Retinoblastoma Metastatic to Bone: Case Series and Literature Review

Authors

  • Pablo Troop MD Anderson CATALYST Trainee, Summer 2025, The University of Texas MD Anderson Cancer Center, Houston, TX
  • Bita Esmaeli Oncologic Ophthalmic Plastic & Orbital Surgery, PLLC & Mann Eye Institute Houston, TX
  • J. Matthew Debnam Department of Neuroradiology, The University of Texas MD Anderson Cancer Center, Houston, TX

DOI:

https://doi.org/10.3941/jrcr.6131

Abstract

Retinoblastoma (RB) is a treatable tumor that arises in the retina, mainly affecting children under 2 years old. It results from a mutation on the long arm of chromosome 13, specifically of the RB1 gene (13q14). Patients with the hereditary form of RB have a higher incidence of metastases and secondary cancer development. These cancers, including metastasis, secondary malignant neoplasms, and radiation-associated sarcomas, are rare and typically occur in advanced stages. Although the overall prognosis for RB is generally favorable, it declines significantly when metastases develop. While rare, the most common sites of RB metastasis are the brain, osseous structures, cervical nodes, central nervous system, lungs, and liver. Here, we present the clinical and radiologic features of three patients with osseous metastasis from RB and review current literature, including the development of secondary malignant neoplasms, radiation-associated sarcomas, prognosis, and treatment options. 

A 2-year-old male with metastatic RB to the calvarium, maxillofacial region, neck nodes, and liver. (A) Axial T2 MRI shows a hypointense mass in the vitreous of the right globe (white arrow) and a hypointense mass involving the right retina (black arrow). (B) Axial T1 post-contrast MRI shows metastases to the sphenoid bones bilaterally (arrows) with extension into the left greater than right orbit and proptosis of the left globe. (C) Axial T1 post-contrast MRI shows a left frontal calvarial metastasis with epidural extension and mass effect upon the frontal lobes (arrow). (D) Axial T1 post-contrast MRI shows a right mandible metastasis (white arrow) and a metastasis to the right occipital bone (black arrow). (E) Axial T1 post-contrast MRI shows a right mandible metastasis (white arrow) and a metastatic right upper neck node (black arrow). (F) CT abdomen with contrast shows multiple liver metastases (arrows)

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Published

2026-07-30

Issue

Section

Neuroradiology