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Z. M. Correa, J. J. Augsburger, C. C. Simoes, J. W. Harbour; Association Between Gene Expression Profile Classification and Cytopathologic Cell Type of Melanocytic Uveal Tumors Evaluated by FNAB. Invest. Ophthalmol. Vis. Sci. 2009;50(13):5237.
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To determine whether there is any relationship between Gene Expression Profiling (GEP) classification and cytopathologic diagnosis of melanocytic uveal tumors sampled by fine needle aspiration biopsy (FNAB).
Samples from 44 melanocytic uveal tumors were obtained by FNAB. In each case, at least 2 samples were obtained and evaluated cytopathologically for melanocytic cell type and by GEP for the presence of the Class 1 (favorable) versus Class 2 (unfavorable) signature. The relationship between GEP and cytopathologic classification of tumor cells was evaluated by cross tabulation analysis.
The cytopathologic diagnosis was melanocytic nevus in 1 case, borderline melanocytic uveal tumor in 4 cases, spindle cell melanoma in 10 cases, mixed cell melanoma in 8 cases, epithelioid cell and/or necrotic melanoma in 12 cases, and uveal melanoma of unspecified cell type in 3 cases. Six of the 44 tumors (13.6%) yielded an insufficient specimen for cytodiagnosis even though they had been sampled in 2 or more sites. In contrast, FNAB yielded a sufficient specimen for GEP in all 44 cases. Twenty five cases (56.8%) were categorized as Class 1 and 19 (43.2%) were categorized as Class 2. The cytodiagnosis for Class 1 tumors was epithelioid cell and/or necrotic melanoma in 6 cases, mixed cell or unspecified melanoma in 5, insufficient for diagnosis in 5, spindle cell melanoma in 5, borderline in 3, and nevus in 1 case. The cytodiagnosis for Class 2 tumors was epithelioid cell and/or necrotic melanoma in 6 cases, mixed cell or unspecified melanoma in 6, spindle cell melanoma in 5, borderline in 1, and insufficient for diagnosis in 1 case. The cytodiagnosis was non-melanoma or indeterminate in 9 Class 1 tumors and 2 Class 2 tumors, and it was definite melanoma in 16 Class 1 tumors and 17 Class 2 tumors. This difference did not reach statistical significance (P = 0.081, Fisher exact test).
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