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Aggressive skull base metastasis from uveal melanoma: a clinicopathologic study
Yoshihiro Yonekawa1, Ivana K Kim, Evangelos S Gragoudas
1Retina Service, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts - USA.
European Journal of Ophthalmology
|April 15, 2014
Summary
This case study details a rare instance of choroidal melanoma with late, aggressive skull base metastasis. The patient lacked BAP1 mutations, suggesting alternative pathways for uveal melanoma progression.
Area of Science:
- Ophthalmology
- Oncology
- Genetics
Background:
- Choroidal melanoma is a primary ocular malignancy.
- Metastasis typically involves the liver, but other sites can be affected.
- Genetic mutations, particularly in BAP1, are implicated in uveal melanoma pathogenesis.
Observation:
- A 55-year-old woman with choroidal melanoma treated with radiotherapy experienced a local recurrence six years later.
- The recurrence involved the iris and ciliary body, with subsequent aggressive metastasis to the skull base.
- No hepatic metastases were detected during the patient's course.
Findings:
- Histopathology confirmed metastatic melanoma in the skull base.
- Both ocular and brain tumor specimens were wild-type for BAP1 mutations.
- The metastatic disease presented with delayed onset and unusual aggressiveness.
Implications:
- Uveal melanoma can metastasize to the skull base, even years after initial treatment.
- The absence of BAP1 mutations in this case suggests alternative molecular mechanisms driving aggressive metastatic disease.
- This case highlights a unique phenotype of uveal melanoma with potential implications for understanding metastatic potential and treatment strategies.
