Article
Endocrinology & Metabolism
Malgorzata Trofimiuk-Muldner, Bartosz Domagala, Grzegorz Sokolowski, Anna Skalniak, Alicja Hubalewska-Dydejczyk
Summary: This study examined the frequency and characteristics of AIP gene mutations in Polish patients with apparently sporadic pituitary macroadenomas. The results showed that 5 out of 131 patients carried AIP gene mutations. However, patients with AIP gene mutations did not differ significantly from other patients in terms of age at diagnosis, tumor diameter, gender distribution, and tumor secretion frequency.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
David M. Carty, Rachael Harte, Russell S. Drummond, Rebecca Ward, Kesson Magid, David Collier, Martina Owens, Marta Korbonits
Summary: Pathogenic variants in the AIP gene are increasingly recognized as a cause of familial isolated pituitary adenoma, with most cases involving excess growth hormone production. Some AIP mutation positive families also have cases of prolactinoma, indicating the need for AIP screening in these cases.
Article
Endocrinology & Metabolism
L. M. Gaspar, C. I. Goncalves, C. Saraiva, L. Cortez, C. Amaral, E. Nobre, M. C. Lemos
Summary: This study aimed to determine the frequency of AIP germline mutations in patients with young-onset sporadic pituitary macroadenomas. Heterozygous rare sequence variants in AIP were identified in 8.3% of the patients, but only 1.8% had pathogenic or likely pathogenic variants. Four novel AIP mutations were identified in patients with GH-secreting adenomas diagnosed at a young age.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2023)
Article
Endocrinology & Metabolism
I Mazarico-Altisent, I Capel, N. Baena, M. R. Bella-Cueto, S. Barcons, X. Guirao, L. Albert, A. Cano, R. Pareja, A. Caixas, M. Rigla
Summary: New germline mutations in CDKIs have been identified in patients with primary hyperparathyroidism (PHPT), highlighting the importance of including CDKIs in genetic testing for PHPT.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2023)
Article
Oncology
Reut Halperin, Liat Arnon, Sapir Nasirov, Limor Friedensohn, Michal Gershinsky, Alona Telerman, Eitan Friedman, Rinat Bernstein-Molho, Amit Tirosh
Summary: Multiple endocrine neoplasia 4 (MEN4) is a rare multiglandular endocrine neoplasia syndrome characterized by primary hyperparathyroidism (PHPT), pituitary adenoma (PitAd), and neuroendocrine tumors (NET). The underlying mutated gene CDKN1B is associated with cell-cycle regulation. A study was conducted to assess the genotype-phenotype correlations in MEN4, and 74 cases were analyzed. The findings revealed lower risk and older age at diagnosis for PHPT in MEN4 compared to MEN1, as well as recurrent CDKN1B frameshift variants.
ENDOCRINE-RELATED CANCER
(2023)
Review
Endocrinology & Metabolism
Elisabetta Lavezzi, Alessandro Brunetti, Valeria Smiroldo, Gennaro Nappo, Vittorio Pedicini, Eleonora Vitali, Giampaolo Trivellin, Gherardo Mazziotti, Andrea Lania
Summary: This article presents two cases of MEN4 and provides some indications for the management of these patients through a review of the current literature. According to the literature, hyperparathyroidism is the most common clinical feature of MEN4, followed by pituitary adenoma and neuroendocrine tumors. However, MEN4 appears to be a variant of MEN with milder clinical features and later onset.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Sarah Vincze, Nicholas Peters, Chia-Ling Kuo, Taylor C. Brown, Reju Korah, Timothy D. Murtha, Justin Bellizzi, Aaliyah Riccardi, Kourosh Parham, Tobias Carling, Jessica Costa-Guda, Andrew Arnold
Summary: GCM2 variants are found in a significant number of patients with primary hyperparathyroidism, but their penetrance is very low, indicating a low risk of developing the disease for individuals carrying these variants. Further research is needed to assess the clinical importance of detecting these GCM2 variants.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Endocrinology & Metabolism
Amanda Seabrook, Ayanthi Wijewardene, Sunita De Sousa, Tang Wong, Nisa Sheriff, Anthony J. Gill, Rakesh Iyer, Michael Field, Catherine Luxford, Roderick Clifton-Bligh, Ann McCormack, Katherine Tucker
Summary: Germline CDKN1B pathogenic variants cause MEN4 syndrome, and the study of these cases reveals the heterogeneity of this syndrome, ranging from isolated primary hyperparathyroidism to comprehensive endocrine manifestations.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Genetics & Heredity
Keiko Taniguchi-Ponciano, Lesly A. Portocarrero-Ortiz, Gerardo Guinto, Sergio Moreno-Jimenez, Erick Gomez-Apo, Laura Chavez-Macias, Eduardo Pena-Martinez, Gloria Silva-Roman, Sandra Vela-Patino, Jesus Ordonez-Garcia, Sergio Andonegui-Elguera, Aldo Ferreira-Hermosillo, Claudia Ramirez-Renteria, Etual Espinosa-Cardenas, Ernesto Sosa, Ana Laura Espinosa-de-los-Monteros, Latife Salame-Khouri, Carolina Perez, Blas Lopez-Felix, Guadalupe Vargas-Ortega, Baldomero Gonzalez-Virla, Marcos Lisbona-Buzali, Daniel Marrero-Rodriguez, Moises Mercado
Summary: The kinome of PA clusters these lesions into three distinct groups according to the transcription factor that drives their terminal differentiation. And these complexes could be harnessed as molecular therapy targets.
