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.
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)
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
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
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
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
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)
Review
Biochemistry & Molecular Biology
Carl R. Dahlen, Pawel P. Borowicz, Alison K. Ward, Joel S. Caton, Marta Czernik, Luca Palazzese, Pasqualino Loi, Lawrence P. Reynolds
Summary: Assisted reproductive techniques (ART) and parental nutritional status have significant impacts on embryonic and fetal development, potentially mediated through programming of gene expression. Epigenetic changes may lead to long-term alterations in organ structure and function in offspring after birth.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Endocrinology & Metabolism
Marco Barale, Alice Nervo, Andrea Craparo, Alessia Pusterla, Francesca Retta, Federica Maiorino, Elena Castellano, Alessandro Piovesan, Laura Gianotti, Giorgio Borretta, Massimo Procopio, Emanuela Arvat
Summary: This study aims to investigate disease recurrence and mortality rate in patients with parathyroid carcinoma (PC) and atypical adenoma (AA) after surgery, as well as their predictors. No significant differences in baseline characteristics were found between the two groups, except for higher KI67 values in PC than AA. During a seven-year follow-up, there were no significant differences in recurrence and mortality rate between PC and AA patients, and death was associated with disease relapse, older age, and higher KI67 values.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Lihui Chen, Ci Shan, Shuqin Xu, Xianzhao Deng, Bomin Guo, Qiong Jiao, Li Zhang, Youben Fan, Hua Yue, Zhenlin Zhang
Summary: This study performed single-cell transcriptomic analysis on parathyroid adenoma and parathyroid carcinoma samples, revealing significant heterogeneity and identifying potential cell cycle regulators in parathyroid carcinoma tumorigenesis. The study also found that the tumor microenvironment in parathyroid carcinoma is immunosuppressive, and fibroblast-endothelial cell interactions may stimulate parathyroid carcinoma development.
JOURNAL OF BONE AND MINERAL RESEARCH
(2023)
Editorial Material
Radiology, Nuclear Medicine & Medical Imaging
Wei Liu, Jian-Min Huang, Mei-Chao Guan, Peng Xie
Summary: In this article, we report a rare case of coexistence of parathyroid hyperplasia and carcinoma, and present the findings of Tc-99m-sestamibi SPECT/CT study.
CLINICAL NUCLEAR MEDICINE
(2022)
Article
Endocrinology & Metabolism
Rita Laforgia, Giovanni Tomasicchio, Federica Cavalera, Maria Sblendorio, Annamaria Spadone, Ferdinando Massimiliano Anelli, Pierluigi Lobascio, Rinaldo Marzaioli, Annunziata Panebianco, Angela Pezzolla
Summary: This study evaluated the management and surgical treatment of parathyroid carcinoma at the Endocrine Surgery Unit of the University Hospital of Bari. The results showed that surgical approach is the best option for parathyroid carcinoma and early identification of high-risk patients is crucial for appropriate treatment.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Pathology
Romans Uljanovs, Ilze Strumfa, Guntis Bahs, Liga Vidusa, Kristine Merkurjeva, Ivanda Franckevica, Boriss Strumfs
Summary: This study evaluated the molecular landscape and heterogeneity in primary parathyroid hyperplasia and adenoma, revealing significant differences in the expression of various markers. Proliferative lesions exhibited up-regulated CK19 and distinctive patterns of vimentin, while certain markers like CD44, CD56, and p53 were nearly absent from parathyroid tissues. The findings highlight the remarkable heterogeneity of cell cycle markers and intermediate filaments, emphasizing the importance for scientific studies and diagnostic cut-offs.
POLISH JOURNAL OF PATHOLOGY
(2021)
Article
Oncology
Klaus-Martin Schulte, Gabriele Galata, Nadia Talat
Summary: This study characterizes the clinical features of mediastinal parathyroid cancer (MPC) and proposes a simple composite indicator, the 3 + 3 rule, to accurately predict malignancy in the majority of patients with mediastinal parathyroid neoplasms (MPNs).
