Article
Endocrinology & Metabolism
Yong Wang, Danlei Chen, Yingxian Pang, Xiaowen Xu, Xiao Guan, Longfei Liu
Summary: This study investigated the expression of several genes in metastatic and non-metastatic pheochromocytoma and paraganglioma (PPGL), and found that the expression levels of apelin, CHGB, SDHB, and ERBB-2 may serve as predictive biomarkers for the diagnosis of metastatic PPGL.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Review
Endocrinology & Metabolism
Katharina Wang, Joakim Crona, Felix Beuschlein, Ashley B. Grossman, Karel Pacak, Svenja Noelting
Summary: Molecular targeted therapy plays an important role in the treatment of metastatic pheochromocytomas and paragangliomas. Some therapies are already in use with promising results, while others are still under evaluation in clinical trials. The development of molecular targeted therapies is of great significance for future tumor treatment.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Biology
Hye-Ryeon Choi, Ja-Seung Koo, Cho-Rok Lee, Jan-Dee Lee, Sang-Wook Kang, Young-Seok Jo, Woong-Youn Chung
Summary: SDHB-negative IHC is a reliable method for predicting SDHx mutations, while additional gene studies should be considered in cases of weakly positive staining.
Article
Endocrinology & Metabolism
Minghao Li, Yazhi He, Yingxian Pang, Jing Zhang, Yu Feng, Yao He, Xiaowen Xu, Yongbao Wei, Dewen Zhong, Wanglong Deng, Long Wang, Bin Yan, Yazhuo Jiang, Ning Xu, Hai Cai, Yanlin Wen, Jinzhuo Ning, Yujun Liu, Xin Gao, Zhongyan Shan, Longfei Liu, Xiaochun Teng, Susan Richter, Jingjing Jiang
Summary: This study investigates the prevalence of IDH1 hotspot variants and associated phenotypes in a Chinese population with PPGL. The results show a low prevalence of IDH1 hotspot variants in Chinese PPGL patients, especially in those with apparently sporadic paragangliomas without mutations in major PPGL driver genes and with a non-adrenergic phenotype.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Medicine, General & Internal
Junne Kamihara, Kayla V. Hamilton, Jessica A. Pollard, Catherine M. Clinton, Jill A. Madden, Jasmine Lin, Alma Imamovic, Catherine B. Wall, Ari J. Wassner, Brent R. Weil, Matthew M. Heeney, Sara O. Vargas, William G. Kaelin, Katherine A. Janeway, Rodolfo F. Perini, Naseem J. Zojwalla, Stephan D. Voss, Steven G. DuBois
Summary: Treatment with belzutifan in a patient with Pacak-Zhuang syndrome led to tumor regression, normalized hemoglobin levels, and symptom resolution, demonstrating the effectiveness of targeted therapy for rare tumor predisposition syndromes.
NEW ENGLAND JOURNAL OF MEDICINE
(2021)
Article
Endocrinology & Metabolism
C. Christofer Juhlin
Summary: Abdominal paragangliomas and pheochromocytomas are rare neuroendocrine tumors with malignant potential, known for their rarity, spectacular presentation due to excess catecholamine secretion, and association with genetic mutations and hereditary syndromes. Clinicians face challenges in accurately diagnosing and prognosticating these lesions due to their complexity and potential for metastasis.
ENDOCRINE PATHOLOGY
(2021)
Article
Endocrinology & Metabolism
Gregory A. Kline, Jessica Boyd, Brenda Polzin, Adrian Harvey, Janice L. Pasieka, Hossein S. M. Sadrzadeh, Alexander A. Leung
Summary: The study found a poor-to-moderate correlation between urine and seated plasma metanephrines in outpatients without PPGL. Approximately 20% of high-risk patients with high urine metanephrines in the absence of PPGL also had high seated plasma metanephrines.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Endocrinology & Metabolism
Jing Zhang, Minghao Li, Yingxian Pang, Cikui Wang, Jingjing Wu, Ziyun Cheng, Xiaomu Li, Zhiqiang Lu, Yujun Liu, Jianming Guo, Xiang Chen, Yao He, Xiao Guan, Xiaowen Xu, Yong Wang, Jiahao Liu, Wei Guo, Yingyong Hou, Longfei Liu, Jingjing Jiang, Xin Gao
Summary: More than half of patients with incidental PPGLs had mutations in common susceptibility genes. The search for susceptibility genes should take both the mode of discovery and tumor location into consideration.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Endocrinology & Metabolism
Minami Miyauchi, Takumi Akashi, Asuka Furukawa, Keisuke Uchida, Tomoki Tamura, Noboru Ando, Susumu Kirimura, Hiroshi Shintaku, Kurara Yamamoto, Takashi Ito, Keiko Miura, Kou Kayamori, Yosuke Ariizumi, Takahiro Asakage, Atsushi Kudo, Minoru Tanabe, Yasuhisa Fujii, Hironori Ishibashi, Kenichi Okubo, Masanori Murakami, Tetsuya Yamada, Akira Takemoto, Yuan Bae, Yoshinobu Eishi, Kenichi Ohashi
Summary: Pheochromocytomas and paragangliomas are tumors originating from the neuroendocrine system. PHOX2B is the most sensitive and specific diagnostic marker for these tumors, especially in the case of parasympathetic/head and neck paragangliomas.
