Article
Endocrinology & Metabolism
Yi Yang, An Song, Min Nie, Yan Jiang, Mei Li, Weibo Xia, Xiaoping Xing, Ou Wang, Ya Hu
Summary: This study confirmed a novel 130 kb long-range deletion spanning CDC73 in a female PC patient and found similar results in her family members, which were associated with familial hyperparathyroidism and PC.
Article
Pathology
Yike Gao, Pan Wang, Junliang Lu, Boju Pan, Dan Guo, Zixin Zhang, Anqi Wang, Miao Zhang, Jian Sun, Wenze Wang, Zhiyong Liang
Summary: This study investigates the role of parafibromin immunohistochemistry in distinguishing malignant from benign parathyroid tumors. The loss of parafibromin expression was found only in malignant tumors, while all adenomas showed positive staining. The sensitivity of parafibromin staining in detecting invasion was 58%, with a specificity of 100%. When considering metastasis as the gold standard, the sensitivity increased to 100% and the specificity was 84%. These findings suggest that parafibromin immunohistochemistry may be helpful in differentiating malignant and benign parathyroid tumors.
Article
Cell Biology
Gang Xiang, Shuxuan Wang, Ling Chen, Mei Song, Xiaoxu Song, Huan Wang, Pengbo Zhou, Xiaojing Ma, Jing Yu
Summary: This study reveals that CDC73, a substrate of UBR5, plays a crucial role in inhibiting tumor growth and metastasis in triple-negative breast cancer (TNBC) and is negatively associated with breast cancer progression. Destabilizing CDC73 through polyubiquitination provides a potential approach to suppress the pro-tumor activities of UBR5.
CELL DEATH & DISEASE
(2022)
Review
Biochemistry & Molecular Biology
Romans Uljanovs, Stanislavs Sinkarevs, Boriss Strumfs, Liga Vidusa, Kristine Merkurjeva, Ilze Strumfa
Summary: Immunohistochemistry is an indispensable tool in diagnostic surgical pathology, and it has various applications in parathyroid tumors. These applications include detecting specific protein loss, aberrant immunophenotype, histogenesis of neck masses, and pathogenetic events.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Cell Biology
E. Ying, Hang Xue, Cong-Yu Zhang, Ming-Zhen Zhao, Hua-Chuan Zheng
Summary: This study found that mutation of the CDC73 gene leads to the involvement of fibromin in various cancers, including breast cancer. Through various experiments and comparison of clinical characteristics, it was discovered that multiple genes and pathways were significantly up-regulated in breast cancer, and were closely correlated with patient prognosis.
HISTOLOGY AND HISTOPATHOLOGY
(2023)
Review
Endocrinology & Metabolism
Lori A. Erickson, Ozgur Mete, C. Christofer Juhlin, Aurel Perren, Anthony J. Gill
Summary: The 2022 WHO classification reflects advancements in the understanding of the underlying pathogenesis of parathyroid disease. It emphasizes the importance of genetic abnormalities and introduces new terms and entities to accurately classify parathyroid tumors. Additionally, researchers recommend the use of molecular immunohistochemistry to further explore the disease.
ENDOCRINE PATHOLOGY
(2022)
Article
Endocrinology & Metabolism
Rana Tora, James Welch, Jian Sun, Sunita K. Agarwal, Debra A. Bell, Maria Merino, Lee S. Weinstein, William F. Simonds, Smita Jha
Summary: This study retrospectively characterized HPT-JT syndrome and found an increased risk of parathyroid cancer associated with the disease. The study also identified a correlation between HPT-JT and uterine tumors and kidney tumors, and investigated the mutations of the CDC73 gene.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Cell Biology
Hojin Lee, Tae-Hyeon Kim, Joo-Yeon Yoo
Summary: Cells form stress granules (SGs) under stress conditions, and these granules contain various proteins including RNA-binding proteins and transcription regulators. Human (h)Cdc73, a component of the PAF1 transcription complex, translocates to cytosolic SGs in response to arsenic stress. The translocation of hCdc73 requires its intrinsically disordered region (IDR) and physical interactions with SG carrier proteins. Restraining negative regulators within SGs controls the availability of mRNAs for stress-responsive genes, leading to changes in post-transcriptional levels.
JOURNAL OF CELL SCIENCE
(2023)
Article
Endocrinology & Metabolism
Chinthana Dematapitiya, Chiara Perera, Sivatharshiya Pathmanathan, Vindya Subasinghe, Gayani Anandagoda, Vajira Dissanayaka, Umesha Wijenayake, Preethi Dissanayake, Kavinga Gamage, Piyumi Wijewickrama, Manilka Sumanatilleke
Summary: This case highlights the importance of stringent follow-up of patients with atypical parathyroid adenoma, the benefits of second trimester surgery for the treatment of hypercalcemia caused by parathyroid carcinoma during pregnancy, and the significance of identifying novel CDC73 gene mutations.