Article
Endocrinology & Metabolism
Katie U. Gaynor, Irina Grigorieva, Samantha M. Mirczuk, Sian Piret, Kreepa G. Kooblall, Mark Stevenson, Karine Rizzoti, Mike R. Bowl, M. Andrew Nesbit, Paul T. Christie, William D. Fraser, Tertius Hough, Michael P. Whyte, Robin Lovell-Badge, Rajesh Thakker
ENDOCRINE CONNECTIONS
(2020)
Review
Urology & Nephrology
Sarah A. Howles, Rajesh V. Thakker
NATURE REVIEWS UROLOGY
(2020)
Review
Endocrinology & Metabolism
Andrew Arnold, Elaine Dennison, Christopher S. Kovacs, Michael Mannstadt, Rene Rizzoli, Maria Luisa Brandi, Bart Clarke, Rajesh V. Thakker
Summary: This article discusses the physiological and pathological aspects of hormonal regulation of biomineralization, emphasizing the importance of mineral intake, serum concentrations of mineral, and hormonal regulators in this process. It also highlights the crucial role of biomineralization in providing rigidity and flexibility to the skeleton, and the balance required for proper skeletal metabolism.
NATURE REVIEWS ENDOCRINOLOGY
(2021)
Review
Endocrinology & Metabolism
Christopher S. Kovacs, Catherine Chaussain, Philip Osdoby, Maria Luisa Brandi, Bart Clarke, Rajesh V. Thakker
Summary: The major mineralized tissues, bone and teeth, share mechanisms governing their development and mineralization, including hormonal regulation and gene control. Systemic disorders and treatments can affect both bone and teeth similarly, with teeth experiencing more permanent effects due to lack of remodeling after formation. Understanding these shared mechanisms is crucial for screening and treating disorders affecting both bone and teeth.
NATURE REVIEWS ENDOCRINOLOGY
(2021)
Review
Endocrinology & Metabolism
Paul J. Newey, Fadil M. Hannan, Abbie Wilson, Rajesh Thakker
Summary: Disorders of calcium homeostasis are common metabolic bone diseases encountered by endocrinologists, with some cases having a monogenic etiology. Recognition and diagnosis of these disorders are important for patient management and identifying family members at risk of disease.
CLINICAL ENDOCRINOLOGY
(2022)
Article
Biology
Yoanna Ariosa-Morejon, Alberto Santos, Roman Fischer, Simon Davis, Philip Charles, Rajesh Thakker, Angus K. T. Wann, Tonia L. Vincent
Summary: By using in vivo pulsed SILAC labelling, the study found reduced new protein incorporation in cartilage, bone, and skin with age. Age-related diseases may be associated with changes in epigenetic modulators, decreased growth factors, mitochondrial dysregulation, and reduced collagen synthesis.
Article
Endocrinology & Metabolism
Michael Mannstadt, Luisella Cianferotti, Rachel Gafni, Francesca Giusti, Elizabeth Helen Kemp, Christian A. Koch, Kelly L. Roszko, Liam Yao, Gordon H. Guyatt, Rajesh Thakker, Weibo Xia, Maria-Luisa Brandi
Summary: This article summarizes the diagnostic criteria for hypoparathyroidism and discusses the clinical presentation and genetic causes of the nonsurgical forms. It provides an update on these topics and suggests a research agenda for improving diagnosis and prognosis. The article also discusses the characteristics of measuring calcium and PTH and the utility of these measurements in predicting long-term hypoparathyroidism. In addition, it addresses the genetic diagnosis of hypoparathyroidism and the associated phenotypic characteristics.
JOURNAL OF BONE AND MINERAL RESEARCH
(2022)
Review
Endocrinology & Metabolism
John P. Bilezikian, Aliya A. Khan, Shonni J. Silverberg, Ghada El-Hajj Fuleihan, Claudio Marcocci, Salvatore Minisola, Nancy Perrier, Antonio Sitges-Serra, Rajesh Thakker, Gordon Guyatt, Michael Mannstadt, John T. Potts, Bart L. Clarke, Maria Luisa Brandi
Summary: The last international guidelines on the evaluation and management of primary hyperparathyroidism (PHPT) were published in 2014. New research since then has led to new insights in epidemiology, pathophysiology, diagnosis, measurements, genetics, outcomes, presentations, new imaging modalities, target and other organ systems, pregnancy, evaluation, and management. An international group of experts reviewed these advances in knowledge and provided evidence-based recommendations and guidelines for the evaluation and management of PHPT.
