Abstract

Molecular diagnostic studies are sometimes used to provide additional information when diagnosing difficult to classify melanocytic tumors. Such studies include fluorescent in situ hybridization (FISH), comparative genomic hybridization (CGH), and next generation sequencing (NGS). Despite our growing understanding of the molecular pathogenesis of melanocytic tumors, diagnosis and prognosis for these tumors requires integration of histopathologic and molecular findings. Large-scale studies in dermatopathology that specifically correlate ancillary study results with long-term clinical outcomes in patient samples that present diagnostic challenges are lacking due to the rarity of these tumors in clinical practice and the difficulty in obtaining long-term follow-up. We performed a retrospective study at our institution to collect self-reported follow-up data from patients with melanocytic tumors on which FISH, CGH or gene panel testing were performed as part of the diagnostic workup between 2011 and 2021. Of 1782 patients eligible for the study, a survey was sent to their address of record. In addition, 913 patients received a phone call or voicemail to explain the study and recruit enrollment. 251 patients fully or partially completed the survey. Of these patients, 76 patients had a benign diagnosis, 77 patients had an intermediate or ambiguous diagnosis, and 98 patients received a diagnosis of melanoma. 28 patients reported disease recurrence (7 benign, 5 intermediate, 16 malignant). This study provides a proof of concept and a foundation for incorporating patient reported outcomes in the study of rare melanocytic tumors. This work can inform the targeted use of these diagnostic tools to improve the accuracy of diagnosis and therefore, patient outcomes.

Financial Disclosure:
No current or relevant financial relationships exist.