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Biopsy for molecular risk stratification in uveal melanoma: Yields and molecular characteristics in 119 patients.
Lin, Vivian; Chung, In Young; Toumi, Elsa; McKay, Daniel; McKenzie, John; McKelvie, Penny; Zabih, Farida; Hoffmeister, Alexandra; Wright, Dale; Ntzaferi, Aphrodite; Wu, Iris Junhong; Hesson, Luke; Fung, Adrian; Lim, Li-Anne; Wong, Stephen; Field, Andrew; Earls, Peter; Giblin, Michael; Conway, Robert Max; Cherepanoff, Svetlana.
Affiliation
  • Lin V; School of Medical Sciences, Faculty of Medicine, UNSW, Sydney, Australia.
  • Chung IY; Royal Victorian Eye & Ear Hospital, Melbourne, Australia.
  • Toumi E; Department of Anatomical Pathology and Molecular Oncology, SydPath, St Vincent's Hospital Sydney, Sydney, Australia.
  • McKay D; Royal Victorian Eye & Ear Hospital, Melbourne, Australia.
  • McKenzie J; Royal Victorian Eye & Ear Hospital, Melbourne, Australia.
  • McKelvie P; Department of Anatomical Pathology, St Vincent's Hospital Melbourne, Melbourne, Australia.
  • Zabih F; Department of Cancer Genetics, SydPath, St Vincent's Hospital, Sydney, Australia.
  • Hoffmeister A; Department of Cancer Genetics, SydPath, St Vincent's Hospital, Sydney, Australia.
  • Wright D; Department of Cytogenetics, Children's Hospital Westmead, Westmead, Australia.
  • Ntzaferi A; Discipline of Paediatrics & Child Health, Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.
  • Wu IJ; Department of Cancer Genetics, SydPath, St Vincent's Hospital, Sydney, Australia.
  • Hesson L; Department of Cancer Genetics, SydPath, St Vincent's Hospital, Sydney, Australia.
  • Fung A; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, Australia.
  • Lim LA; Prince of Wales Clinical School, Faculty of Medicine, UNSW Sydney, Sydney, Australia.
  • Wong S; Department of Molecular Genetics, Douglass Hanly Moir Pathology, Macquarie Park, Australia.
  • Field A; Westmead and Central Clinical Schools, Specialty of Clinical Ophthalmology and Eye Health, Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.
  • Earls P; Department of Ophthalmology, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, Australia.
  • Giblin M; Chatswood Private Hospital, Chatswood, Australia.
  • Conway RM; Sydney Eye Hospital, Sydney, Australia.
  • Cherepanoff S; Department of Anatomical Pathology and Molecular Oncology, SydPath, St Vincent's Hospital Sydney, Sydney, Australia.
Clin Exp Ophthalmol ; 50(1): 50-61, 2022 01.
Article in En | MEDLINE | ID: mdl-34714583
ABSTRACT

BACKGROUND:

Prognostic cytological and molecular features of uveal melanoma have been well researched and are essential in management. Samples can be obtained in vivo through fine needle aspirate biopsy, vitrector cutter, forceps or post-enucleation for off-site testing. This study aims to examine cytological and chromosome microarray yields of these samples.

METHODS:

A retrospective cohort analysis of 119 uveal melanoma biopsies submitted to our laboratory. Samples included those taken in vivo (n = 57) and post-enucleation (n = 62). Patient and tumour features were collected including age, sex, primary tumour location, basal diameter and tumour height. Prognostic outcomes measured include cell morphology, chromosomal status and immunohistochemistry.

RESULTS:

Post-enucleation biopsies accounted for just over half of our samples (52%). Post-enucleation samples had a more successful genetic yield than in vivo biopsies (77% vs. 50%, p = 0.04) though there was no difference for cytological yields. There was no difference in cytological or microarray yields between instruments. The vitrector biopsy group had the smallest tumour thickness (5 mm vs. 10 mm [fine-needle aspirate biopsy], p = 0.003). There was a strong correlation between monosomy 3, BAP1 aberrancy and epithelioid cell type in post-enucleation samples (Tb  = 0.742, p = 0.005). However, epithelioid morphology was not associated with either monosomy 3 (p = 0.07) or BAP1 aberrancy (p = 0.24) for in vivo biopsies.

CONCLUSIONS:

All three biopsy instruments provide similar cytological yields as post-enucleation sampling, although post-enucleation samples had a more successful chromosome microarray yield. Epithelioid cytomorphology alone is insufficient for prognostication in in vivo biopsies, immunohistochemistry would be a useful surrogate test.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Uveal Neoplasms Type of study: Diagnostic_studies / Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Clin Exp Ophthalmol Journal subject: OFTALMOLOGIA Year: 2022 Document type: Article Affiliation country: Australia

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Uveal Neoplasms Type of study: Diagnostic_studies / Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Clin Exp Ophthalmol Journal subject: OFTALMOLOGIA Year: 2022 Document type: Article Affiliation country: Australia