BMC ENDOCRINE DISORDERS
(2022)
Article
Endocrinology & Metabolism
Sung Hye Kong, Joon-Hyop Lee, Jeong Mo Bae, Namki Hong, Hyeyoon Kim, So Young Park, Yong Jun Choi, Sihoon Lee, Yumie Rhee, Sang Wan Kim, Dohyun Han, Jung Hee Kim, Chan Soo Shin
Summary: This study aimed to identify protein signatures for the diagnosis of parathyroid carcinoma (PC) through quantitative proteomic analyses. It identified 5 proteins that can discriminate PC from parathyroid adenoma (PA) and found that the nuclear percentage of carbonic anhydrase 4 and laminin subunit beta-2 was significantly lower in PC tissue. The findings of this study can contribute to the accurate diagnosis of PC and the discovery of potential therapeutic targets.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2023)
Article
Medicine, General & Internal
Min-Kyung Kim
Summary: Parafibromin has significant clinicopathologic significance in hepatocellular carcinoma (HCC), with elevated expression being correlated with microvascular invasion, hepatitis virus infection-induced occurrence, and poorer tumor differentiation. HCC patients with elevated parafibromin expression also have poorer recurrence-free and overall survival.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Endocrinology & Metabolism
Lauriane Le Collen, Sara Barraud, Antoine Braconnier, Lucie Coppin, Dominique Zachar, Camille Boulagnon, Sophie Deguelte, Pierre Francois Souchon, Marta Spodenkiewicz, Celine Poirsier, Sebastien Aubert, Marie Francoise Odou, Brigitte Delemer
Summary: A large 4-generation family with Hyperparathyroidism-Jaw Tumor syndrome (HPT-JT) associated with a rare deletion of exon 3 of the CDC73 gene was described in this study. The family members showed a range of symptoms including hypercalcemia, kidney disease related to hypercalcemia, and atypical parathyroid adenomas without carcinomas. The penetrance of the deletion was estimated at 50% at 40 years, and the onset and intensity of HPT were found to be unpredictable. Additional somatic mutations in the parathyroid tumors could contribute to phenotypical variations.
Article
Endocrinology & Metabolism
Yingyu Chen, An Song, Min Nie, Yan Jiang, Mei Li, Weibo Xia, Ou Wang, Xiaoping Xing
Summary: This study investigated the clinical and molecular characteristics of atypical parathyroid adenoma (APA) in a large cohort from mainland China. APA patients showed milder clinical and biochemical features compared to parathyroid cancer (PC) and had a similar prognosis to benign lesions. Germline gene variations were associated with earlier onset and possibly more recurrence of primary hyperparathyroidism in APA.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Maxim Barnett, Farhan Ahmed, Radu Mihai, Asha Rattan, Malik Asif Humayun
Summary: Hypercalcaemia and primary hyperparathyroidism are common in endocrinology, with familial factors potentially playing a role in the latter. Consideration for genetic screening is important in patients not fitting the classic profile for primary hyperparathyroidism, to identify rare cases like hyperparathyroidism-jaw tumour syndrome.
CASE REPORTS IN ENDOCRINOLOGY
(2021)
Article
Medicine, General & Internal
Ce Shi, Ning Lu, Yan-Jie Yong, Hai-Di Chu, Ai-Jun Xia
Summary: As PC is difficult to diagnose preoperatively due to nonspecific clinical signs and laboratory results, imaging examinations are often needed. This report summarizes the diagnosis and treatment of three cases of PC and explores the value of ultrasound in the diagnosis of PC by referring to other relevant cases.
WORLD JOURNAL OF CLINICAL CASES
(2023)
Correction
Genetics & Heredity
Yuan Yuan, Young Seok Ju, Youngwook Kim, Jun Li, Yumeng Wang, Christopher J. Yoon, Yang Yang, Inigo Martincorena, Chad J. Creighton, John N. Weinstein, Yanxun Xu, Leng Han, Hyung-Lae Kim, Hidewaki Nakagawa, Keunchil Park, Peter J. Campbell, Han Liang
Summary: A revised version of this paper has been published and can be accessed through a link at the top.
