Article
Medicine, General & Internal
Yin Ping Wong, Roziasyazni Che Abdul Aziz, Azimatun Noor Aizuddin, Muhamad Fakhri Mohd Saleh, Roslina Mohd Arshad, Geok Chin Tan
Summary: Accumulating data suggests that EZH2 and IDH1 are involved in promoting tumourigenesis in gliomas. This study aimed to explore the immunoexpression of EZH2 in gliomas and its correlation with clinicopathological variables. The study found that high EZH2 expression was significantly associated with older age, higher tumour grade, negative IDH1 R132H expression, shorter 5-year progression-free survival and overall survival. In IDH1 R132H-negative gliomas, high EZH2 expression was associated with shorter 5-year progression-free survival and overall survival.
Article
Clinical Neurology
C. Mircea S. Tesileanu, Wies R. Vallentgoed, Marc Sanson, Walter Taal, Paul M. Clement, Wolfgang Wick, Alba Ariela Brandes, Jean Francais Baurain, Olivier L. Chinot, Helen Wheeler, Sanjeev Gill, Matthew Griffin, Leland Rogers, Roberta Ruda, Michael Weller, Catherine McBain, Jaap Reijneveld, Roelien H. Enting, Francesca Caparrotti, Thierry Lesimple, Susan Clenton, Anja Gijtenbeek, Elizabeth Lim, Filip de Vos, Paul J. Mulholland, Martin J. B. Taphoorn, Iris de Heer, Youri Hoogstrate, Maurice de Wit, Lorenzo Boggiani, Sanne Venneker, Jan Oosting, Judith V. M. G. Bovee, Sara Erridge, Michael A. Vogelbaum, Anna K. Nowak, Warren P. Mason, Johan M. Kros, Pieter Wesseling, Ken Aldape, Robert B. Jenkins, Hendrikus J. Dubbink, Brigitta Baumert, Vassilis Golfinopoulos, Thierry Gorlia, Martin van den Bent, Pim J. French
Summary: Somatic mutations in the isocitrate dehydrogenase genes IDH1 and IDH2 are common in various tumor types, with gliomas showing a particularly high frequency of the IDH1(R132H) mutation. Patients with IDH1(R132H) mutations tend to have lower DNA methylation levels and higher gene expression compared to other IDH1/2 mutations. The different prognosis between IDH1(R132H) mutated astrocytomas and non-R132H IDH1/2-mutated astrocytomas highlights the clinical relevance of distinct IDH mutations.
ACTA NEUROPATHOLOGICA
(2021)
Article
Chemistry, Analytical
Luis Pla, Felix Sancenon, M. Carmen Martinez-Bisbal, Ricardo Prat-Acin, Inmaculada Galeano-Senabre, Marina Botello-Marabotto, Sarai Palanca-Suela, Elena Aznar, Sara Santiago-Felipe, Ramon Martinez-Manez
Summary: The study introduces a nanodevice for detecting the IDH1-R132H mutant enzyme, capable of detecting the mutant enzyme in less than 1 hour using a fluorimeter. Validated in human glioma tissue samples by standardized methods, the biosensor shows high sensitivity, specificity, and accuracy in classifying the IDH1-R132H mutational status.
SENSORS AND ACTUATORS B-CHEMICAL
(2021)
Article
Oncology
Kaishi Satomi, Akihiko Yoshida, Yuko Matsushita, Hirokazu Sugino, Kenji Fujimoto, Mai Honda-Kitahara, Masamichi Takahashi, Makoto Ohno, Yasuji Miyakita, Yoshitaka Narita, Yasushi Yatabe, Junji Shibahara, Koichi Ichimura
Summary: This study established a quantitative analysis method for the IDH1 R132H mutation using dPCR and set a quantitation limit of 0.25%. In clinical settings, dPCR analysis can validate immunohistochemistry results, even when conventional DNA sequencing fails to detect the mutation, ensuring diagnostic quality.
