ArticleThe Journal of clinical endocrinology and metabolism2021
Corticotroph Aggressive Pituitary Tumors and Carcinomas Frequently Harbor ATRX Mutations.
Article in The Journal of clinical endocrinology and metabolism, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 2 of them syntheses that pooled it.
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Who cites it
49 citing papers in PubMed, 2 syntheses or guidelines pooled it, 92 citations in OpenAlex.
- Pooled it
- Metastatic pituitary tumors: an institutional case series.Pituitary · 2023Pooled it
- Corticotroph Tumour Progression 37 Years After Bilateral Adrenalectomy with Temozolomide-Naive Response to Pembrolizumab.Endocrine oncology (Bristol, England) · 2026Article
- Genomic characterization of aggressiveness in pituitary neuroendocrine tumors.Neuro-oncology · 2026Article
- Therapy for aggressive pituitary tumors and carcinomas.Reviews in endocrine & metabolic disorders · 2026Review
- Role of Surgery in the Multimodal Treatment of Pituitary Carcinoma: A Retrospective Single-Institution Case Series.Cancers · 2026Article
- Ageing and pituitary neuroendocrine tumours (PitNETs): from bench to bedside.Endocrine-related cancer · 2026Review
- Molecular biology of pituitary neuroendocrine tumors.Journal of neuro-oncology · 2026Review
- Preoperatively Predicting PIT1 Expression in Pituitary Adenomas Using Habitat, Intra-tumoral and Peri-tumoral Radiomics Based on MRI.Journal of imaging informatics in medicine · 2025Article
- The PitNET Puzzle: From Zero to Linking Molecular Behavior with Neurosurgical Aspects.Medicina (Kaunas, Lithuania) · 2025Review
- USP8, USP48, BRAF and TP53 mutations in crooke cell adenoma.Pituitary · 2025Article
- Management of Cushing's disease in the initial phase~From detection to surgery~.Endocrine journal · 2025Review
- Non-recurrent mutations and copy number changes predominate pituitary adenoma genomes.European journal of endocrinology · 2025Article
- Clinical Implications of Molecular and Genetic Biomarkers in Cushing's Disease: A Literature Review.Journal of clinical medicine · 2025Review
- A Brief Overview of Molecular Biology in Pituitary Adenomas with a Focus on Aggressive Lesions.International journal of molecular sciences · 2025Review
- Grading and staging for pituitary neuroendocrine tumors.Brain pathology (Zurich, Switzerland) · 2025Review
- The 2022 WHO classification of tumors of the pituitary gland: An update on aggressive and metastatic pituitary neuroendocrine tumors.Brain pathology (Zurich, Switzerland) · 2025Review
- Genome-wide methylation profiling differentiates benign from aggressive and metastatic pituitary neuroendocrine tumors.Acta neuropathologica · 2024Article
- Longitudinal multiomics analysis of aggressive pituitary neuroendocrine tumors: comparing primary and recurrent tumors from the same patient, reveals genomic stability and heterogeneous transcriptomic profiles with alterations in metabolic pathways.Acta neuropathologica communications · 2024Article
- Loss of ATRX Protein Expression in an Aggressive Null Cell Pituitary Tumor.JCEM case reports · 2024Article
Corrections and comments
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Authors and funding
29 authors at 20 institutions in 13 countries.
Funding
Abstract
contextAggressive pituitary tumors (APTs) are characterized by unusually rapid growth and lack of response to standard treatment. About 1% to 2% develop metastases being classified as pituitary carcinomas (PCs). For unknown reasons, the corticotroph tumors are overrepresented among APTs and PCs. Mutations in the alpha thalassemia/mental retardation syndrome X-linked (ATRX) gene, regulating chromatin remodeling and telomere maintenance, have been implicated in the development of several cancer types, including neuroendocrine tumors.
objectiveTo study ATRX protein expression and mutational status of the ATRX gene in APTs and PCs.
designWe investigated ATRX protein expression by using immunohistochemistry in 30 APTs and 18 PCs, mostly of Pit-1 and T-Pit cell lineage. In tumors lacking ATRX immunolabeling, mutational status of the ATRX gene was explored.
resultsNine of the 48 tumors (19%) demonstrated lack of ATRX immunolabelling with a higher proportion in patients with PCs (5/18; 28%) than in those with APTs (4/30;13%). Lack of ATRX was most common in the corticotroph tumors, 7/22 (32%), versus tumors of the Pit-1 lineage, 2/24 (8%). Loss-of-function ATRX mutations were found in all 9 ATRX immunonegative cases: nonsense mutations (n = 4), frameshift deletions (n = 4), and large deletions affecting 22-28 of the 36 exons (n = 3). More than 1 ATRX gene defect was identified in 2 PCs.
conclusionATRX mutations occur in a subset of APTs and are more common in corticotroph tumors. The findings provide a rationale for performing ATRX immunohistochemistry to identify patients at risk of developing aggressive and potentially metastatic pituitary tumors.
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