ENDOCRINE PATHOLOGY
(2022)
Article
Endocrinology & Metabolism
Xiaosen Ma, Chao Ling, Meng Zhao, Fen Wang, Yunying Cui, Jin Wen, Zhigang Ji, Caili Zhang, Shi Chen, Anli Tong, Yuxiu Li
Summary: This study investigated the mutation profile and clinical features of pathogenic genes in PPGL. The results showed that PPGL tissues exhibited a high degree of genetic heterogeneity, with mutations mainly concentrated in the RTK, TK, and MAPK pathways. Furthermore, the study also found a correlation between the onset of PPGL and mutations in the hypoxia pathway and norepinephrine level.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Review
Endocrinology & Metabolism
Svenja Noelting, Nicole Bechmann, David Taieb, Felix Beuschlein, Martin Fassnacht, Matthias Kroiss, Graeme Eisenhofer, Ashley Grossman, Karel Pacak
Summary: Pheochromocytomas/paragangliomas have high heritability, with 70% of patients falling into 3 main molecular clusters with distinct phenotypes and clinical behaviors. Personalized management strategies are essential for accurate diagnosis and effective treatment in different clusters.
Article
Medicine, General & Internal
Lin Zhao, Ting Zhang, Xu Meng, Zenglei Zhang, Yi Zhou, Hua Fan, Yecheng Liu, Xianliang Zhou, Huadong Zhu
Summary: This study analyzed the clinical data of 163 patients with pheochromocytomas and paragangliomas (PPGLs) and found that approximately half of the patients had dysglycemia before surgery. Age, hypertension, and the 24hU-E concentration were identified as risk factors for preoperative dysglycemia. Surgery improved dysglycemia in the majority of patients, and the remission of dysglycemia after surgery was associated with a larger preoperative tumor diameter.
ANNALS OF MEDICINE
(2023)
Review
Endocrinology & Metabolism
Taymeyah Al-Toubah, Jonathan Strosberg, Julie Hallanger-Johnson, Ghassan El-Haddad
Summary: Targeted radionuclide therapy is playing an increasingly important role in the management of endocrine-related tumors. The field is exploring new strategies to increase efficacy and personalize the selection of patients. Novel agents and therapies are also being investigated.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Lei Zheng, Yalong Gu, Jiangcun Silang, Jinlong Wang, Feng Luo, Baopeng Zhang, Chuanhong Li, Feng Wang
Summary: This study successfully constructed nomograms for predicting the overall survival (OS) and cancer-specific survival (CSS) of patients with malignant PPGL. The nomograms were found to be accurate and reliable in predicting patient outcomes, providing valuable information for personalized clinical management.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Endocrinology & Metabolism
Lauren N. Krumeich, Andrew J. Cucchiara, Katherine L. Nathanson, Rachel R. Kelz, Lauren Fishbein, Douglas L. Fraker, Robert E. Roses, Debbie L. Cohen, Heather Wachtel
Summary: This study found close relationships between plasma catecholamines and their metabolites with body weight and glucose control in pheochromocytomas and paragangliomas. After surgery, decreasing normetanephrine levels were associated with improved glucose control despite an increase in body weight. Persistently elevated catecholamines and weight loss were observed in metastatic and/or recurrent disease.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Review
Oncology
Plabon Kumar Das, Joti Saha, Suja Pillai, Alfred K-Y Lam, Vinod Gopalan, Farhadul Islam
Summary: This study highlights the significant role of estrogens and their receptors, particularly ERβ, in the pathogenesis of colorectal carcinoma (CRC). Understanding the underlying mechanisms of estrogen and its receptors in CRC pathogenesis could offer new insights for therapeutic development.
