Article
Multidisciplinary Sciences
Jungmin Choi, Aranzazu Manzano, Weilai Dong, Stefania Bellone, Elena Bonazzoli, Luca Zammataro, Xiaotong Yao, Aditya Deshpande, Samir Zaidi, Adele Guglielmi, Barbara Gnutti, Nupur Nagarkatti, Joan R. Tymon-Rosario, Justin Harold, Dennis Mauricio, Burak Zeybek, Gulden Menderes, Gary Altwerger, Kyungjo Jeong, Siming Zhao, Natalia Buza, Pei Hui, Antonella Ravaggi, Eliana Bignotti, Chiara Romani, Paola Todeschini, Laura Zanotti, Franco Odicino, Sergio Pecorelli, Laura Ardighieri, Kaya Bilguvar, Charles M. Quick, Dan-Arin Silasi, Gloria S. Huang, Vaagn Andikyan, Mitchell Clark, Elena Ratner, Masoud Azodi, Marcin Imielinski, Peter E. Schwartz, Ludmil B. Alexandrov, Richard P. Lifton, Joseph Schlessinger, Alessandro D. Santin
Summary: The study analyzed the genetics of uterine leiomyosarcomas and identified recurrent somatic mutations, copy number variations, and gene fusions. Some uLMS may benefit from existing PARP-, PIK3CA-, and C-MYC/BET-targeted drugs.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Oncology
Jianxiong Li, Huaguo Liang, Wentao Xiao, Peng Wei, Hongmei Chen, Zexin Chen, Ruihui Yang, Huan Jiang, Yongli Zhang
Summary: Through whole-exome sequencing, it was found that CCDC170 gene is closely associated with the survival and prognosis of ovarian cancer. High expression of CCDC170 can significantly prolong the overall survival of ovarian cancer patients, and its expression in ovarian cancer cells is significantly lower than that in normal cells.
Article
Endocrinology & Metabolism
Lingyun Zhang, Zhixiang Ren, Zhengzheng Su, Yang Liu, Tian Yang, Minyuan Cao, Yong Jiang, Ying Tang, Haining Chen, Weihan Zhang, Rixiang Gong, Tao Wei, Yong Peng, Bo Liu, Wei Zhang, Li Yang, Yiguo Hu, Zhihui Li, Jingqiang Zhu, Heng Xu, Yang Shu, Han Luo
Summary: A study conducted in West China Hospital revealed shared and ethnicity-specific genomic profiles of anaplastic thyroid cancer (ATC) in Chinese patients, suggesting that NOTCH2NL may act as a novel candidate driver gene for ATC tumorigenesis.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Biochemistry & Molecular Biology
Cristina Tous, Carmen Munoz-Redondo, Nereida Bravo-Gil, Angela Gavilan, Raquel Maria Fernandez, Juan Antinolo, Elena Navarro-Gonzalez, Guillermo Antinolo, Salud Borrego
Summary: Thyroid carcinoma (TC) can be classified into medullary (MTC) and non-medullary (NMTC). This study aimed to identify susceptibility genes for familial NMTC and non-RET MTC using whole exome sequencing. Rare candidate segregating variants were found in 12 families, with enriched biological processes related to cell proliferation, differentiation, survival, and adhesion. These findings provide insights into molecular mechanisms underlying familial forms of MTC and NMTC, which may contribute to early detection, tailored therapies, and patient management.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Medicine, Research & Experimental
Lee-Moay Lim, Wen-Yu Chung, Daw-Yang Hwang, Chih-Chuan Yu, Hung-Lung Ke, Peir-In Liang, Ting-Wei Lin, Siao Muk Cheng, A-Mei Huang, Hung-Tien Kuo
Summary: This study compares the genetic alterations in urothelial carcinoma (UC) developed after kidney transplantation (UCKT) and in UC in patients on hemodialysis (UCHD). Specific gene mutations were found in UCKT, potentially contributing to the understanding of the molecular pathogenesis of urothelial carcinoma.
JOURNAL OF TRANSLATIONAL MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Boqiang Fan, Xianfeng Xu, Xuehao Wang
Summary: In gallbladder cancer patients, there is a high consistency in the genetic landscape between primary tumors and metastatic lymph nodes, but heterogeneity still exists in certain patients. The study also reveals both linear and parallel progression of metastasis.
