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ATRX Loss in the Development and Prognosis of Conjunctival Melanoma

Metastatic disease is linked to TERT promoter mutations in conjunctival melanomas (CM). Both TERT promoter and ATRX mutations are associated with faulty telomere maintenance. This study aimed to determine the prognostic value of ATRX loss in conjunctival melanocytic lesions. Eighty-six conjunctival...

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Autores principales: van Ipenburg, Jolique A., van den Bosch, Quincy C. C., Paridaens, Dion, Dubbink, Hendrikus J., Kiliç, Emine, Naus, Nicole, Verdijk, Robert M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454703/
https://www.ncbi.nlm.nih.gov/pubmed/37629169
http://dx.doi.org/10.3390/ijms241612988
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author van Ipenburg, Jolique A.
van den Bosch, Quincy C. C.
Paridaens, Dion
Dubbink, Hendrikus J.
Kiliç, Emine
Naus, Nicole
Verdijk, Robert M.
author_facet van Ipenburg, Jolique A.
van den Bosch, Quincy C. C.
Paridaens, Dion
Dubbink, Hendrikus J.
Kiliç, Emine
Naus, Nicole
Verdijk, Robert M.
author_sort van Ipenburg, Jolique A.
collection PubMed
description Metastatic disease is linked to TERT promoter mutations in conjunctival melanomas (CM). Both TERT promoter and ATRX mutations are associated with faulty telomere maintenance. This study aimed to determine the prognostic value of ATRX loss in conjunctival melanocytic lesions. Eighty-six conjunctival melanocytic lesions from the Rotterdam Ocular Melanoma Study group were collected. ATRX status and TERT promoter status were determined using immunohistochemical staining and molecular diagnostics, respectively. None of the nevi (n = 16) and primary acquired melanosis (PAM) without atypia (n = 6) showed ATRX loss. ATRX loss was found in 2/5 PAM with atypia without CM and in 8/59 CM. No cases with a TERT promoter mutation (n = 26) showed ATRX loss. Eight/eleven metastatic CM harbored a TERT promoter mutation, two other metastatic CM showed ATRX loss and one metastatic case showed no TERT promoter/ATRX alterations. In conclusion ATRX loss and TERT promoter mutations are only found in (pre)malignant conjunctival melanocytic lesions, with most metastatic cases harboring one of these alterations, suggesting that both alterations are associated with adverse behavior. Similar to TERT promoter mutations, ATRX loss may be used as a diagnostic tool in determining whether a conjunctival melanocytic lesion is prone to having an adverse course.
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spelling pubmed-104547032023-08-26 ATRX Loss in the Development and Prognosis of Conjunctival Melanoma van Ipenburg, Jolique A. van den Bosch, Quincy C. C. Paridaens, Dion Dubbink, Hendrikus J. Kiliç, Emine Naus, Nicole Verdijk, Robert M. Int J Mol Sci Article Metastatic disease is linked to TERT promoter mutations in conjunctival melanomas (CM). Both TERT promoter and ATRX mutations are associated with faulty telomere maintenance. This study aimed to determine the prognostic value of ATRX loss in conjunctival melanocytic lesions. Eighty-six conjunctival melanocytic lesions from the Rotterdam Ocular Melanoma Study group were collected. ATRX status and TERT promoter status were determined using immunohistochemical staining and molecular diagnostics, respectively. None of the nevi (n = 16) and primary acquired melanosis (PAM) without atypia (n = 6) showed ATRX loss. ATRX loss was found in 2/5 PAM with atypia without CM and in 8/59 CM. No cases with a TERT promoter mutation (n = 26) showed ATRX loss. Eight/eleven metastatic CM harbored a TERT promoter mutation, two other metastatic CM showed ATRX loss and one metastatic case showed no TERT promoter/ATRX alterations. In conclusion ATRX loss and TERT promoter mutations are only found in (pre)malignant conjunctival melanocytic lesions, with most metastatic cases harboring one of these alterations, suggesting that both alterations are associated with adverse behavior. Similar to TERT promoter mutations, ATRX loss may be used as a diagnostic tool in determining whether a conjunctival melanocytic lesion is prone to having an adverse course. MDPI 2023-08-20 /pmc/articles/PMC10454703/ /pubmed/37629169 http://dx.doi.org/10.3390/ijms241612988 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
van Ipenburg, Jolique A.
van den Bosch, Quincy C. C.
Paridaens, Dion
Dubbink, Hendrikus J.
Kiliç, Emine
Naus, Nicole
Verdijk, Robert M.
ATRX Loss in the Development and Prognosis of Conjunctival Melanoma
title ATRX Loss in the Development and Prognosis of Conjunctival Melanoma
title_full ATRX Loss in the Development and Prognosis of Conjunctival Melanoma
title_fullStr ATRX Loss in the Development and Prognosis of Conjunctival Melanoma
title_full_unstemmed ATRX Loss in the Development and Prognosis of Conjunctival Melanoma
title_short ATRX Loss in the Development and Prognosis of Conjunctival Melanoma
title_sort atrx loss in the development and prognosis of conjunctival melanoma
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454703/
https://www.ncbi.nlm.nih.gov/pubmed/37629169
http://dx.doi.org/10.3390/ijms241612988
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