Comparative Cytogenetic Abnormalities in Paired Choroidal Melanoma Samples Obtained Before and After Proton Beam Irradiation by Transscleral Fine-Needle Aspiration Biopsy and Endoresection
This study compared the cytogenetic profiles of choroidal melanoma samples retrieved before and after proton beam irradiation. Twenty-four consecutive patients who underwent both fine-needle aspiration biopsy (FNAB) during tantalum clip positioning, and endoresection within three months of irradiati...
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MDPI AG
2019-08-01
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author | Alexandre Matet Khadija Aït Raïs Denis Malaise Martina Angi Rémi Dendale Sarah Tick Livia Lumbroso-Le Rouic Christine Lévy-Gabriel Manuel Rodrigues Gaëlle Pierron Nathalie Cassoux |
author_facet | Alexandre Matet Khadija Aït Raïs Denis Malaise Martina Angi Rémi Dendale Sarah Tick Livia Lumbroso-Le Rouic Christine Lévy-Gabriel Manuel Rodrigues Gaëlle Pierron Nathalie Cassoux |
author_sort | Alexandre Matet |
collection | DOAJ |
description | This study compared the cytogenetic profiles of choroidal melanoma samples retrieved before and after proton beam irradiation. Twenty-four consecutive patients who underwent both fine-needle aspiration biopsy (FNAB) during tantalum clip positioning, and endoresection within three months of irradiation, were retrospectively included. Chromosome alterations were explored by array comparative genomic hybridization. Age at diagnosis was 50 ± 14 years, tumor thickness was 8.6 ± 1.7 mm and tumor diameter was 12.4 ± 2.3 mm. Six FNAB samples were non-contributive (25%), versus one endoresection sample (4%) (<i>p</i> = 0.049). Among 17 cases with paired contributive samples, the profiles of chromosomes 3 and 8 were identical in all cases, except one with partial chromosome 3 loss on the FNAB sample only. Three cases presented additional discordant aberrations on chromosomes other than 3 or 8q. Overall, we identified monosomy 3 in two cases, 8q gain in six cases, and both alterations in three cases. All cases presented <i>GNAQ</i> or <i>GNA11</i> mutations assessed by a custom next-generation sequencing panel. Among the six cases with non-contributive initial FNAB, three cases presented abnormal 3 or 8q chromosomes detected on the endoresection material. These results demonstrate the higher rentability of endoresection material for cytogenetic analysis compared to FNAB, and provide clinical evidence of tumor heterogeneity in choroidal melanoma. |
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spelling | doaj.art-3cc8fd7a5b6a4036bbfab9bb26018ba02023-09-02T02:24:08ZengMDPI AGCancers2072-66942019-08-01118117310.3390/cancers11081173cancers11081173Comparative Cytogenetic Abnormalities in Paired Choroidal Melanoma Samples Obtained Before and After Proton Beam Irradiation by Transscleral Fine-Needle Aspiration Biopsy and EndoresectionAlexandre Matet0Khadija Aït Raïs1Denis Malaise2Martina Angi3Rémi Dendale4Sarah Tick5Livia Lumbroso-Le Rouic6Christine Lévy-Gabriel7Manuel Rodrigues8Gaëlle Pierron9Nathalie Cassoux10Department of Ophthalmology, Institut Curie, Université Paris Descartes, Sorbonne Paris Cité, F-75005 Paris, FranceDepartment of Genetics, Somatic Genetic Unit, Institut Curie, PSL Research University, F-75005 Paris, FranceDepartment of Ophthalmology, Institut Curie, PSL Research University, F-75005 Paris, FranceDepartment of Ophthalmology, Institut Curie, PSL Research University, F-75005 Paris, FranceDepartment of Radiation Therapy, Institut Curie, PSL Research University, F-75005 Paris, FranceQuinze-Vingts Ophthalmology National Hospital, F-75012 Paris, FranceDepartment of Ophthalmology, Institut Curie, PSL Research University, F-75005 Paris, FranceDepartment of Ophthalmology, Institut Curie, PSL Research University, F-75005 Paris, FranceDepartment of Medical Oncology and INSERM