Molecular pathology of adamantinomatous craniopharyngioma: review and opportunities for practice

Abstract

<jats:p>Since the first identification of <jats:italic>CTNNB1</jats:italic> mutations in adamantinomatous craniopharyngioma (ACP), much has been learned about the molecular pathways and processes that are disrupted in ACP pathogenesis. To date this understanding has not translated into tangible patient benefit.</jats:p> <jats:p>The recent development of novel techniques and a range of preclinical models now provides an opportunity to begin to support treatment decisions and develop new therapeutics based on molecular pathology.</jats:p> <jats:p>In this review the authors summarize many of the key findings and pathways implicated in ACP pathogenesis and discuss the challenges that need to be tackled to translate these basic science findings for the benefit of patients.</jats:p>

High‐resolution melting and immunohistochemical analysis efficiently detects mutually exclusive genetic alterations of adamantinomatous and papillary craniopharyngiomas

“…In this study, the CTNNB1 mutation was identified in 78.6% of the aCP cases, as analyzed by DNA‐based detection. The reported frequency of CTNNB1 mutations in aCP range from 63% to 100%, which is consistent with our results. Due to the relative inaccessibility of frozen tissues in the clinical setting, many of these previous studies analyzed DNA extracted from formalin‐fixed paraffin embedded (FFPE) tissues.…”

“…Recently, genetic analyses have revealed subtype‐specific genetic alterations in craniopharyngioma, which are consistent with clinicopathological differences between the two types . aCP is characterized by frequent β‐catenin gene ( CTNNB1 ) mutations.…”

“…Recently, genetic analyses have revealed subtypespecific genetic alterations in craniopharyngioma, which are consistent with clinicopathological differences between the two types. [4][5][6][7][8][9][10][11] aCP is characterized by frequent β-catenin gene (CTNNB1) mutations. CTNNB1 is an adherens junction protein and a downstream signaling molecule of the Wnt pathway.…”

Revived Attention for Adult Craniopharyngioma

“…With individually tailored tumor therapies evolving, the distinctive markers of CP present possible targets for innovative tumor directed therapies [2,32,34]. Today, the B-RAF mutation in papillary craniopharyngioma is the most promising target [34], which has already been evaluated for the use in malignant melanoma, colorectal cancer, non-Hodgkin lymphoma, NSCLC and malignant glioma [52].…”

Genetically engineered mouse models of craniopharyngioma: an opportunity for therapy development and understanding of tumor biology

“…This review summarizes the development and use of genetically engineered mouse models (GEMMs) in understanding the biology of craniopharyngioma and their potential use in developing future novel therapies. Specialized reviews covering clinical aspects, molecular pathology and the use of cell cultures and xenografts models are found in this special edition and elsewhere .…”