June 2022
Volume 63, Issue 7
Open Access
ARVO Annual Meeting Abstract  |   June 2022
Cyclin D1 Expression and Molecular Genetic Findings in Periocular Histiocytic-Dendritic Neoplasms
Author Affiliations & Notes
  • Roger Henry
    Ophthalmology, Rutgers Robert Wood Johnson Medical School, Piscataway, New Jersey, United States
    Ocular Pathology, Wills Eye Hospital, Philadelphia, Pennsylvania, United States
  • Maya Eiger-Moscovich
    Ophthalmology, Hadassah Medical Center, Jerusalem, Jerusalem, Israel
  • Tatyana Milman
    Ocular Pathology, Wills Eye Hospital, Philadelphia, Pennsylvania, United States
    Pathology, Anatomy, and Cell Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, United States
  • Footnotes
    Commercial Relationships   Roger Henry None; Maya Eiger-Moscovich None; Tatyana Milman None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science June 2022, Vol.63, 3585 – A0014. doi:
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      Roger Henry, Maya Eiger-Moscovich, Tatyana Milman; Cyclin D1 Expression and Molecular Genetic Findings in Periocular Histiocytic-Dendritic Neoplasms. Invest. Ophthalmol. Vis. Sci. 2022;63(7):3585 – A0014.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : Histiocytic-dendritic (HD) neoplasms may involve the eye and other organs resulting in significant morbidity and even mortality. Previous studies of non-periocular HD demonstrated mutations in mitogen-activated protein kinase (MAPK) genes leading to MAPK pathway activation. As a result of MAPK signaling activation, expression of CCND1 (cyclin D1) protein is upregulated. CCND1 immunohistochemical (IHC) stain has been shown to be a useful ancillary diagnostic marker and to correlate with MAPK gene mutations in non-periocular HD neoplasms. Our objective was to determine whether periocular HD neoplasms express CCND1 via IHC and to further characterize their genetic basis.

Methods : We retrospectively searched pathology records for all patients with HD neoplasms diagnosed (years 1995-2020). Select cases with non-specific histiocyte-rich ocular adnexal inflammation served as controls. Immunohistochemistry was performed with CD68, S100, CD1a, and CCND1. A subset of HD Neoplasms was evaluated via next generation sequencing (NGS) and digital droplet PCR (ddPCR).

Results : HD neoplasms were identified in 36 patients: juvenile xanthogranuloma (N=9), adult onset asthma and periocular xanthogranuloma (N=8), Langerhans cell histiocytosis (N=7), Rosai-Dorfman disease (N=5), adult isolated xanthogranuloma (N=5), Erdheim-Chester disease (N=1), and histiocytic sarcoma (N=1). Eleven patients with non-specific histiocyte-rich inflammation were selected as controls. Compared to non-specific inflammation, HD neoplasms demonstrated strong nuclear staining for CCND1 in >50% lesional cells [23/36 (64%) vs. 0/11 (0%), p<0.001]. NGS and ddPCR on a subset of 17 histiocytic-dendritic neoplasms demonstrated MAPK gene mutations in all 16 cases with amplifiable DNA.

Conclusions : CCND1 immunohistochemistry is a useful diagnostic marker for periocular HD neoplasms, correlating with underlying mutations in MAPK genes.

This abstract was presented at the 2022 ARVO Annual Meeting, held in Denver, CO, May 1-4, 2022, and virtually.

 

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