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Case Report

Personalized surveillance in giant congenital melanocytic nevus, including the role of AI, histopathology and MC1R genotyping: A case report

  • Authors:
    • Preslav Vasilev
    • Ivelina Yordanova
    • Savelina Popovska
    • Zornitsa Kamburova
  • View Affiliations / Copyright

    Affiliations: Department of Dermatology, Venereology and Allergology, Faculty of Medicine, Medical University‑Pleven, 5800 Pleven, Bulgaria, Department of General and Clinical Pathology, Faculty of Medicine, Medical University‑Pleven, 5800 Pleven, Bulgaria, Centre of Competence in Personalized Medicine, 3D and Telemedicine, Robotic Assisted and Minimally Invasive Surgery‑‘Leonardo da Vinci’, 5800 Pleven, Bulgaria
  • Article Number: 34
    |
    Published online on: January 20, 2026
       https://doi.org/10.3892/br.2026.2107
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Abstract

Giant congenital melanocytic nevi (GCMN) are rare pigmented skin lesions present at birth that carry an increased risk of malignant melanoma and neurocutaneous melanosis. Early diagnosis and long‑term follow‑up care are essential for high‑risk patients. The combination of modern imaging techniques with genetic testing can enable a more comprehensive risk assessment. The present case describes a 55‑year‑old woman with a bathing‑trunk‑type GCMN and >30 additional nevi. The patient was monitored using total body mapping combined with artificial intelligence (AI)‑assisted dermoscopy (MoleAnalyzer Pro; FotoFinder Systems GmbH). Due to suspicious features, several lesions were surgically excised. Histopathology revealed a rare plexiform melanocytic schwannoma with low proliferative activity, showing immunopositivity for S100 protein and SOX10, with focal expression of Melan‑A (MART‑1). Germline testing by next‑generation sequencing identified two high‑risk melanocortin 1 receptor (MC1R) variants, p.Arg151Cys and p.Arg160Trp, in compound heterozygous state, both associated with melanoma susceptibility. No pathogenic variants were detected in NRAS or BRAF. The present case highlighted the integrative value of AI‑assisted dermoscopy, histopathology, and genetic profiling in the surveillance of patients with GCMN. Compound heterozygosity for MC1R high‑risk alleles may explain the extensive nevus burden and support intensified surveillance. Personalized follow‑up strategies guided by advanced imaging and genomics can improve early detection and prevention of melanoma.

View Figures

Figure 1

Cutaneous findings in the patient with
extensive congenital melanocytic nevi. (A) Multiple pigmented nevi
involving the upper and lower back. Of note the central
hyperpigmented plaque with thickened skin and irregular borders.
(B) Extension of the pigmented lesion over the gluteal region and
posterior thighs. Lichenification and verrucous appearance are
present. (C) Distribution of satellite nevi over the lower legs,
showing sharply demarcated pigmented macules and plaques.

Figure 2

Histopathological evaluation of a
pigmented skin lesion (hematoxylin and eosin staining; x200
magnification). Moderately cellular lesion located in the dermis,
composed of spindle-shaped melanocytes with bland nuclear features.
There is no significant mitotic activity or atypia.

Figure 3

Immunohistochemical profile of the
lesion. (A) Ki-67 showed very low proliferative index. (B) Diffuse
nuclear and cytoplasmic positivity for S100 in the melanocytic
population. (C) Nuclear expression of SOX10 in the neoplastic
cells. (D) Focal positivity for HMB-45 predominantly in the
superficial dermis.

Figure 4

Genomic visualization of MC1R variant
using Integrative Genomics Viewer. Snapshot of next-generation
sequencing data aligned to the human genome (hg19), showing a
heterozygous variant in the MC1R gene. The base substitution is
visualized as a T peak in both forward and reverse reads. MC1R,
melanocortin 1 receptor.
View References

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Copy and paste a formatted citation
Spandidos Publications style
Vasilev P, Yordanova I, Popovska S and Kamburova Z: <p>Personalized surveillance in giant congenital melanocytic nevus, including the role of AI, histopathology and MC1R genotyping: A case report</p>. Biomed Rep 24: 34, 2026.
APA
Vasilev, P., Yordanova, I., Popovska, S., & Kamburova, Z. (2026). <p>Personalized surveillance in giant congenital melanocytic nevus, including the role of AI, histopathology and MC1R genotyping: A case report</p>. Biomedical Reports, 24, 34. https://doi.org/10.3892/br.2026.2107
MLA
Vasilev, P., Yordanova, I., Popovska, S., Kamburova, Z."<p>Personalized surveillance in giant congenital melanocytic nevus, including the role of AI, histopathology and MC1R genotyping: A case report</p>". Biomedical Reports 24.3 (2026): 34.
Chicago
Vasilev, P., Yordanova, I., Popovska, S., Kamburova, Z."<p>Personalized surveillance in giant congenital melanocytic nevus, including the role of AI, histopathology and MC1R genotyping: A case report</p>". Biomedical Reports 24, no. 3 (2026): 34. https://doi.org/10.3892/br.2026.2107
Copy and paste a formatted citation
x
Spandidos Publications style
Vasilev P, Yordanova I, Popovska S and Kamburova Z: <p>Personalized surveillance in giant congenital melanocytic nevus, including the role of AI, histopathology and MC1R genotyping: A case report</p>. Biomed Rep 24: 34, 2026.
APA
Vasilev, P., Yordanova, I., Popovska, S., & Kamburova, Z. (2026). <p>Personalized surveillance in giant congenital melanocytic nevus, including the role of AI, histopathology and MC1R genotyping: A case report</p>. Biomedical Reports, 24, 34. https://doi.org/10.3892/br.2026.2107
MLA
Vasilev, P., Yordanova, I., Popovska, S., Kamburova, Z."<p>Personalized surveillance in giant congenital melanocytic nevus, including the role of AI, histopathology and MC1R genotyping: A case report</p>". Biomedical Reports 24.3 (2026): 34.
Chicago
Vasilev, P., Yordanova, I., Popovska, S., Kamburova, Z."<p>Personalized surveillance in giant congenital melanocytic nevus, including the role of AI, histopathology and MC1R genotyping: A case report</p>". Biomedical Reports 24, no. 3 (2026): 34. https://doi.org/10.3892/br.2026.2107
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