Molecular assessment has become a routinely utilized and essential tool in modern medicine. Microscopic evaluation, along with molecular assessment of neoplastic lesions, helps in rendering specific diagnoses and has been the gold standard for examining neoplastic lesions. Molecular assessment of these lesions permits in rendering narrow and specific diagnoses. Molecular microscopic correlation will not only help in the diagnosis of ambiguous cases but will also help in providing tailored patient care.
Array Comparative Genomic Hybridization (CGH)
Comparative genomic hybridization has emerged as a powerful tool in molecular diagnosis. CGH has the potential to reveal whether a melanocytic lesion removed from a patient was benign or malignant. In this technique, DNA extracted from the neoplastic lesion is compared with normal DNA to detect changes in DNA copy number. We use Agilent 180K arrays which have 170,334 biologically distinct features with a median probe spacing of 13Kb covering the entire human genome.
Sequencing has been used as a tool in molecular diagnosis for some time, and has proven indispensable in detecting mutations within targeted regions. Identifying lesions at the molecular level allows for classifying melanoma into a subtype, thereby assisting the clinician, both in providing a tailored treatment plan as well as enrolling the patient in correct clinical trials. With the advancement of research at such a vital phase, new mutations and drugs are rapidly being discovered. Through Sanger sequencing, we look at various genes which are mutated in melanoma.
Please Note: As of July 2015 Sanger Sequencing is now offered through UCSF’s Clinical Cancer Genomics Lab (CCGL), located at 2340 Sutter Street, Room S151. Their contact phone number is (415) 502-3252.
Fluorescent In Situ Hybridization (FISH)
FISH is a diagnostic test that detects the differences in chromosomal alterations between melanoma and nevi. FISH may provide useful diagnostic information in cases that cannot be classified reliably by other current methods.
Note on Molecular Testing
Our report may recommend molecular testing. Though CPT codes now exist for all molecular testing, some insurances do not yet cover this. Your office may want to speak with the patient regarding cost. If your patient would like to proceed, we will need either the block or unstained slides. Molecular microscopic correlation will not only help in the diagnosis of ambiguous cases but will also help in providing tailored patient care.