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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Main Authors: 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
Format: Article
Language:English
Published: MDPI AG 2019-08-01
Series:Cancers
Subjects:
Online Access:https://www.mdpi.com/2072-6694/11/8/1173
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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 &#177; 14 years, tumor thickness was 8.6 &#177; 1.7 mm and tumor diameter was 12.4 &#177; 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 &#177; 14 years, tumor thickness was 8.6 &#177; 1.7 mm and tumor diameter was 12.4 &#177; 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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