Article
Oncology
Atara Posner, Owen Wj Prall, Tharani Sivakumaran, Dariush Etemadamoghadam, Niko Thio, Andrew Pattison, Shiva Balachander, Krista Fisher, Samantha Webb, Colin Wood, Anna DeFazio, Nicholas Wilcken, Bo Gao, Christos S. Karapetis, Madhu Singh, Ian M. Collins, Gary Richardson, Christopher Steer, Mark Warren, Narayan Karanth, Gavin Wright, Scott Williams, Joshy George, Rodney J. Hicks, Alex Boussioutas, Anthony J. Gill, Benjamin J. Solomon, Huiling Xu, Andrew Fellowes, Stephen B. Fox, Penelope Schofield, David Bowtell, Linda Mileshkin, Richard W. Tothill
Summary: This study compared the diagnostic utility of RNA and DNA tests in 215 CUP patients, and found that DNA mutation profiling was more diagnostically informative, especially for cases unresolved by clinicopathology assessment alone.
JOURNAL OF PATHOLOGY
(2023)
Article
Surgery
David Leong, Anthony J. Gill, John Turchini, Michael Waller, Roderick Clifton-Bligh, Anthony Glover, Mark Sywak, Stan Sidhu
Summary: Encapsulated angioinvasive follicular thyroid carcinoma is associated with an increased risk of distant metastasis, and the treatment approach should be based on the number of foci of angioinvasion.
WORLD JOURNAL OF SURGERY
(2023)
Article
Endocrinology & Metabolism
John Turchini, Loretta Sioson, Adele Clarkson, Amy Sheen, Leigh Delbridge, Anthony Glover, Mark Sywak, Stan Sidhu, Anthony J. Gill
Summary: PTCs are driven by various molecular abnormalities including BRAF, RAS, ALK, RET, and NTRK alterations. BRAFV600E-like atypia, characterized by specific morphological features, is highly specific for the presence of the BRAFV600E mutation in PTCs. However, the absence of BRAFV600E-like atypia does not exclude the presence of this mutation.
ENDOCRINE PATHOLOGY
(2023)
Correction
Multidisciplinary Sciences
Ludmil B. Alexandrov, Jaegil Kim, Nicholas J. Haradhvala, Mi Ni Huang, Alvin Wei Tian Ng, Yang Wu, Arnoud Boot, Kyle R. Covington, Dmitry A. Gordenin, Erik N. Bergstrom, S. M. Ashiqul Islam, Nuria Lopez-Bigas, Leszek J. Klimczak, John R. McPherson, Sandro Morganella, Radhakrishnan Sabarinathan, David A. Wheeler, Ville Mustonen, Gad Getz, Steven G. Rozen, Michael R. Stratton
Correction
Multidisciplinary Sciences
Claudia Calabrese, Natalie R. Davidson, Deniz Demircioglu, Nuno A. Fonseca, Yao He, Andre Kahles, Kjong-Van Lehmann, Fenglin Liu, Yuichi Shiraishi, Cameron M. Soulette, Lara Urban, Liliana Greger, Siliang Li, Dongbing Liu, Marc D. Perry, Qian Xiang, Fan Zhang, Junjun Zhang, Peter Bailey, Serap Erkek, Katherine A. Hoadley, Yong Hou, Matthew R. Huska, Helena Kilpinen, Jan O. Korbel, Maximillian G. Marin, Julia Markowski, Tannistha Nandi, Qiang Pan-Hammarstrom, Chandra Sekhar Pedamallu, Reiner Siebert, Stefan G. Stark, Hong Su, Patrick Tan, Sebastian M. Waszak, Christina Yung, Shida Zhu, Philip Awadalla, Chad J. Creighton, Matthew Meyerson, B. F. Francis Ouellette, Kui Wu, Huanming Yang, Alvis Brazma, Angela N. Brooks, Jonathan Goeke, Gunnar Raetsch, Roland F. Schwarz, Oliver Stegle, Zemin Zhang
Correction
Multidisciplinary Sciences
Yilong Li, Nicola D. Roberts, Jeremiah A. Wala, Ofer Shapira, Steven E. Schumacher, Kiran Kumar, Ekta Khurana, Sebastian Waszak, Jan O. Korbel, James E. Haber, Marcin Imielinski, Joachim Weischenfeldt, Rameen Beroukhim, Peter J. Campbell
Article
Surgery
Alexander J. J. Papachristos, Mohamed Eftal Bin Mohamed Ebrahim, Talia L. L. Fuchs, Anthony J. J. Gill, Leigh Delbridge, Jonathan Serpell, Stan B. B. Sidhu
Summary: This article reports three cases initially diagnosed with benign follicular lesions, but later developed locally recurrent and eventually metastatic disease. We describe a rare entity of follicular thyroid carcinoma that shows persistent benign pathological findings despite its malignant disease course. If local recurrence occurs in discrete anatomical tissue planes or in the thyroid bed following surgery, the possibility of this rare presentation should be considered.