MOLECULAR BIOLOGY REPORTS
(2022)
Article
Oncology
Wenxin Zhang, Ruixia Wang, Huan Fang, Xiangyuan Ma, Dan Li, Tao Liu, Zhenxi Chen, Ke Wang, Shiguang Hao, Zicheng Yu, Zhili Chang, Chenglong Na, Yin Wang, Jian Bai, Yanyan Zhang, Fang Chen, Miao Li, Chao Chen, Liangshen Wei, Jinghua Li, Xiaoyan Chang, Shoufang Qu, Ling Yang, Jie Huang
Summary: This study established a linear model to correlate wesTMB and psTMB. It was found that psTMB could be a representative of wesTMB, and even in samples with low tumor content, psTMB could accurately classify TMB high and low patients.
CLINICAL AND TRANSLATIONAL MEDICINE
(2021)
Article
Oncology
Wei Wang, Fan Zhang, Yan Li, Bo Chen, Yu Gu, Ying Shan, Yaping Li, Wei Chen, Ying Jin, Lingya Pan
Summary: By studying the mutational landscape of small cell neuroendocrine carcinomas of the cervix and endometrium, two subtypes with distinct mutated pathways and potential therapy targets were identified. The dMMR-like type NECC and NECE may share a similar carcinogenesis process that involves dysfunction of the PI3K/AKT signaling, cell cycle abnormalities, antiapoptotic processes, and chromatin remodeling activity.
FRONTIERS IN ONCOLOGY
(2023)
Article
Oncology
Marisa Schmitt, Tobias Sinnberg, Heike Niessner, Andrea Forschner, Claus Garbe, Boris Macek, Nicolas C. Nalpas
Summary: Melanoma is a highly aggressive form of skin cancer with poor prognosis, and immune checkpoint inhibitors have shown clinical activity but face challenges with resistance. Personalized medicine is crucial for effective patient therapy. Proteogenomics integrates genomic and proteomic data to study cancer development, heterogeneity, and resistance mechanisms, offering potential for personalized therapy options.
Article
Genetics & Heredity
Anita Sveen, Bjarne Johannessen, Ina A. Eilertsen, Bard Rosok, Marie Gulla, Peter W. Eide, Jarle Bruun, Kushtrim Kryeziu, Leonardo A. Meza-Zepeda, Ola Myklebost, Bjorn A. Bjornbeth, Rolf Skotheim, Arild Nesbakken, Ragnhild A. Lothe
Summary: Only a subset of mutations in microsatellite stable colorectal cancers were expressed, and the expressed mutation dose may provide an opportunity for more fine-tuned biomarker interpretations.
Article
Genetics & Heredity
Marc Woodbury-Smith, Sylvia Lamoureux, Ghausia Begum, Nasna Nassir, Hosneara Akter, Darren D. O'Rielly, Proton Rahman, Richard F. Wintle, Stephen W. Scherer, Mohammed Uddin
Summary: This study conducted whole exome sequencing on ASD brain tissue samples and identified a small number of rare post-zygotic mutations and germline mutations in key ASD genes. The establishment of tissue resources available to the scientific community will facilitate the discovery of new mutations for ASD and other neurodevelopmental disorders.
Article
Oncology
Zhu Liu, Lian-Lian Hong, Jin-Sen Zheng, Zhe-Nan Ling, Zhi-Long Zhang, Ya-Nan Qi, Xin-Yu Zhang, Tian-Yu Zhu, Jiu-Li Wang, Jing Han, Xiang-Liu Chen, Qi-Ming Yu, Shi Wang, Pei Li, Zhi-Qiang Ling
Summary: This study provides the first integrative genomic and transcriptomic profiles of primary gastric linitis plastica (GLP), a distinct subtype of gastric cancer. Dysfunction in the Hippo pathway and mutations in genes such as MUC6 and CDH1 are key characteristics of GLP. Additionally, GLP exhibits high immunodeficiency and low AMPK pathway activity. Up-regulation of PI3K-AKT pathway-related genes, IGF2BP3 and MUC16, is associated with PI3K-AKT pathway activity in GLP.
Article
Genetics & Heredity
Wei-Ting Tu, Ping-Chen Hou, Peng-Chieh Chen, Wan-Rung Chen, Hsin-Yu Huang, Jing-Yu Wang, Yi-Ting Huang, Yi-Huei Wu, Chun-Lin Su, Yen-An Tang, Hiroaki Iwata, Ken Natsuga, Sheau-Chiou Chao, H. Sunny Sun, Ming-Jer Tang, Julia Yu-Yun Lee, John A. A. McGrath, Chao-Kai Hsu
Summary: This study collected clinical information from EB patients in Taiwan and identified related mutations through various diagnostic tests, including discovering novel mutations associated with EB. The findings expand our understanding of the clinical presentation and molecular pathology of EB in Taiwan.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Article
Oncology
Akanksha Farswan, Lingaraja Jena, Gurvinder Kaur, Anubha Gupta, Ritu Gupta, Lata Rani, Atul Sharma, Lalit Kumar
Summary: The study revealed the presence of evolving clonal heterogeneity in multiple myeloma, with some patients showing branching evolution and varying numbers of clonal genotypes during progression from diagnosis.