Article
Medicine, General & Internal
Zaw Thet, Alfred K. Lam, Tony Pham, Shu-Kay Ng, Jason C. Steel, Sirena Sawhney, Carolina T. Arellano, Soe Yu Aung, Thin Han, Dwarakanathan Ranganathan, George John, Christina Pepito, Tamlyn Rautenberg, Tien K. Khoo
Summary: This study evaluated the clinical and economic burden of benign and malignant skin lesions in renal transplant recipients in Australia using Medicare data. The results showed that 40% of patients were diagnosed with benign skin lesions, 38% with nonmelanoma skin carcinoma (NMSC), and 2% with melanoma during a 2-year follow-up. The total direct costs to Medicare were $48,806 Australian Dollars, indicating a significant burden in the renal transplantation setting.
INTERNAL MEDICINE JOURNAL
(2023)
Review
Otorhinolaryngology
Sharmin Aktar, Hooman Baghaie, Farhadul Islam, Vinod Gopalan, Alfred King-Yin Lam
Summary: This review examines the current status of circulating tumor cells (CTCs) in patients with head and neck squamous cell carcinomas (HNSCC), highlighting their diagnostic and prognostic value. Various analysis approaches, such as single-CTC analysis and identifying phenotypic surface markers, have shown promise in predicting disease progression and treatment efficacy. However, limitations in CTC detection and characterization methods remain.
OTOLARYNGOLOGY-HEAD AND NECK SURGERY
(2023)
Review
Medicine, General & Internal
Louise Clarkson, Laura Hart, Alfred K. K. Lam, Tien K. K. Khoo
Summary: This review examined the effectiveness of deprescribing interventions within specialist outpatient clinics for patients aged 60 and older. Nineteen studies showed that implementing deprescribing interventions in certain clinic settings can significantly reduce medication load, but with limited study quality and the need for further research.
CURRENT MEDICAL RESEARCH AND OPINION
(2023)
Article
Biochemistry & Molecular Biology
Sharmin Aktar, Faysal Bin Hamid, Sujani Madhurika Kodagoda Gamage, Tracie Cheng, Nahal Parkneshan, Cu Tai Lu, Farhadul Islam, Vinod Gopalan, Alfred King-yin Lam
Summary: Information on genetic alterations of driver cancer genes in circulating tumor cells (CTCs) and their immune microenvironment can be used as a real-time monitoring platform for translational applications. This study investigated gene expression profiling in CTCs and peripheral blood mononuclear cells (PBMCs) of colorectal carcinoma (CRC) patients. The presence of higher numbers of CTCs was correlated with advanced cancer stages and adenocarcinoma subtypes. Patients with lower numbers of CTCs had higher expression of KRAS, which was negatively correlated with tumor perforation and distant metastasis. CTLA-4 was highly expressed in both CTCs and PBMCs and positively correlated with KRAS in CTCs. Dysregulation of KRAS in CTCs may alter the expression of CTLA-4, providing insights into therapeutic target selection.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Biochemistry & Molecular Biology
Ghazaleh Pourali, Nima Zafari, Hamid Fiuji, Jyotsna Batra, Elham Nazari, Majid Khazaei, Seyed Mahdi Hassanian, Mahrou Vahabi, MohammadAli Kiani, Majid Ghayour-Mobarhan, Godefridus J. Peters, Gordon A. Ferns, Alfred King-yin Lam, Elisa Giovannetti, Amir Avan
Summary: There is a complex interaction between pro-tumoural and anti-tumoural networks in the tumour microenvironment (TME). Understanding these interactions within the TME is crucial for the development of innovative cancer treatments. Extracellular vesicles (EVs) serve as carriers of various materials and play a vital role in the communication between tumour cells and non-tumour cells. This review summarizes recent findings regarding the involvement of EVs in the metabolic reprogramming of gastrointestinal cancers and highlights potential therapeutic approaches.
CYTOKINE & GROWTH FACTOR REVIEWS
(2023)
Correction
Biochemistry & Molecular Biology
Sharmin Aktar, Faysal Bin Hamid, Sujani Madhurika Kodagoda Gamage, Tracie Cheng, Nahal Pakneshan, Cu Tai Lu, Farhadul Islam, Vinod Gopalan, Alfred King-yin Lam
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Multidisciplinary Sciences
Fatemeh Khojasteh-Leylakoohi, Reza Mohit, Nima Khalili-Tanha, Alireza Asadnia, Hamid Naderi, Ghazaleh Pourali, Zahra Yousefli, Ghazaleh Khalili-Tanha, Majid Khazaei, Mina Maftooh, Mohammadreza Nassiri, Seyed Mahdi Hassanian, Majid Ghayour-Mobarhan, Gordon A. Ferns, Soodabeh Shahidsales, Alfred King-yin Lam, Elisa Giovannetti, Elham Nazari, Jyotsna Batra, Amir Avan
Summary: This study utilized bioinformatics and machine learning methods to identify and validate differentially expressed genes and microRNAs associated with pancreatic ductal adenocarcinoma (PDAC). The results demonstrated the prognostic and diagnostic value of these genes and microRNAs in PDAC.
