Comparative Cytogenetic Abnormalities in Paired Choroidal Melanoma Samples Obtained Before and After Proton Beam Irradiation by Transscleral Fine-Needle Aspiration Biopsy and Endoresection

Cancers

卷:11

Gaëlle Pierron¹  Khadija Aït Raïs¹  Manuel Rodrigues²  Martina Angi³  Livia Lumbroso-Le Rouic³  Denis Malaise³  Christine Lévy-Gabriel³  Nathalie Cassoux⁴  Alexandre Matet⁴  Rémi Dendale⁵  Sarah Tick⁶ 

[1] Department of Genetics, Somatic Genetic Unit, Institut Curie, PSL Research University, F-75005 Paris, France;

[2] Department of Medical Oncology and INSERM U830, Institut Curie, PSL Research University, F-75005 Paris, France;

[3] Department of Ophthalmology, Institut Curie, PSL Research University, F-75005 Paris, France;

[4] Department of Ophthalmology, Institut Curie, Université Paris Descartes, Sorbonne Paris Cité, F-75005 Paris, France;

[5] Department of Radiation Therapy, Institut Curie, PSL Research University, F-75005 Paris, France;

[6] Quinze-Vingts Ophthalmology National Hospital, F-75012 Paris, France;

关键词: uveal melanoma;    choroidal melanoma;    genomic;    chromosome;    proton beam therapy;    irradiation;    fine-needle aspiration biopsy;    endoresection;   

DOI  :  10.3390/cancers11081173

来源: DOAJ

【 摘 要 】

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%) (p = 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 GNAQ or GNA11 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.

【 授权许可】

Unknown