AMERICAN JOURNAL OF CANCER RESEARCH
(2021)
Article
Endocrinology & Metabolism
Zing Hong Eng, Mardiaty Iryani Abdullah, Khoon Leong Ng, AzlinaAbdul Aziz, Nurul Hannis Arba'ie, Nurullainy Mat Rashid, Sarni Mat Junit
Summary: This study evaluated the molecular mechanism differences between benign thyroid goitre (BTG) and papillary thyroid cancer (PTC) without BTG background and with BTG background by analyzing gene mutation patterns. Principal component analysis showed distinct mutation profiles among the three groups. A total of 36 tumor-related genes were identified in all groups. Pathways in cancer, DNA repair, and Fanconi anemia pathway were shared by all groups, while the Jak-STAT signaling pathway and Notch signaling pathway were significantly enriched only in PTC with BTG background.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Oncology
Jill C. Rubinstein, Ali Foroughi Pour, Jie Zhou, Todd B. Sheridan, Brian S. White, Jeffrey H. Chuang
Summary: This study utilizes deep learning to analyze tissue slides of colon cancer patients, aiming to identify and quantify tumor features and heterogeneity. The results show that MSI status can be predicted using H&E stained images with higher accuracy compared to traditional detection methods.
JOURNAL OF SURGICAL ONCOLOGY
(2023)
Article
Endocrinology & Metabolism
Karolina Solhuslokk Hose, Adam Stenman, Fredrika Svahn, Catharina Larsson, C. Christofer Juhlin
Summary: This study found a significant association between high TOP2A mRNA expression and metastatic events, specific histological features, clinical parameters, and SDHB mutations in PPGL. TOP2A has potential as a prognostic marker, and further research is needed to confirm its role in prognosis evaluation.
ENDOCRINE PATHOLOGY
(2023)
Review
Oncology
C. Christofer Juhlin, Ozgur Mete, Zubair W. Baloch
Summary: The World Health Organization has released the fifth edition of the Classification of Endocrine and Neuroendocrine Tumors. This publication includes changes to the nomenclature of thyroid diseases and introduces novel concepts important for patient management. The classification now groups non-neoplastic and benign neoplastic lesions under 'thyroid follicular nodular disease', reflecting their clonal and non-clonal proliferations in multinodular goiter. Thyroid neoplasms originating from follicular cells are categorized into benign, low-risk, and malignant neoplasms, emphasizing the subtyping of papillary thyroid carcinoma based on histomorphologic features and redefining the cribriform-morular variant as cribriform-morular thyroid carcinoma. The review highlights the key changes in the fifth edition and their impact on patient management and future directions in this field.
ENDOCRINE-RELATED CANCER
(2023)
Article
Oncology
Katherine M. Bates, Ioannis Vathiotis, Tyler MacNeil, Fahad Shabbir Ahmed, Thazin Nwe Aung, Yuliya Katlinskaya, Sabyasachi Bhattacharya, Amanda Psyrri, Steven Yea, Amanda Parkes, Nooshin Hashemi Sadraei, Siddhartha Roychoudhury, David L. Rimm, Niki Gavrielatou
Summary: This study used quantitative immunofluorescence to evaluate CD40 expression on solid tumors, including lung, ovarian, and pancreatic cancers. The results showed a high percentage of tumor cells expressing CD40, but no significant impact on overall survival.
Article
Medical Laboratory Technology
Martin Hysek, L. Samuel Hellgren, Adam Stenman, Eva Darai-Ramqvist, Elin Ljung, Igor Schliemann, Vincenzo Condello, Catharina Larsson, Jan Zedenius, Kenbugul Jatta, C. Christofer Juhlin
Summary: Despite the reliance on morphological assessment, molecular testing can enhance the diagnostic and prognostic value of thyroid fine-needle aspiration cytology (FNAC). This study utilized ddPCR to detect TERT promoter mutations in preoperative FNAC material, and found that TERT mutations were associated with malignant disease and higher Ki-67 proliferation indices.