SCIENTIFIC REPORTS
(2023)
Article
Genetics & Heredity
Sharmin Aktar, Farhadul Islam, Tracie Cheng, Sujani Madhurika Kodagoda Gamage, Indra Neil Choudhury, Md Sajedul Islam, Cu Tai Lu, Faysal Bin Hamid, Hirotaka Ishida, Ichiro Abe, Nan Xie, Vinod Gopalan, Alfred K. Lam
Summary: This study investigated the genomic variations of KRAS in circulating tumour cells (CTCs) and matched colorectal carcinoma (CRC) tissues. The results showed differences in KRAS mutations between CTCs and CRC tissues. Patients with KRAS mutations in CTCs were more likely to have poorly differentiated tumors and lymph node metastasis. These findings suggest the genetic basis of KRAS as a potential target for immunotherapy.
Article
Oncology
Maryam Alaei, Seyedeh Elnaz Nazari, Ghazaleh Pourali, AliReza Asadnia, Mehrdad Moetamani-Ahmadi, Hamid Fiuji, Hamid Tanzadehpanah, Fereshteh Asgharzadeh, Fatemeh Babaei, Fatemeh Khojasteh-Leylakoohi, Ibrahim Saeed Gataa, Mohammad Ali Kiani, Gordon A. Ferns, Alfred King-yin Lam, Seyed Mahdi Hassanian, Majid Khazaei, Elisa Giovannetti, Amir Avan
Summary: In this study, the potential of targeting the enzyme cytochrome P450 (CYP450) using lopinavir/ritonavir in colorectal cancer (CRC) was explored. Experimental methods were employed to assess the effects of lopinavir/ritonavir on CRC, and it was found that inhibiting CYP450 reduced cell proliferation, induced cell death, and suppressed cell migration. Lopinavir/ritonavir also inhibited tumor growth and fibrosis. These findings suggest that targeting CYP450 with lopinavir/ritonavir has therapeutic potential in CRC and further research in this area is needed.
Article
Oncology
Alireza Asadnia, Elham Nazari, Ladan Goshayeshi, Nima Zafari, Mehrdad Moetamani-Ahmadi, Lena Goshayeshi, Haneih Azari, Ghazaleh Pourali, Ghazaleh Khalili-Tanha, Mohammad Reza Abbaszadegan, Fatemeh Khojasteh-Leylakoohi, Mohammadjavad Bazyari, Mir Salar Kahaei, Elnaz Ghorbani, Majid Khazaei, Seyed Mahdi Hassanian, Ibrahim Saeed Gataa, Mohammad Ali Kiani, Godefridus J. Peters, Gordon A. Ferns, Jyotsna Batra, Alfred King-yin Lam, Elisa Giovannetti, Amir Avan
Summary: This study identified genetic variants and differentially expressed genes in colorectal cancer patients using genome-wide DNA and RNA sequencing. ASPHD1 and ZBTB12 genes were identified as potential prognostic markers, and two novel genetic variants were found to potentially regulate gene expression. These findings provide a proof of concept for the evaluation of emerging biomarkers in colorectal cancer.
Meeting Abstract
Transplantation
Ken Chau, Shu Kay Ng, Alfred Lam, Tien Khoo, Dwarakanathan Ranganathan
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2023)
Meeting Abstract
Transplantation
Louise Clarkson, Tien Khoo, Alfred Lam, Anthony Griffiths
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2023)
Meeting Abstract
Transplantation
Zaw Thet, Thin Han, Leo Francis, Nyi Aung, Ken Chau, Shu Kay Ng, Mar Myint, Jennifer Borg, Alfred Lam, Tien Khoo, Dwarakanathan Ranganathan
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2023)
Article
Cell Biology
Hirotaka Ishida, Atsuko Kasajima, Takuro Yamauchi, Ryujiro Akaishi, Shunsuke Ueki, Yusuke Taniyama, Fumiyoshi Fujishima, Tomoyuki Koike, Takashi Kamei, Alfred King-yin Lam, Hironobu Sasano
Summary: Esophageal basaloid squamous cell carcinoma can resemble small cell carcinoma biopsy specimens and cause difficulties in pathology diagnosis. Small cell carcinoma-like features are frequent in biopsies but do not impact patients' outcome. Immunohistochemically, synapto-physin and chromogranin A are consistently negative, while CD56 is expressed in some cases. p16 expression may also be detected in basaloid squamous cell carcinoma.
HISTOLOGY AND HISTOPATHOLOGY
(2023)