BMC MEDICAL GENOMICS
(2022)
Article
Endocrinology & Metabolism
M. Detomas, B. Altieri, J. Flitsch, W. Saeger, M. Korbonits, T. Deutschbein
Summary: This study reports a novel AIP mutation in a German family with acromegaly. It highlights the distinct clinical and histological features of AIP mutated pituitary neuroendocrine tumors and the poor responsiveness to dopamine agonists. Additionally, it emphasizes the increased mortality risk of comorbidities associated with acromegaly.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2023)
Article
Medicine, General & Internal
Petros Stefanidis, Georgios Kyriakopoulos, Andreas Miltiadis Seretis, Stefanos Korfias, Stamatios Theocharis, Anna Angelousi
Summary: This study evaluated the expression of Ki-67, CD-56, Cyclin-D1, and E-Cadherin in pituitary adenomas (PAs) and their association with clinical manifestation, tumor size, invasiveness, and risk of recurrence. Cyclin-D1 and Ki-67 were found to be positively correlated with tumor size, recurrence, extension beyond the sellar region, and invasion of the cavernous sinus. However, there was no correlation between CD-56 and E-Cadherin expression and the parameters mentioned above. Cyclin-D1 and Ki-67 may be promising markers in predicting the behavior and recurrence of PAs, but further studies are needed to confirm their role in routine evaluation of PAs.
Article
Genetics & Heredity
Yunqi He, Mu Yang, Rulian Zhao, Li Peng, Erkuan Dai, Lulin Huang, Peiquan Zhao, Shujin Li, Zhenglin Yang
Summary: This study identified novel pathogenic variants in the CTNNB1 gene and expanded the understanding of the pathogenesis of CTNNB1-associated FEVR. Through experiments and animal models, they found that CTNNB1 depletion leads to decreased activity of the Norrin/β-catenin signaling pathway, resulting in FEVR-related phenotypes.
JOURNAL OF MEDICAL GENETICS
(2023)
Review
Medicine, General & Internal
Anna Boguslawska, Marta Korbonits
Summary: GH-secreting pituitary tumors are highly genetically determined, with both germline and somatic mutations. Mutations can occur in known genes such as AIP, PRKAR1A, GPR101, GNAS, and others. Identifying genetic mutations can help in screening associated comorbidities and finding affected family members before clinical manifestation of the disease.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Endocrinology & Metabolism
Amanda J. Seabrook, Jessica E. Harris, Sofia B. Velosa, Edward Kim, Aideen M. McInerney-Leo, Trisha Dwight, Jason Hockings, Nicholas G. Hockings, Judy Kirk, Paul J. Leo, Amanda J. Love, Catherine Luxford, Mhairi Marshall, Ozgur Mete, David J. Pennisi, Matthew A. Brown, Anthony J. Gill, Gregory Hockings, Roderick J. Clifton-Bligh, Emma L. Duncan
Summary: Pathogenic germline MAX variants are associated with multiple tumors including pheochromocytoma, ganglioneuroma, neuroblastoma, and pituitary neuroendocrine tumors. Clinical, genetic, immunohistochemical, and functional studies on affected families confirmed the associations. Immunohistochemistry and functional studies provided additional evidence for the roles of MAX variants in tumor development.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Cardiac & Cardiovascular Systems
Xiaoli Chen, Jianfei Xu, Wenzhen Bao, Hongda Li, Wenrun Wu, Jiwen Liu, Jingjiang Pi, Brian Tomlinson, Paul Chan, Chengchao Ruan, Qi Zhang, Lin Zhang, Huimin Fan, Edward Morrisey, Zhongmin Liu, Yuzhen Zhang, Li Lin, Jie Liu, Tao Zhuang
Summary: This study investigates the role and mechanism of endothelial cell-specific Foxp1 in neointimal hyperplasia. The results show that Foxp1 deletion in endothelial cells promotes neointimal formation by increasing vascular smooth muscle cell proliferation and migration and reducing endothelial cell proliferation and reendothelialization. On the other hand, Foxp1 overexpression inhibits neointimal formation. It is also found that Foxp1 regulates matrix metalloproteinase-9/cyclin dependent kinase inhibitor 1B signaling pathway to control injury-induced neointimal formation. These findings suggest that targeting EC-Foxp1-matrix metalloproteinase-9/cyclin dependent kinase inhibitor 1B pathway could be a potential therapeutic intervention for restenosis.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2022)
Editorial Material
Gastroenterology & Hepatology
Ilaria Marinoni
Letter
Endocrinology & Metabolism
Frederic Castinetti, Vincent Amodru, Thierry Brue
Summary: This short manuscript reports three cases of atypical adrenal insufficiency with osilodrostat, which is highly effective in blocking cortisol secretion but also carries the risk of adrenal insufficiency.