DIAGNOSTIC CYTOPATHOLOGY
(2023)
Letter
Endocrinology & Metabolism
Ozgur Mete, C. Christofer Juhlin
ENDOCRINE PATHOLOGY
(2023)
Review
Endocrinology & Metabolism
Jan Calissendorff, C. Christofer Juhlin, Anders Sundin, Irina Bancos, Henrik Falhammar
Summary: Adrenal cysts are rare lesions that are mostly asymptomatic and detected incidentally, but can also be phaeochromocytomas or adrenal malignant masses. They are categorized into pseudocysts, endothelial cysts, epithelial cysts, and parasitic cysts. Radiologically, adrenal cysts have similar appearance to kidney cysts with well demarcated, rounded, thin-walled structures that are low attenuating on CT and have specific signals on MRI and ultrasonography. Conservative management is recommended for asymptomatic cysts, but additional work-up or follow-up is needed if uncertainty exists.
NATURE REVIEWS ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Joachim N. Nilsson, Jonathan Siikanen, Vincenzo Condello, Kenbugul Jatta, Ravi Saini, Christel Hedman, Catharina Ihre Lundgren, C. Christofer Juhlin
Summary: This study identified factors associated with lower iodine avidity in thyroid cancer, such as BRAF mutation and TERT promoter mutation. By using a comprehensive model incorporating histological subtype, TPO and NIS expression, and TERT promoter mutation, iodine avidity in thyroid cancer tissue can be predicted, informing treatment adaptation.
EUROPEAN THYROID JOURNAL
(2023)
Article
Cell Biology
Martin Hysek, Samuel L. L. Hellgren, Vincenzo Condello, Yiyi Xu, Catharina Larsson, Jan Zedenius, C. Christofer Juhlin
Summary: Telomerase reverse transcriptase (TERT) gene aberrancies are associated with adverse prognosis in follicular thyroid carcinoma (FTC). This study analyzed the levels of 5-hydroxymethylcytosine (5hmC) in follicular thyroid tumors to investigate its relationship with TERT promoter mutations. The results showed that 5hmC immunohistochemistry is not a sensitive marker for detecting TERT promoter mutations in follicular thyroid tumors.
JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY
(2023)
Editorial Material
Oncology
Adam Stenman, Carl Christofer Juhlin
Article
Endocrinology & Metabolism
Adam Stenman, Henrik Falhammar, Jan Zedenius, C. Christofer Juhlin
Summary: This study investigated the clinical and pathological features of adrenal schwannoma (AS) and periadrenal schwannoma (PAS), and found that these tumors are extremely rare and the genetic mechanisms underlying their development are not well understood. Through comprehensive analysis of four cases, it was found that these tumors mostly exhibit benign pathology and no relapse or metastasis was observed. Therefore, it is important for radiologists, endocrinologists, surgeons, and pathologists to be aware of the characteristics of this type of tumor.
Article
Endocrinology & Metabolism
Joachim N. Nilsson, Per Gryback, C. Christofer Juhlin, Christel Hedman, Catharina Ihre Lundgren
Summary: This study aimed to clarify the relationship between pre-therapeutic iodine avidity in primary tumour tissue, initial lymph node metastases and iodine uptake in subsequent metastases. The results indicate a close link between pre-therapeutically measured iodine concentrations in primary tumours with iodine avidity of any subsequent metastases.
Review
Pathology
C. Christofer Juhlin, Munita Bal
Summary: The spectrum of neuroendocrine neoplasia (NEN) in the head and neck region is wide-ranging and diverse, with various diagnoses from benign to malignant forms. Differential diagnoses and potential pitfalls should be considered due to similarities with other non-neuroendocrine tumors.
HEAD & NECK PATHOLOGY
(2023)
Review
Oncology
Dan Granberg, Carl Christofer Juhlin, Henrik Falhammar, Elham Hedayati
Summary: Lung carcinoids are categorized as typical or atypical based on their histological appearance. Most of these tumors are slow-growing but possess malignant potential. Many patients are incidentally diagnosed on chest X-rays or CT scans, with symptoms including cough, hemoptysis, wheezing, dyspnea, and recurrent pneumonia. Endocrine symptoms are rare. Surgery is the primary treatment, even when lymph node metastases are present. Patients with distant metastases may be treated with somatostatin analogues, temozolomide-based chemotherapy, mTOR inhibitors, or PRRT with 177Lu-DOTATATE. Prognosis is generally excellent, but atypical histology and lymph node metastases at diagnosis are poor prognostic factors. Long-term follow-up is necessary for timely detection of metastases.
