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diagnoses of adequate biopsy.

The majority of melanomas can be accurately diagnosed based on an adequate biopsy. However, for specific subsets of melanocytic proliferations, there exist conflicting and/or ambiguous features that preclude a definitive consensus diagnosis on histologic grounds. The morphologic limitations in the diagnosis of these histologically borderline melanocytic tumors lead to both under- and over-diagnosis of melanoma. To address this limitation, Dr. Kolhe’s laboratory is investigating various methods that will aid in the accurate diagnosis of melanoma. MiRNA expression profiles (n=48) of melanoma vs dysplastic nevus were evaluated using the Affymertrix miRNA microarray platform on GeneChip miRNA 3.0 array and later confirmed by the HTG genomics qNPA molecular technology platform. The miRNA expression profiles of melanoma vs dysplastic Nevus, showed significant (>8 times, p<0.05) upregulation of mir-21 in melanoma. In collaboration with BioGenex Inc., Dr.Kolhe’s laboratory developed chromogenic in-situ hybridization (CISH) probes for mir-21. In comparison to dysplastic nevus, neoplastic cells in melanoma showed prominent nuclear staining for miR-21 (Laboratory Investigation. 2015, 95:75). By using microarray technology, Dr. Kolhe’s laboratory has developed a more sensitive testing approach for cytogenetically normal acute myeloid leukemia (AML) patients. A large percentage of patients with this most common form of adult leukemia are said to have normal chromosomes but appear instead to have a distinct pattern of genetic abnormalities that could better define their prognosis and treatment. The Kolhe Laboratory identified 22 cases of AML/myelodysplastic syndrome (MDS) that had normal karyotype and FISH. Subsequently, high resolution SNP microarray using CytoScanHD Microarray (Affymetrix, Inc.) was performed on DNA isolated from methanol-acetic acid-fixed marrow pellets following the American College of Medical-Genetics (ACMG) guidelines for neoplastic disorders. One-hundred percent of kn-AML/MDS cases showed several small common regions of copy neutral regions of homozygosity (ROH), 27% of cases had a gain/loss and/or mosaicism. Interestingly all AML cases showed ROH in chromosome 1p34.3, chromosome 1p32.3, and chromosome 16q22.1 (Laboratory Investigation. 2015, 95:75).