Evolving approaches to craniopharyngioma diagnosis.
Authors
Affiliations (9)
Affiliations (9)
- 1Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston.
- 8Department of Neurosurgery, Leiden University Medical Centre, Leiden, Zuid-Holland, The Netherlands; and.
- 6T. H. Chan School of Medicine, UMass Chan Medical School, Worcester, Massachusetts.
- 9Department of Neurosurgery, Huashan Hospital, Fudan University, Shanghai, China.
- 2Department of Radiology, Massachusetts General Hospital, Harvard Medical School, Boston.
- 3Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Boston.
- 7Department of Neurological Surgery, University of Miami Miller School of Medicine, Miami, Florida.
- 4Department of Neurosurgery, Boston Children's Hospital, Harvard Medical School, Boston.
- 5Divisions of Neuro-Oncology and Hematology/Oncology, Massachusetts General Hospital Cancer Center, Harvard Medical School, Boston.
Abstract
Despite their histologically benign classification, craniopharyngiomas (CPs) are clinically aggressive neoplasms that often present with local invasion and significant morbidity. While recent insights into the molecular characteristics of CP have prompted exciting advances in neoadjuvant targeted therapeutics, current diagnostic methods still require tissue samples obtained invasively through resection or surgical biopsy. However, novel diagnostic approaches, such as imaging-based diagnostics and liquid biopsies, are emerging options that support a noninvasive paradigm shift in CP management. This review summarizes current and emerging diagnostic approaches for CP and discusses the challenges and progress toward maximizing the potential of noninvasive CP management. The authors conducted a narrative review of peer-reviewed literature from the past 20 years. Key domains included CP; histopathological and molecular diagnostics; radiomics and AI; and liquid biopsy development. The current standard diagnostic method for CP is pathological tissue confirmation obtained through invasive surgical biopsy or resection. Radiomics and AI-based "imaging biopsy" approaches show strong potential for noninvasive CP differentiation. However, despite promising accuracy in retrospective studies, clinical translation remains limited due to small and heterogeneous datasets, nonstandardized imaging pipelines, limited interpretability, and lack of prospective multicenter validation. Liquid biopsy represents another emerging minimally invasive alternative. Although BRAF V600E has been detected in plasma and CSF in isolated reports, the evidence remains sparse, and current assays may lack the sensitivity required to reliably detect CP driver mutations. Further research and improvement of technical limitations are needed to advance this promising field of noninvasive diagnostics. Diagnostic innovation for CP is accelerating, with radiomics-based models and liquid biopsies offering promising alternatives to invasive tissue sampling. However, widespread clinical adoption has been hindered by a lack of high-quality validation. Multicenter studies, larger datasets, and harmonized protocols are essential to integrate these emerging tools into clinical practice and improve diagnostic management for CP. A future noninvasive treatment schema that combines advances in both diagnostic and therapeutic strategies is proposed for papillary CP.