JOURNAL OF BONE AND MINERAL RESEARCH
(2022)
Review
Endocrinology & Metabolism
Fadil M. Hannan, Taha Elajnaf, Laura N. Vandenberg, Stephen H. Kennedy, Rajesh V. Thakker
Summary: Lactation is crucial for the health of both infants and mothers, and is regulated by reproductive and metabolic hormones. The development of mammary glands and synthesis of milk are closely related to hormonal functions, which are stimulated by infant suckling. After weaning, there is a large-scale cell loss in the glands leading to involution. The hormonal composition of human milk also has effects on infant health and development. Additionally, endocrine and metabolic diseases, labor interventions, and exposure to endocrine-disrupting chemicals can cause lactation insufficiency.
NATURE REVIEWS ENDOCRINOLOGY
(2022)
Review
Endocrinology & Metabolism
Salvatore Minisola, Seiji Fukumoto, Weibo Xia, Alessandro Corsi, Luciano Colangelo, Alfredo Scillitani, Jessica Pepe, Cristiana Cipriani, Rajesh Thakker
Summary: Tumor-induced osteomalacia is a rare paraneoplastic syndrome characterized by bone softening and various symptoms. It is often underdiagnosed due to nonspecific symptoms. Biochemical features include hypophosphatemia, abnormal FGF23 levels, and abnormal vitamin D levels. The underlying tumors are usually phosphaturic mesenchymal tumors.
Editorial Material
Endocrinology & Metabolism
Rajesh V. Thakker
JOURNAL OF BONE AND MINERAL RESEARCH
(2023)
Article
Endocrinology & Metabolism
Caroline M. Gorvin, Paul J. Newey, Rajesh Thakker
Summary: By evaluating more than 300 uncharacterized variants, researchers found that 5 rare PRLR gene variants were associated with altered signaling pathways, including STAT5 signaling, Akt and FOXO1 activity, cell viability, and apoptosis. These findings provide further understanding of PRLR structure-function and suggest that rare PRLR gene variants may have diverse modulating effects on PRLR signaling, although the pathophysiological relevance of such alterations remains to be defined.
JOURNAL OF MOLECULAR ENDOCRINOLOGY
(2023)
Review
Endocrinology & Metabolism
Katherine A. English, Kate E. Lines, Rajesh V. Thakker
Summary: Primary hyperparathyroidism (PHPT) can occur as part of a hereditary syndromic disorder or as a non-syndromic disease. Recognition of the hereditary forms is important for implementing screening protocols and investigating associated tumors. Most patients with syndromic PHPT require parathyroidectomy to limit end-organ damage. Non-syndromic PHPT may be associated with MEN1 gene or CASR mutations.
HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM
(2023)
Article
Endocrinology & Metabolism
Mark Stevenson, Alistair T. Pagnamenta, Heather G. Mack, Judith Savige, Edoardo Giacopuzzi, Kate E. Lines, Jenny C. Taylor, Rajesh Thakker
Summary: Bartter syndrome and Gitelman syndrome are renal tubular disorders that affect the reabsorption of sodium, potassium, and chloride ions. This study reports a case of GS and establishes a diagnosis of BS type-3 through whole-genome sequencing analysis. The results demonstrate the utility of whole-genome sequencing in diagnosing renal tubular disorders with overlapping phenotypes.
JOURNAL OF THE ENDOCRINE SOCIETY
(2022)
Article
Endocrinology & Metabolism
Marianne S. Elston, Taha Elajnaf, Fadil M. Hannan, Rajesh Thakker
Summary: This study reports a case of ADH1 patient with intracerebral calcifications who also experienced recurrent hypocalcemic and hypercalcemic episodes and myoclonic jerks. Treatment with medication relieved the myoclonus symptoms. Mutational analysis identified a reported CaSR gene mutation in the patient.
JOURNAL OF THE ENDOCRINE SOCIETY
(2022)