Plasma circulating tumor DNA to assist in the diagnosis of unknown primary malignancy underlying choroidal metastases Journal Article

  


Authors: Francis, J. H.; Levine, S.; Canestraro, J.; Eng, J.; Abramson, D. H.
Article Title: Plasma circulating tumor DNA to assist in the diagnosis of unknown primary malignancy underlying choroidal metastases
Abstract: PURPOSE: Management of suspected choroidal metastases requires diagnostic imaging and an invasive, sometimes intraocular, biopsy to determine the primary malignancy. This multistep process takes time, which may affect morbidity and mortality. METHODS: This was a retrospective review of one case. RESULTS: A 56-year-old woman presented with bilateral amelanotic choroidal masses suspicious for metastases of unknown origin. Plasma circulating tumor DNA revealed EGFR , PTEN , and SMAD4 , a profile consistent with non-small-cell lung cancer. Subsequent radiographic imaging and scapular biopsy revealed lung adenocarcinoma and genetic profile concordant with the liquid biopsy. The patient was started on EGFR inhibitor, osimertinib, with measurable systemic and ocular response. CONCLUSION: Plasma circulating tumor DNA revealed the genetic profile of the primary malignancy underlying choroidal metastases of unknown origin, aiding in the prompt diagnosis and detecting the driver mutation that guided management with targeted therapy. Copyright © 2024 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the Opthalmic Communications Society, Inc.
Keywords: middle aged; retrospective studies; genetics; case report; lung neoplasms; retrospective study; lung tumor; blood; diagnosis; cancer of unknown primary site; choroid tumor; choroid neoplasms; neoplasms, unknown primary; humans; human; female; circulating tumor dna
Journal Title: Retinal cases & brief reports
Volume: 19
Issue: 1
ISSN: 19371578
Publisher: Wolters Kluwer Health, Inc  
Date Published: 2025-01-01
Start Page: 46
End Page: 49
Language: English
DOI: 10.1097/icb.0000000000001518
PUBMED: 38113252
PROVIDER: scopus
DOI/URL:

https://www.scopus.com/inward/record.uri?eid=2-s2.0-85213491068&doi=10.1097%2fICB.0000000000001518&partnerID=40&md5=8c699cc82783fa1f583371d52f010f47
Notes: Article -- MSK Cancer Center Support Grant (P30 CA008748) acknowledged in PubMed and PDF -- MSK corresponding author is Jasmine Francis -- Source: Scopus
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MSK Authors
  1. Jasmine Helen Francis
    256 Francis
  2. David H Abramson
    389 Abramson
  3. Juliana Wai Ming Eng
    45 Eng
  4. Julia Canestraro
    27 Canestraro
  5. Sara Nicole Levine
    2 Levine
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