BACKGROUND: Melanoma in children is rare. Diagnosis of the subtype of melanoma known as Spitzoid melanoma can be extremely challenging in this age group. Spitzoid melanoma clinically and histopathologically resembles a benign melanocytic proliferation referred to as Spitz nevus. In some cases, distinction between the two is impossible. Initial misdiagnoses of Spitzoid melanomas as Spitz nevi, thus leading to fatal outcomes, have occurred. The genetic basis and biologic behavior of Spitzoid melanoma is unknown. Although melanoma specimens exhibit high rates of mutation in the B‐RAF and N‐RAS genes, the Spitzoid melanoma subtype has not been evaluated. Spitz nevi have been found to be associated with a low percentage of mutations in the H‐RAS gene; however, the mutational profile of H‐RAS in Spitzoid melanoma is unknown.METHODS: The authors evaluated a unique series of melanomas occurring in prepubescent children that showed Spitz nevus–like histopathology (Spitzoid melanoma). All of the melanomas in the current series have metastasized to lymph nodes, confirming the diagnosis of melanoma. The authors examined these tumors, as well as age‐matched Spitz nevi, for mutations in the B‐RAF, N‐RAS, and H‐RAS genes.RESULTS: Activating hotspot mutations in the B‐RAF, N‐RAS, and H‐RAS genes were not identified in Spitzoid melanoma or Spitz nevus specimens.CONCLUSIONS: There are genetic similarities with respect to the B‐RAF, N‐RAS, and H‐RAS genes between Spitzoid melanoma and Spitz nevi. Such similarities further differentiate these two tumor types from other melanoma subtypes and from melanocytic nevi, respectively. However, mutation analysis of B‐RAF, N‐RAS, and H‐RAS was not useful in differentiating between Spitzoid melanoma and Spitz nevus in children. Cancer 2004. © 2004 American Cancer Society.

Importance The limited tissue sampling of a biopsy can lead to an incomplete assessment of basal cell carcinoma (BCC) subtypes and depth. Reflectance confocal microscopy (RCM) combined with optical coherence tomography (OCT) imaging may enable real-time, noninvasive, comprehensive three-dimensional sampling in vivo, which may improve the diagnostic accuracy and margin assessment of BCCs. Objective To determine the accuracy of a combined RCM-OCT device for BCC detection and deep margin assessment. Design, Setting, and Participants This pilot study was carried out on 85 lesions from 55 patients referred for physician consultation or Mohs surgery at Memorial Sloan Kettering Skin Cancer Center in Hauppauge, New York. These patients were prospectively and consecutively enrolled in the study between January 1, 2017, and December 31, 2017. Patients underwent imaging, with the combined RCM-OCT probe, for previously biopsied, histopathologically confirmed BCCs and lesions clinically or dermoscopically suggestive of BCC. Only patients with available histopathologic examination after imaging were included. Main Outcomes and Measures Improvements in sensitivity, specificity, and diagnostic accuracy for BCC using the combined RCM-OCT probe as well as the correlation between OCT-estimated depth and histopathologically measured depth were investigated. Results In total, 85 lesions from 55 patients (27 [49%] were female and 28 [51%] were male with a median [range] age of 59 [21-90] years) were imaged. Imaging was performed on 25 previously biopsied and histopathologically confirmed BCCs and 60 previously nonbiopsied but clinically or dermoscopically suspicious lesions. Normal skin and BCC features were correlated and validated with histopathologic examination. In previously biopsied lesions, residual tumors were detected in 12 of 25 (48%) lesions with 100% sensitivity (95% CI, 73.5%-100%) and 23.1% specificity (95% CI, 5.0%-53.8%) for combined RCM-OCT probe. In previously nonbiopsied and suspicious lesions, BCCs were diagnosed in 48 of 60 (80%) lesions with 100% sensitivity (95% CI, 92.6%-100%) and 75% specificity (95% CI, 42.8%-94.5%). Correlation was observed between depth estimated with OCT and depth measured with histopathologic examination: the coefficient of determination (R2) was 0.75 (R = 0.86;P < .001) for all lesions, 0.73 (R = 0.85;P < .001) for lesions less than 500 μm deep, and 0.65 (R = 0.43;P < .001) for lesions greater than 500 μm deep. Conclusions and Relevance Combined RCM-OCT imaging may be prospectively used to comprehensively diagnose lesions suggestive of BCC and triage for treatment. Further validation of this device must be performed on a larger cohort.