CLINICAL ENDOCRINOLOGY
(2023)
Article
Genetics & Heredity
Laurene Ben Aim, Eamonn R. Maher, Alberto Cascon, Anne Barlier, Sophie Giraud, Tonino Ercolino, Pascal Pigny, Roderick J. Clifton-Bligh, Delphine Mirebeau-Prunier, Amira Mohamed, Judith Favier, Anne-Paule Gimenez-Roqueplo, Francesca Schiavi, Rodrigo A. Toledo, Patricia L. Dahia, Mercedes Robledo, Jean Pierre Bayley, Nelly Burnichon
Summary: The international effort led to the classification of 223 SDHB variants into 23 benign/likely benign, 149 pathogenic/likely pathogenic, and 51 variants of unknown significance. The accurate classification of SDHB genetic variants will assist geneticists in diagnosing hereditary PPGL and improving clinical care for patients and their relatives.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Genetics & Heredity
Martin Franke, Adrian F. Daly, Leonor Palmeira, Amit Tirosh, Antonio Stigliano, Eszter Trifan, Fabio R. Faucz, Dayana Abboud, Patrick Petrossians, Juan J. Tena, Eleonora Vitali, Andrea G. Lania, Jose L. Gomez-Skarmeta, Albert Beckers, Constantine A. Stratakis, Giampaolo Trivellin
Summary: X-linked acrogigantism (X-LAG) is a TADopathy of the endocrine system, in which Xq26.3 duplications disrupt the local chromatin architecture, causing aberrant expression of GPR101 in pituitary tumors.
AMERICAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Endocrinology & Metabolism
Jean d'Artigues, Thomas Graillon, Sebastien Boissonneau, Kaissar Farah, Vincent Amodru, Thierry Brue, Stephane Fuentes, Henry Dufour
Summary: This study retrospectively reported 17 cases of SAC surgery in Timone University Hospital, Marseille, France. The surgical procedure was homogeneous and consisted in endonasal fully endoscopic surgical obliteration. The technique provided improvement for a high percentage of patients, but with a high complication rate.
Review
Clinical Neurology
Andrea Romigi, Tiziana Feola, Simone Cappellano, Michelangelo De Angelis, Giacomo Pio, Marco Caccamo, Federica Testa, Giuseppe Vitrani, Diego Centonze, Claudio Colonnese, Vincenzo Esposito, Marie-Lise Jaffrain-Rea
Summary: Sleep disorders in patients with craniopharyngioma are often underestimated and undertreated, with a major risk factor being hypothalamic syndrome caused by tumor and treatment-related complications. Proper screening and diagnostic tools, along with optimal management strategies, are crucial for improving quality of life and reducing long-term mortality in these patients. Further research and attention on sleep evaluation and treatment in this specific population are needed to address the current limitations.
FRONTIERS IN NEUROLOGY
(2022)
Review
Medicine, General & Internal
Nicolas Sahakian, Frederic Castinetti, Thierry Brue, Thomas Cuny
Summary: This article reviews the current medical therapies used in the field of pituitary tumors, discusses the advantages and limitations of each treatment method, and specifies their positioning in the treatment algorithm for each phenotype. Furthermore, it provides insight into the future of medical therapies for pituitary tumors based on recent studies.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Oncology
Thomas Cuny, Peter M. van Koetsveld, Gregoire Mondielli, Fadime Dogan, Wouter W. de Herder, Anne Barlier, Leo J. Hofland
Summary: The treatment of pancreatic neuroendocrine neoplasms (PNEN) is challenging due to metastasis at diagnosis and resistance to treatment in some patients. This study explores the role of stromal fibroblasts in the growth of PNEN and their response to the mTOR inhibitor everolimus. The findings suggest that fibroblasts in the tumor microenvironment of PNEN could be a promising therapeutic target.
