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THU085 Can Genetic Mutations And Molecular Markers Predict Recurrence In Adamantinomatous Or Papillary Craniopharyngiomas? A Systemic Review.

Disclosure: M. Nicholas: None. U. Mahfuza: None. A. De Ieva: None. M. Rodriguez: None. V.A. Preda: None. Craniopharyngiomas are rare, but clinically significant intracranial tumors. According to the WHO criteria, two clinicopathological subtypes, adamantinomatous (aCP) and papillary (pCP) (WHO 2021)...

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Autores principales: Nicholas, Michael, Mahfuza, Ummul, De Ieva, Antonio, Rodriguez, Michael, Preda, Veronica Angela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10554007/
http://dx.doi.org/10.1210/jendso/bvad114.1165
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author Nicholas, Michael
Mahfuza, Ummul
De Ieva, Antonio
Rodriguez, Michael
Preda, Veronica Angela
author_facet Nicholas, Michael
Mahfuza, Ummul
De Ieva, Antonio
Rodriguez, Michael
Preda, Veronica Angela
author_sort Nicholas, Michael
collection PubMed
description Disclosure: M. Nicholas: None. U. Mahfuza: None. A. De Ieva: None. M. Rodriguez: None. V.A. Preda: None. Craniopharyngiomas are rare, but clinically significant intracranial tumors. According to the WHO criteria, two clinicopathological subtypes, adamantinomatous (aCP) and papillary (pCP) (WHO 2021) are distinct entities([1]). They may have a poor prognosis due to their high recurrence rate and anatomical location. The association between surgical procedures and recurrence is well reported, however, a definitive predictive factor for recurrence based on tumor molecular markers has yet to be elucidated. The genetic mutations BRAF V600E and CTNNB1 are mutually exclusive to aCP and pCP respectively and their presence has been well documented (WHO). The expression of molecular markers ki67, p53, VEGF, PD-L1, pATM, RARγ, RARβ, CD166, CD133, E-Cadherins, FABP5, CRAPBII, Vimentins, CXCL12, CXCR4, MCM6 and DNA Topo II alpha have also all been found in populations of craniopharyngiomas, but the level of their expression and proliferation indices have not previously been clearly summarized in the literature as markers of recurrence. Aim: To perform a systematic review of the common genetic and molecular markers found in either adamantinomatous or papillary craniopharyngiomas and assessment of their impact on recurrence rate. Methods: MEDLINE, Embase, PubMed, Cochrane Library and Scopus electronic were searched in December 2022 using a search string with key words “craniopharyngioma”, “adamantinomatous”, “papillary”, “genetic mutation”, “molecular markers” and “recurrence”. The initial search resulted in 1105 studies. These studies were assessed against inclusion and exclusion criteria. Results: The final review included 26 studies that included 905 patients. Ki67, p53, PD-L1, CXCL12, CXCR4, RARγ FABP5, CRABPII, MCM6 and DNA Topo II alpha molecular markers and CTNNB1 and PTTG-1 gene mutations were found to have an association with an increase in recurrence of adamantinomatous craniopharyngiomas, while VEGF, TERTp, pATM, RARβ, CD166, CD133, E-Cadherins and Vimentins were not. Ki67, p53, PD-L1, FABP5, CRABPII, MCM6 and DNA Topo II alpha molecular markers and BRAF and PTTG-1 gene mutations were found to have an association with an increase in recurrence of papillary craniopharyngiomas, while TERTp, pATM were not. The association of other molecular markers and tumour recurrence, despite large scale studies, gave conflicting results. Conclusion: Our systematic review demonstrates that a multitude of molecular markers and genetic mutations are markers of recurrence or worsening clinicopathology. The identification of genetic mutations and expression of molecular markers and their role in the likelihood of recurrence in either adamantinomatous or papillary craniopharyngiomas provides insight into the potential for novel targets in future therapies. References: 1. Louis, D. N. (Ed.). (2021). WHO classification of tumours of the central nervous system WHO CNS5. WHO. Presentation: Thursday, June 15, 2023