BRAIN TUMOR PATHOLOGY
(2022)
Article
Anatomy & Morphology
Zuzana Sporikova, Rastislav Slavkovsky, Lucie Tuckova, Ondrej Kalita, Magdalena Megova Houdova, Jiri Ehrmann, Marian Hajduch, Lumir Hrabalek, Miroslav Vaverka
Summary: The study found that 25% of Czech diffuse astrocytic and oligodendroglial tumors (gliomas) patients below 55 years of age carry IDH1/IDH2 mutations. It is suggested to routinely combine IHC detection of the IDH1 R132H variant with MPS to improve the accuracy of detecting rare IDH1/2 variants in glioma patients below 55 years of age with negative IHC result of IDH R132H variant.
APPLIED IMMUNOHISTOCHEMISTRY & MOLECULAR MORPHOLOGY
(2022)
Article
Oncology
Tomohide Nishikawa, Reiko Watanabe, Yotaro Kitano, Akane Yamamichi, Kazuya Motomura, Fumiharu Ohka, Kosuke Aoki, Masaki Hirano, Akira Kato, Junya Yamaguchi, Sachi Maeda, Yuji Kibe, Ryuta Saito, Toshihiko Wakabayashi, Yukinari Kato, Shuta Sato, Tomoyoshi Ogino, Atsushi Natsume, Ichiro Ito
Summary: This study found that ATRX and p53 immunohistochemistry should be supplementary to morphological diagnosis; rare IDH mutations other than IDH1 R132H should be considered; and there is no complete alternative test to detect molecular features of glioblastoma under the 2021 WHO classification.
BRAIN TUMOR PATHOLOGY
(2022)
Article
Oncology
Daqian Zhan, Ding Ma, Shuang Wei, Bachchu Lal, Yi Fu, Charles Eberhart, John Laterra, Mingyao Ying, Yunqing Li, Alan Meeker, Hernando Lopez-Bertoni, Shuli Xia
Summary: The presence of heterozygous isocitrate dehydrogenase (IDH) R132H mutation (IDH1(R132H/WT)) in glioma cells contributes to improved therapeutic responses by inducing senescence. Additionally, IDH1(R132H/WT) in conjunction with ATRX knockout and p53/RB loss can transform nonneoplastic human astroglial cells to form tumors in mouse brains, with a subset of these cells undergoing senescence-like changes. These findings suggest that targeting senescent cells could aid in eliminating precancerous cells and reducing tumor growth following antitumor therapies.
MOLECULAR CANCER RESEARCH
(2021)
Article
Pathology
Rohit Mehra, Tanmay Shah, Chia-Jen Liu, Komal R. Plouffe, Xiaoming Wang, Rahul Mannan, Xuhong Cao, Arul M. Chinnaiyan, Scott A. Tomlins, Aaron M. Udager
Summary: This study reports a subtype of prostate cancer with psammomatous calcification (PCWPC) that is enriched for specific genetic alterations. These tumors are high-grade and commonly located in the anterior prostate, and are associated with recurrent hotspot IDH1 mutations. Recognition of this unique subtype could aid in identifying IDH1-mutant prostate cancer cases and facilitating further research and precision medicine approaches.
Article
Oncology
Nasrin Shayanfar, Ali Zare-Mirzaie, Mahsa Mohammadpour, Ensieh Jafari, Amirhosein Mehrtash, Nikoo Emtiazi, Fatemeh Tajik
Summary: This study investigates the association between the expression of IDH1 R132H and clinicopathological characteristics in laryngeal squamous cell carcinoma (LSCC). The results suggest that low cytoplasmic expression of IDH1 R132H is clinically significant in LSCC patients and is associated with more aggressive tumor behavior and disease progression.
JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY
(2023)
Article
Oncology
Santiago Cabezas-Camarero, Vanesa Garcia-Barberan, Rebeca Perez-Alfayate, Isabel Casado-Farinas, Hillary Sloane, Frederick S. Jones, Pedro Perez-Segura
Summary: Compared with other solid tumors, the detection of different biomarkers in the peripheral blood (PB) of patients with gliomas is still at a small scale research stage. A prospective study found that circulating tumor DNA (ctDNA) was detected in the PB of three out of six patients with isocitrate dehydrogenase 1 (IDH1)-mutant tumors, with a false-negative rate reaching 86%. Using Beads, Emulsion, Amplification and Magnetics (BEAMing) digital PCR technology, the IDH1 mutations in the plasma samples of IDH1-mutant patients can be accurately detected, with complete agreement with the mutant loci in the tumor. Larger prospective studies are needed to further validate these findings and explore the clearance of mutations in the blood of IDH1-positive patients during therapy.
