Utility of Molecular Testing in Fine Needle Aspiration and Needle Core Biopsy Diagnosis of Renal Mass Lesions.
Sonal N Kamat, Sara E Monaco, Liron Pantanowitz, Walid Khalbuss, Guoping Cai, Anil V Parwani. University of Pittsburgh Medical Center, PA; Yale University School of Medicine, New Haven, CT
Background: Fine-needle aspiration (FNA) and needle core biopsy (NCB) can provide essential information for the diagnosis and management of renal masses. However, reported disadvantages of these diagnostic modalities include high unsatisfactory rates, false negative diagnoses and difficulty in subclassifying renal tumors. The later may be due to inadequate sampling and/or lack of helpful ancillary studies. Our aim was to review the value of diagnostic molecular testing on FNA and NCB material from renal tumors.
Design: A total of 120 cases of renal FNA were obtained from the cytopathology archives at our institution from 2000 to 2010. Complementary NCB was performed on 20 of these renal masses. Diagnoses were categorized as malignant, atypical, benign or unsatisfactory. Cytological diagnoses were correlated with subsequent surgical pathology findings in 42 available cases. Molecular tests performed included fluorescence in-situ hybridization (FISH) with UroVysion probes (for chromosomes 3, 7, 17 & 9p21 band), trisomy and monosomy for chromosomes 1,7 and 17 and loss of heterozygosity (LOH) for deletion (del) 3p in total of 12 cases with sufficient cell block or NCB material from 2008-2010.
Results: Solid lesions (n=101) were classified as unsatisfactory in 4 cases (4%), benign in 11 (11%), atypical in 14 (14%), and malignant in 72 (72%) cases. For cystic lesions (n=19), 16 (84%) were benign and 3 (16%) atypical. Malignant cases included 25 renal cell carcinoma (RCC) with subtyping, 27 RCC not otherwise specified (NOS), 4 oncocytic neoplasms, 6 urothelial carcinomas (UC), 1 neuroendocrine carcinoma, 3 metastatic carcinomas, and 6 B-cell non-Hodgkin lymphoma. Molecular testing was positive in 7 of 12 cases (58%). FISH with UroVysion was positive (trisomy 3, 7 and 17) in 2 cases, including1 case of UC and 1 case of papillary RCC. FISH was also positive for monosomy 1, 7, 17 in 1 clear cell RCC. UroVysion was negative in 1 case of poorly differentiated UC. LOH studies for del 3p were performed in 8 cases and was positive in 4 (50%) cases of RCC clear cell type, negative in 2 (25%) cases of RCC (NOS), and negative in 2 atypical cases (25%).
Conclusions: This data suggests that molecular testing performed on FNA and NCB may enhance the diagnosis of specific renal neoplasms. The greatest drawback is limited sampling which results in inadequate material for molecular testing. On-site cytological evaluation and complementary NCB may assure adequate sampling.
Wednesday, March 2, 2011 1:00 PM
Poster Session VI # 77, Wednesday Afternoon