ANZ JOURNAL OF SURGERY
(2023)
Article
Surgery
Kevin Tree, Krishna Kotecha, Jenna Reeves, Lucy Aitchison, Juanita Noeline Chui, Anthony J. Gill, Anubhav Mittal, Jaswinder S. Samra
Summary: The aim of this study was to determine the optimal resection strategy for Meckel's diverticulum (MD) and assess its histopathological features and their relationship to outcomes. The study found that Meckel's diverticulectomy is safer and has fewer complications compared to small bowel resection. MD with a greater length:width ratio is at risk for perforation. Overall, this supports diverticulectomy as a safe operative approach.
ANZ JOURNAL OF SURGERY
(2023)
Article
Endocrinology & Metabolism
John Turchini, Talia L. Fuchs, Angela Chou, Loretta Sioson, Adele Clarkson, Amy Sheen, Leigh Delbridge, Anthony Glover, Mark Sywak, Stan Sidhu, Anthony J. Gill
Summary: Tall cell papillary thyroid carcinoma (TC-PTC) is considered adverse histology and its prognostic significance remains unclear. This study found that the height and percentage of tall cells are associated with disease free survival (DFS). However, the independent prognostic value of TC-PTC and the criteria for its diagnosis are still debated.
ENDOCRINE PATHOLOGY
(2023)
Letter
Pathology
Yagiz A. Aksoy, Angela Chou, Mahiar Mahjoub, Amy Sheen, Loretta Sioson, Mahsa S. Ahadi, Anthony J. Gill, Talia L. Fuchs
Review
Oncology
Kevin Tran, Owen W. J. Prall, Catherine Mitchell, Angela Chou, Anthony J. Gill, Sean M. Grimmond, Grace Kong, Gareth Kiernan, Cristina Torche, Lara Lipton, Benjamin Thomson, H. S. Ko
Summary: Pancreatic acinar cell carcinoma (ACC) is a rare pancreatic neoplasm that is often difficult to diagnose due to lack of awareness and knowledge about its clinical, radiological, and pathological characteristics. Accurate diagnosis is crucial as it can be easily mistaken for pancreatic ductal adenocarcinoma (PDAC) or pancreatic neuroendocrine tumor (PNET). This case study highlights the importance of integrating clinical, imaging, molecular histopathological, and genomic analysis for the diagnosis and treatment of complex pancreatic ACC.
CURRENT PROBLEMS IN CANCER: CASE REPORTS
(2023)
Meeting Abstract
Medicine, Research & Experimental
Bin Xu, Kartik Viswanathan, Daniel Lubin, Talia Fuchs, Bayan Alzumaili, Mohamed Amine Bani, David Behrman, Dario de Biase, Angela Chou, Antonio De Leo, Snjezana Dogan, Kelly Magliocca, Thais Maloberti, Abhinita Mohanty, Jean-Yves Scoazec, Qiuying (Judy) Shi, Brian Untch, Ian Ganly, Justine Barletta, Abir Al Ghuzlan, Anthony Gill, Giovanni Tallini, Ronald Ghossein
LABORATORY INVESTIGATION
(2023)
Review
Surgery
Kevin Tree, Krishna Kotecha, Shreya Mehta, Talia L. Fuchs, Christopher W. Toon, Anthony J. Gill, Jaswinder S. Samra, Anubhav Mittal
Summary: This study presented a case report of a patient with pancreatic granular cell tumour (GCT) and conducted a comprehensive review of the literature to identify common diagnostic features associated with GCT. The findings showed that common symptoms of GCT include abdominal pain and dilated pancreatic duct, with imaging revealing distal parenchymal atrophy but no focal lesion. Multidisciplinary team recommended endoscopic ultrasound and CT, and surgical resection to prevent malignant transformation.
LANGENBECKS ARCHIVES OF SURGERY
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Madelon J. H. Metman, Pascal K. C. Jonker, Luc H. J. Sondorp, Bettien M. van Hemel, Mark S. Sywak, Anthony J. Gill, Liesbeth Jansen, Paul J. van Diest, Tessa M. van Ginhoven, Clemens W. G. M. Lowik, Anh H. Nguyen, Dominic J. Robinson, Gooitzen M. van Dam, Thera P. Links, Rob P. Coppes, Rudolf S. N. Fehrmann, Schelto Kruijff
Summary: This study evaluated the use of EMI-137 targeted molecular fluorescence-guided imaging (MFGI) and spectroscopy as a tool for intra-operative detection of uni- and multifocal papillary thyroid cancer (PTC) to improve disease staging and treatment selection.
EUROPEAN JOURNAL OF NUCLEAR MEDICINE AND MOLECULAR IMAGING
(2023)