ArticlePituitary2015
Targeted BRAF and CTNNB1 next-generation sequencing allows proper classification of nonadenomatous lesions of the sellar region in samples with limiting amounts of lesional cells.
Article in Pituitary, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 34 citations in OpenAlex.
- Apc-deficient pituitary stem cells drive adamantinomatous craniopharyngioma through senescence-associated inflammation.EMBO molecular medicine · 2026Article
- Papillary craniopharyngioma following an initial diagnosis of Rathke cleft cyst: a case report and narrative review.JCEM case reports · 2026Article
- Interrogation of the cellular hierarchies reveals neoplastic evolution and therapeutic vulnerability in craniopharyngioma.Neuro-oncology · 2026Article
- Transformation Versus Ascertainment Bias of a Suprasellar Lesion: A Histopathologic Conundrum of BRAF V600E Positive Papillary Craniopharyngioma Versus Rathke's Cleft Cyst with Squamous Metaplasia: A Systematic Review.Journal of neurological surgery reports · 2025Article
- The role of BRAF testing of Rathke's cleft cysts to identify missed papillary craniopharyngioma.Pituitary · 2025Article
- Xanthogranuloma of the Sellar Region: A Comprehensive Review of Neuroimaging in a Rare Inflammatory Entity.Journal of personalized medicine · 2022Review
- Role of endoscopic endonasal approach for craniopharyngiomas extending into the third ventricle in adults.Brain & spine · 2022Article
- Immunohistochemistry or Molecular Analysis: Which Method Is Better for Subtyping Craniopharyngioma?Endocrine pathology · 2021Article
- Molecular Diagnostic of Solid Tumor Using a Next Generation Sequencing Custom-Designed Multi-Gene Panel.Diagnostics (Basel, Switzerland) · 2020Article
- Adamantinomatous Craniopharyngioma in an Adult: A Case Report with NGS Analysis.International medical case reports journal · 2020Article
- The medical necessity of advanced molecular testing in the diagnosis and treatment of brain tumor patients.Neuro-oncology · 2019Review
- Noninvasive molecular diagnosis of craniopharyngioma with MRI-based radiomics approach.BMC neurology · 2019Article
- Papillary craniopharyngioma in a 4-year-old girl with BRAF V600E mutation: a case report and review of the literature.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2019Article
- Genetic and immune profiling for potential therapeutic targets in adult human craniopharyngioma.Clinical oncology and research · 2019Article
- Article
- Can tissue biomarkers reliably predict the biological behavior of craniopharyngiomas? A comprehensive overview.Pituitary · 2018Review
- Rathke's Cleft Cyst as Origin of a Pediatric Papillary Craniopharyngioma.Frontiers in genetics · 2018Article
- Distinct patterns of primary and motile cilia in Rathke's cleft cysts and craniopharyngioma subtypes.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2016Article
Corrections and comments
- Erratum issued
Authors and funding
10 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo assess the role of high sensitivity next-generation sequencing (NGS) of CTNNB1 for the diagnosis of adamantinomatous craniopharyngiomas (aCPs) and of BRAF for that of papillary CPs (pCPs) in routinely processed surgical samples of non-adenomatous sellar lesions.
methodsForty-five cases of patients operated for non-adenomatous masses of the sellar region between 2004 and 2014 were retrieved from the files of the Anatomic Pathology unit of the Bellaria Hospital in Bologna, Italy. BRAF and CTNNB1 mutation status was analyzed by NGS in samples smaller than 1 cm(3) and histological re-evaluation was performed on all cases.
resultsCTNNB1 mutation analysis showed a sensitivity of 86.7 % and a specificity of 96.2 % for the diagnosis of aCPs. The specificity increased to 100 % considering that in one case, initially classified as a non-CP lesion (xanthogranuloma), the identification of a CTNNB1 S47R lead to histological re-evaluation and reclassification of the lesion as aCP. BRAF mutation analysis had a sensitivity of 76.9 % and a specificity of 96.4 % for the diagnosis of pCPs. The specificity increased to 100 % considering that in one case, initially classified as a Rathke cyst, the identification of BRAF V600E lead to histological re-evaluation and reclassification of the lesion as pCP.
conclusionsThis study confirms the diagnostic relevance of the molecular alterations recently identified in aCPs and pCPs and shows how the identification of BRAF and CTNNB1 mutations can be instrumental for the proper classification of samples that contain limiting amounts of diagnostic lesional tissue.
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