi Arora, Yakhlesh Gupta, Subrata Sinha, Kunzang Chosdol
Summary: A recent study identified GPC3 as a potential binding partner of FAT1 in HCC cells, providing an opportunity to study potential triggers of FAT1 signaling in cancers. Inhibitors of GPC3 currently in clinical trials offer an attractive option to curb GPC3-FAT1 signaling in tumors that overexpress these proteins.
TRANSLATIONAL ONCOLOGY
(2021)
Article
Oncology
Md Tipu Khan, Bharat Prajapati, Simran Lakhina, Mridula Sharma, Sachin Prajapati, Kunzang Chosdol, Subrata Sinha
Summary: Gender-based differences in incidence and outcomes of glioma, especially glioblastoma, are well documented. Molecular analysis using TCGA and CGGA databases revealed gender-specific molecular indicators, with differential expression of genes affecting survival and epigenetic differences. Key signaling pathways such as Wnt signaling and immune processes showed gender-based variation, emphasizing the importance of considering gender in molecular studies of glioma.
FRONTIERS IN ONCOLOGY
(2021)
Article
Pathology
Shahzan Anjum, Seema Sen, Kunzang Chosdol, Sameer Bakhshi, Seema Kashyap, Neelam Pushker, Mandeep Singh Bajaj, Rachna Meel, Mehar Chand Sharma
Summary: This study revealed that the expression of HIF-1 alpha and VEGF in lacrimal gland Adenoid cystic carcinoma is associated with clinicopathological features and survival rates. VEGF may serve as a potential predictor for poor clinical outcomes in this type of carcinoma.
ANNALS OF DIAGNOSTIC PATHOLOGY
(2022)
Article
Immunology
Khushboo Irshad, Chitrangda Srivastava, Nargis Malik, Manvi Arora, Yakhlesh Gupta, Sanjeev Goswami, Chitra Sarkar, Vaishali Suri, Swati Mahajan, Deepak Kumar Gupta, Ashish Suri, Parthaprasad Chattopadhyay, Subrata Sinha, Kunzang Chosdol
Summary: FAT1 promotes tumor immune suppression by upregulating the expression and secretion of TGF-beta1/2 in tumor cells, leading to the formation of an immunosuppressive microenvironment. FAT1 expression is also positively correlated with the expression of markers associated with MDSCs.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Anatomy & Morphology
Kalpana Kumari, Iman Dandapath, Jyotsna Singh, Hitesh I. S. Rai, Kavneet Kaur, Prerana Jha, Nargis Malik, Kunzang Chosdol, Supriya Mallick, Ajay Garg, Ashish Suri, Mehar C. Sharma, Chitra Sarkar, Vaishali Suri
Summary: IDH wild-type (wt) grade 2/3 astrocytomas are a heterogenous group of tumors with disparate clinical and molecular profiles. The use of molecular markers can help reclassify these tumors and predict patient survival.
APPLIED IMMUNOHISTOCHEMISTRY & MOLECULAR MORPHOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Shirin Farheen, Swalih P. Ahmed, Mubeena P. M. Mariyath, Tasneem Kausar, Md. Fakhrul Hoda, Sayeedul H. Arif, Shahid M. Nayeem, Asif Ali, Kunzang Chosdol, Mehdi H. Shahi
Summary: This study explored the potential interaction and regulation of Sonic hedgehog (Shh)-Gli1 cell signaling with Pax6 and IDH2 in glioma. It was found that Gli1 had differential dynamic interactions with IDH2 and Pax6, and Gli1 knockdown resulted in downregulation of Pax6 and upregulation of IDH2 expression. Additionally, the knockdown of Pax6 gene in glioma cells downregulated the expression of Gli1 and IDH2 and promoted cell proliferation. The study also showed that the combination of Gli1 inhibitor and an anti-cancer drug had a higher efficacy in treating glioma cells.
JOURNAL OF BIOCHEMICAL AND MOLECULAR TOXICOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Nargis Malik, Archismita Kundu, Yakhlesh Gupta, Khushboo Irshad, Manvi Arora, Sanjeev Goswami, Swati Mahajan, Chitra Sarkar, Vaishali Suri, Ashish Suri, Parthaprasad Chattopadhyay, Subrata Sinha, Kunzang Chosdol
Summary: This study reveals that the atypical cadherin FAT1 plays a role in promoting tumor development in glioblastoma by regulating the expression of miR-221-3p and miR-222-3p. FAT1 up-regulates NF-κB RelA, which further enhances the expression of miR-221-3p and miR-222-3p. These miRNAs suppress the tumor suppressor gene PDCD10, leading to increased clonogenicity and invasive potential of glioma cells. Patients with high levels of FAT1 and miR-221-3p expression have a shorter overall survival.
MOLECULAR CARCINOGENESIS
(2023)
Article
Clinical Neurology
Pankaj Pathak, Mehar Chand Sharma, Pankaj Jha, Chitra Sarkar, Mohammed Faruq, Prerana Jha, Vaishali Suri, Rohit Bhatia, Sumit Singh, Sheffali Gulati, Mohammad Husain
Summary: LGMDR1, previously known as LGMD2A, is a genetic disorder characterized by inactivating mutations in the CAPN3 gene. A systematic study was conducted to characterize the genetic framework of LGMDR1 in the Indian population, with preliminary calpain-3 immunoblot screening proving effective for genetic testing. The identification of key exons in CAPN3 could facilitate targeted sequencing panels for genetic diagnosis, carrier testing, counseling, and clinical trials in LGMDR1 patients in India.
JOURNAL OF NEUROMUSCULAR DISEASES
(2021)