AI Article Synopsis

  • Basal cell carcinoma (BCC) is primarily caused by UV radiation, but this case highlights BCCs developing after radiotherapy 80 years prior, showcasing a rare long latency period.
  • The patient, a 93-year-old woman, had four BCCs on her scalp, with the largest showing complex histological features and significant genomic differences compared to the others.
  • Genomic analysis revealed unique imbalances in the largest lesion, including specific gene losses linked to apoptosis regulation and DNA repair, suggesting a common genetic signature across all tumors while explaining their varying characteristics.

Article Abstract

Basal cell carcinoma (BCC) has been linked mostly to ultraviolet radiation exposure, but ionizing radiation has also been implicated in the genesis of a subset of BCCs occurring after radiotherapy. We present a 93-year-old woman with 4 BCCs of the scalp after radiotherapy for tinea capitis, diagnosed after a latency period of over 80 years. The largest lesion was located on the right temporal region and corresponded to a BCC of mixed type, with nodular, infiltrative, and micronodular components. We performed genomic study with array comparative genomic hybridization in samples from each BCC, which revealed more imbalances in the largest lesion than in the remaining ones, correlating with its higher histological complexity. Furthermore, this was the only lesion presenting loss at 2p22.3, where is mapped the BIRC6 gene associated with regulation of apoptosis, and loss at 16q24.3, where is mapped FANCA gene, responsible for DNA repair and maintenance of chromosome stability. Despite these differences, there were aberrations shared by all tumor samples, suggesting a common genetic signature. Our report describes, to the best of our knowledge, the longest latency period between exposure to radiotherapy and the diagnosis of BCC. The genomic study showed imbalances common to all tumor samples but also differences that could explain their heterogeneity in terms of histological subtype and biological potential. In addition, these differences could also be a consequence of different times in the evolution of the lesions at the moment of presentation, thus having a diverse combination of accumulated genomic imbalances.

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Source
http://dx.doi.org/10.1097/DAD.0000000000001801DOI Listing

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