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spelling pubmed-105540072023-10-06 THU085 Can Genetic Mutations And Molecular Markers Predict Recurrence In Adamantinomatous Or Papillary Craniopharyngiomas? A Systemic Review. Nicholas, Michael Mahfuza, Ummul De Ieva, Antonio Rodriguez, Michael Preda, Veronica Angela J Endocr Soc Neuroendocrinology & Pituitary Disclosure: M. Nicholas: None. U. Mahfuza: None. A. De Ieva: None. M. Rodriguez: None. V.A. Preda: None. Craniopharyngiomas are rare, but clinically significant intracranial tumors. According to the WHO criteria, two clinicopathological subtypes, adamantinomatous (aCP) and papillary (pCP) (WHO 2021) are distinct entities([1]). They may have a poor prognosis due to their high recurrence rate and anatomical location. The association between surgical procedures and recurrence is well reported, however, a definitive predictive factor for recurrence based on tumor molecular markers has yet to be elucidated. The genetic mutations BRAF V600E and CTNNB1 are mutually exclusive to aCP and pCP respectively and their presence has been well documented (WHO). The expression of molecular markers ki67, p53, VEGF, PD-L1, pATM, RARγ, RARβ, CD166, CD133, E-Cadherins, FABP5, CRAPBII, Vimentins, CXCL12, CXCR4, MCM6 and DNA Topo II alpha have also all been found in populations of craniopharyngiomas, but the level of their expression and proliferation indices have not previously been clearly summarized in the literature as markers of recurrence. Aim: To perform a systematic review of the common genetic and molecular markers found in either adamantinomatous or papillary craniopharyngiomas and assessment of their impact on recurrence rate. Methods: MEDLINE, Embase, PubMed, Cochrane Library and Scopus electronic were searched in December 2022 using a search string with key words “craniopharyngioma”, “adamantinomatous”, “papillary”, “genetic mutation”, “molecular markers” and “recurrence”. The initial search resulted in 1105 studies. These studies were assessed against inclusion and exclusion criteria. Results: The final review included 26 studies that included 905 patients. Ki67, p53, PD-L1, CXCL12, CXCR4, RARγ FABP5, CRABPII, MCM6 and DNA Topo II alpha molecular markers and CTNNB1 and PTTG-1 gene mutations were found to have an association with an increase in recurrence of adamantinomatous craniopharyngiomas, while VEGF, TERTp, pATM, RARβ, CD166, CD133, E-Cadherins and Vimentins were not. Ki67, p53, PD-L1, FABP5, CRABPII, MCM6 and DNA Topo II alpha molecular markers and BRAF and PTTG-1 gene mutations were found to have an association with an increase in recurrence of papillary craniopharyngiomas, while TERTp, pATM were not. The association of other molecular markers and tumour recurrence, despite large scale studies, gave conflicting results. Conclusion: Our systematic review demonstrates that a multitude of molecular markers and genetic mutations are markers of recurrence or worsening clinicopathology. The identification of genetic mutations and expression of molecular markers and their role in the likelihood of recurrence in either adamantinomatous or papillary craniopharyngiomas provides insight into the potential for novel targets in future therapies. References: 1. Louis, D. N. (Ed.). (2021). WHO classification of tumours of the central nervous system WHO CNS5. WHO. Presentation: Thursday, June 15, 2023 Oxford University Press 2023-10-05 /pmc/articles/PMC10554007/ http://dx.doi.org/10.1210/jendso/bvad114.1165 Text en © The Author(s) 2023. Published by Oxford University Press on behalf of the Endocrine Society. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs licence (https://creativecommons.org/licenses/by-nc-nd/4.0/), which permits non-commercial reproduction and distribution of the work, in any medium, provided the original work is not altered or transformed in any way, and that the work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Neuroendocrinology & Pituitary
Nicholas, Michael
Mahfuza, Ummul
De Ieva, Antonio
Rodriguez, Michael
Preda, Veronica Angela
THU085 Can Genetic Mutations And Molecular Markers Predict Recurrence In Adamantinomatous Or Papillary Craniopharyngiomas? A Systemic Review.
title THU085 Can Genetic Mutations And Molecular Markers Predict Recurrence In Adamantinomatous Or Papillary Craniopharyngiomas? A Systemic Review.
title_full THU085 Can Genetic Mutations And Molecular Markers Predict Recurrence In Adamantinomatous Or Papillary Craniopharyngiomas? A Systemic Review.
title_fullStr THU085 Can Genetic Mutations And Molecular Markers Predict Recurrence In Adamantinomatous Or Papillary Craniopharyngiomas? A Systemic Review.
title_full_unstemmed THU085 Can Genetic Mutations And Molecular Markers Predict Recurrence In Adamantinomatous Or Papillary Craniopharyngiomas? A Systemic Review.
title_short THU085 Can Genetic Mutations And Molecular Markers Predict Recurrence In Adamantinomatous Or Papillary Craniopharyngiomas? A Systemic Review.
title_sort thu085 can genetic mutations and molecular markers predict recurrence in adamantinomatous or papillary craniopharyngiomas? a systemic review.
topic Neuroendocrinology & Pituitary
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10554007/
http://dx.doi.org/10.1210/jendso/bvad114.1165
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