Article
Chemistry, Multidisciplinary
Chunying Li, Yilin Wan, Yifan Zhang, Lian-Hua Fu, Nicholas Thomas Blum, Run Cui, Boda Wu, Rui Zheng, Jing Lin, Zhiming Li, Peng Huang
Summary: The passage discusses a starvation/chemodynamic therapeutic gel developed to combat residual IDH1 (R132H) tumor cells after surgery, showing higher therapeutic efficacy towards IDH1 (R132H) cells compared to IDH1 (WT) cells and achieving long-term survival through catalyzing oxidation processes to kill cells.
ADVANCED MATERIALS
(2022)
Article
Oncology
Elena Tirro, Michele Massimino, Giuseppe Broggi, Chiara Romano, Simone Minasi, Francesca Gianno, Manila Antonelli, Gianmarco Motta, Francesco Certo, Roberto Altieri, Livia Manzella, Rosario Caltabiano, Giuseppe Maria Vincenzo Barbagallo, Francesca Romana Buttarelli, Gaetano Magro, Felice Giangaspero, Paolo Vigneri
Summary: In this study, a custom NGS-based multi-gene panel was developed to accurately identify the tumor type and detect molecular abnormalities in gliomas. The panel targets specific genetic and chromosomal alterations, as well as methylation levels of gene promoters. NGS showed high concordance with conventional techniques and has the potential to replace multiple time-consuming tests. Furthermore, NGS can identify actionable genetic alterations, matching glioma patients with potential targeted therapies.
FRONTIERS IN ONCOLOGY
(2022)
Article
Pathology
Leiming Wang, Liwei Shao, Hainan Li, Kun Yao, Zejun Duan, Cheng Zhi, Shuangshuang Song, Ye Cheng, Fuyu Wang, Wei Wang, Yueshan Piao, Qiuping Gui, Dehong Lu, Xueling Qi, Lianghong Teng
Summary: This study retrospectively reviewed the clinical and pathological information of 30 adults with H3.3 G34-mutant gliomas. Compared to IDH/H3 wild-type gliomas, H3.3 G34-mutant gliomas were diagnosed at a younger age, had a worse prognosis, and exhibited different molecular features.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY
(2022)
Article
Clinical Neurology
Hiroshi Ikeda, Shigeru Yamaguchi, Yukitomo Ishi, Kento Wakabayashi, Ai Shimizu, Hiromi Kanno-Okada, Takeshi Endo, Mitsutoshi Ota, Michinari Okamoto, Hiroaki Motegi, Norimasa Iwasaki, Miki Fujimura
Summary: This article reports a case of a patient with Ollier disease who underwent surgery and was found to have multifocal tumors in the right and left frontal lobes. Pathological examinations revealed astrocytic tumor cells in the left frontal lobe tumor and IDH mutant and 1p/19q-codeleted oligodendroglioma in the right frontal lobe tumor. The study suggests that IDH1 R132H mutation is associated with the development of gliomas in the brain.
Review
Neurosciences
Chao Liu, Shuwen Kuang, Lei Wu, Quan Cheng, Xuan Gong, Jun Wu, Longbo Zhang
Summary: H3(K27M) mutated diffuse midline gliomas (DMGs) are highly aggressive and major cause of cancer-related deaths in pediatric brain tumors, with common radio-resistance. This study summarized current understandings of the molecular responses of H3(K27M) DMGs to radiotherapy and provided crucial insights into current advances in radiosensitivity enhancement.
CNS NEUROSCIENCE & THERAPEUTICS
(2023)
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
Endocrinology & Metabolism
Pankaj Kumar, Michael Traurig, Leslie J. Baier
INTERNATIONAL JOURNAL OF OBESITY
(2020)
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)