Article
Endocrinology & Metabolism
T. Feola, R. Sa Pirchio, G. Puliani, R. Pofi, M. Crocco, V Sada, F. Sesti, F. Verdecchia, D. Gianfrilli, M. Appetecchia, N. Di Iorgi, M. L. Jaffrain-Rea, R. Pivonello, A. M. Isidori, A. B. Grossman, E. Sbardella
Summary: This study investigated the epidemiology, clinical manifestations, management, and treatment outcomes of sellar/parasellar lesions during the transition age. The results showed that managing these lesions in adolescents requires an integrated and multidisciplinary approach. Hormone and metabolic disorders may occur many years after treatment, highlighting the importance of long-term follow-up.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2023)
Review
Oncology
Tiziana Feola, Francesca Carbonara, Monica Verrico, Rosa Maria Di Crescenzo, Francesca Gianno, Claudio Colonnese, Antonietta Arcella, Dario de Alcubierre, Silverio Tomao, Vincenzo Esposito, Felice Giangaspero, Giuseppe Minniti, Marie-Lise Jaffrain-Rea
Summary: This study reviewed the effects of ICIs on aggressive/metastatic PitNETs and found that about half of TMZ-resistant PitNETs showed significant benefits from ICIs, with high PDL1 expression associated with remarkable responses but potentially not essential.
Article
Genetics & Heredity
Qizong Lao, Kiet Zhou, Megan Parker, Fabio R. Faucz, Deborah P. Merke
Summary: CAH-X is a connective tissue dysplasia caused by the contiguous deletion of CYP21A2 and TNXB genes, affecting approximately 15% of patients with 21-hydroxylase deficiency. The most common genetic causes of CAH-X are CYP21A1P-TNXA/TNXB chimeras with pseudogene TNXA substitution for TNXB exons 35-44 (CAH-X CH-1) and TNXB exons 40-44 (CAH-X CH-2). This study found that 10.3% of the subjects (48/467) had at least one copy of a TNXA variant allele carrying a TNXB exon 40 sequence, which could potentially interfere with molecular genetic testing for CAH-X.
Article
Medicine, General & Internal
Iulia Potorac, Marie Laterre, Olivier Malaise, Vlad Nechifor, Corinne Fasquelle, Orphal Colleye, Nancy Detrembleur, Hannah Verdin, Sofie Symoens, Elfride De Baere, Adrian F. Daly, Vincent Bours, Patrick Petrossians, Axelle Pintiaux
Summary: Infertility is a common problem in couples, with both female and male factors playing a similar role. Rare congenital disorders can affect both female and male gametogenesis. Mutations in the MCM9 gene have been found to cause premature ovarian insufficiency in females and are also associated with an increased risk of cancer.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Cell Biology
Rajakumar Anbazhagan, Raghuveer Kavarthapu, Ryan Dale, Kiersten Campbell, Fabio R. Faucz, Maria L. Dufau
Summary: GRTH/DDX25 is a testis-specific RNA helicase that plays a crucial role in spermatogenesis and male fertility. By analyzing mRNA-seq and miRNA-seq data, we identified several miRNAs, including miR146, miR122a, miR26a, miR27a, miR150, miR196a, and miR328, that are associated with spermatogenesis. These miRNAs target genes involved in various processes such as ubiquitination, chromatin remodeling, reversible protein phosphorylation, and acrosome stability. Our findings suggest that the post-transcriptional and translational regulation of germ-cell-specific mRNAs by miRNAs is important for spermatogenesis.
Meeting Abstract
Endocrinology & Metabolism
Aleksandra Antosz, Kamila Szeliga, Karolia Skrzynska, Agnieszka Pietrusik, Zofia Kolesinska, Adrian F. Daly, Albert Beckers, Aneta Gawlik
HORMONE RESEARCH IN PAEDIATRICS
(2023)
Meeting Abstract
Endocrinology & Metabolism
Claudia Hernandez, Magdalena Rodriguez Saa, Ivana Fernandez, Silvina Figurelli, Adrian Daly, Mirta Guitelman
HORMONE RESEARCH IN PAEDIATRICS
(2022)