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Oncology
Ocular findings in patients with histiocytosis and association with clinical and molecular features
  1. Jasmine H Francis1,2,
  2. Anne S Reiner3,
  3. Julia Canestraro1,
  4. Raajit K Rampal2,4,
  5. David H Abramson1,2,
  6. Eli L Diamond2,5
  1. 1Ophthalmic Oncology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, New York, USA
  2. 2Weill-Cornell Medical Center, New York, New York, USA
  3. 3Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, New York, USA
  4. 4Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA
  5. 5Department of Neurology, Memorial Sloan Kettering Cancer Center, New York, New York, USA
  1. Correspondence to Dr Jasmine H Francis, Ophthalmic Oncology, Memorial Sloan Kettering Cancer Center, New York, New York, USA; francij1{at}mskcc.org

Abstract

Background/aims Ocular manifestations of histiocytosis and their genetic underpinnings are poorly characterised. This study characterises ocular sites of histiocytosis, notate genetic alterations and correlates to histiocytosis clinical features including subtype and sites of disease.

Methods Prospective registry-based study of predominantly adult histiocytosis patients at a single-institution tertiary referral centre. 180 eyes of 90 patients (46 males, 44 females) with histiocytosis (Erdheim-Chester disease 34, Rosai-Dorfman 20, xanthogranuloma 7, mixed histiocytosis 13, Langerhans cell histiocytosis (LCH) 15, ALK-positive histiocytosis 1). Ocular findings were categorised by the structure involved. Histiocytosis subtype, sites of disease and genetic status were correlated to ocular findings.

Results Ocular disease was present in more than half the histiocytosis patient cohort and occurred with other disease sites. Ocular findings were statistically significantly different across histiocytic subtypes with LCH subtypes having the lowest proportion of ocular findings (7%) and all other subtypes having rates of ocular findings which were five times that of patients with LCH (p=0.0009). Of patients with ocular findings, 41% of patients reported ocular symptoms and were significantly more in the group with ocular disease present versus those patients without ocular involvement. The presence of ocular findings was not statistically different by BRAFV600E, MAP2K1 or RAS isoform mutational status.

Conclusions Ocular disease is a common feature of histiocytosis with significant visual symptomatology and occurrence in tandem with multisystem sites. Ocular findings vary by histiocytic subtype. The mutational profile of the cohort reflects known mutations in this clinical population, with no specific driver mutation associated with ocular disease.

  • Choroid
  • Genetics
  • Inflammation
  • Orbit
  • Pathology

Data availability statement

Data are available on reasonable request. Data are available on reasonable request via email to the first author.

https://doi.org/10.1136/bjo-2023-324877

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    Data availability statement

    Data are available on reasonable request. Data are available on reasonable request via email to the first author.

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    Footnotes

    • Contributors Conception or design of study (JHF and ELD); Acquisition, analysis or interpretation of data (JHF, ASR, JC, RKR, DHA and ELD); Drafting of manuscript (JHF); Critical revision of manuscript (JC, RKR, DHA and ELD); Guarantor (JHF).

    • Funding This study was supported by The Fund for Ophthalmic Knowledge (JHF), Research to Prevent Blindness (JHF), the Histiocytosis Association (JHF) and Cancer Center Support Grant (P30 CA008748) (all authors). This work was also supported by the National Cancer Institute (R37CA259260; ELD), the Frame Family Fund (ELD), the Joy Family West Foundation (ELD) and the Applebaum Foundation (ELD).

    • Disclaimer The sponsor or funding organisation had no role in the design or conduct of this research.

    • Competing interests JHF-none, ASR-none, JC-none, RKR-consulting fees from Incyte, Celgene/MS, Blueprint, AbbVie, Promedior, CTI, Stemline, Galecto, Pharmaessentia, Protagonist, Constellation/Morphosys, Novartis, Sierra Oncology/GSK and Servier Research funding from Constellation Pharmaceuticals, Incyte, Zentalis and Stemline Therapeutics, DHA-none, ELD-unpaid editorial support from Pfizer and serves on an advisory board for Day One Biotherapeutics, Springworks Therapeutics and Opna Bio, all outside the submitted work.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.