U830, Institut Curie, PSL Research University, F-75005 Paris, FranceDepartment of Genetics, Somatic Genetic Unit, Institut Curie, PSL Research University, F-75005 Paris, FranceDepartment of Ophthalmology, Institut Curie, Université Paris Descartes, Sorbonne Paris Cité, F-75005 Paris, FranceThis study compared the cytogenetic profiles of choroidal melanoma samples retrieved before and after proton beam irradiation. Twenty-four consecutive patients who underwent both fine-needle aspiration biopsy (FNAB) during tantalum clip positioning, and endoresection within three months of irradiation, were retrospectively included. Chromosome alterations were explored by array comparative genomic hybridization. Age at diagnosis was 50 ± 14 years, tumor thickness was 8.6 ± 1.7 mm and tumor diameter was 12.4 ± 2.3 mm. Six FNAB samples were non-contributive (25%), versus one endoresection sample (4%) (<i>p</i> = 0.049). Among 17 cases with paired contributive samples, the profiles of chromosomes 3 and 8 were identical in all cases, except one with partial chromosome 3 loss on the FNAB sample only. Three cases presented additional discordant aberrations on chromosomes other than 3 or 8q. Overall, we identified monosomy 3 in two cases, 8q gain in six cases, and both alterations in three cases. All cases presented <i>GNAQ</i> or <i>GNA11</i> mutations assessed by a custom next-generation sequencing panel. Among the six cases with non-contributive initial FNAB, three cases presented abnormal 3 or 8q chromosomes detected on the endoresection material. These results demonstrate the higher rentability of endoresection material for cytogenetic analysis compared to FNAB, and provide clinical evidence of tumor heterogeneity in choroidal melanoma.https://www.mdpi.com/2072-6694/11/8/1173uveal melanomachoroidal melanomagenomicchromosomeproton beam therapyirradiationfine-needle aspiration biopsyendoresection |
spellingShingle | Alexandre Matet Khadija Aït Raïs Denis Malaise Martina Angi Rémi Dendale Sarah Tick Livia Lumbroso-Le Rouic Christine Lévy-Gabriel Manuel Rodrigues Gaëlle Pierron Nathalie Cassoux Comparative Cytogenetic Abnormalities in Paired Choroidal Melanoma Samples Obtained Before and After Proton Beam Irradiation by Transscleral Fine-Needle Aspiration Biopsy and Endoresection Cancers uveal melanoma choroidal melanoma genomic chromosome proton beam therapy irradiation fine-needle aspiration biopsy endoresection |
title | Comparative Cytogenetic Abnormalities in Paired Choroidal Melanoma Samples Obtained Before and After Proton Beam Irradiation by Transscleral Fine-Needle Aspiration Biopsy and Endoresection |
title_full | Comparative Cytogenetic Abnormalities in Paired Choroidal Melanoma Samples Obtained Before and After Proton Beam Irradiation by Transscleral Fine-Needle Aspiration Biopsy and Endoresection |
title_fullStr | Comparative Cytogenetic Abnormalities in Paired Choroidal Melanoma Samples Obtained Before and After Proton Beam Irradiation by Transscleral Fine-Needle Aspiration Biopsy and Endoresection |
title_full_unstemmed | Comparative Cytogenetic Abnormalities in Paired Choroidal Melanoma Samples Obtained Before and After Proton Beam Irradiation by Transscleral Fine-Needle Aspiration Biopsy and Endoresection |
title_short | Comparative Cytogenetic Abnormalities in Paired Choroidal Melanoma Samples Obtained Before and After Proton Beam Irradiation by Transscleral Fine-Needle Aspiration Biopsy and Endoresection |
title_sort | comparative cytogenetic abnormalities in paired choroidal melanoma samples obtained before and after proton beam irradiation by transscleral fine needle aspiration biopsy and endoresection |
topic | uveal melanoma choroidal melanoma genomic chromosome proton beam therapy irradiation fine-needle aspiration biopsy endoresection |
url | https://www.mdpi.com/2072-6694/11/8/1173 |
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