# Case Report: A case of superficial spreading malignant melanoma with sentinel lymph node metastasis misdiagnosed as “pigmented nevus”

**Authors:** Xiaolin Bu, Jing Guo, Liwei Feng, Yeqiang Liu

PMC · DOI: 10.3389/fimmu.2026.1709633 · Frontiers in Immunology · 2026-02-17

## TL;DR

A woman's melanoma was initially misdiagnosed as a benign skin growth, but later confirmed as cancer with lymph node spread.

## Contribution

This case highlights diagnostic challenges in melanoma and the importance of molecular testing for accurate diagnosis.

## Key findings

- The lesion was initially diagnosed as atypical Spitz nevus but later confirmed as superficial spreading melanoma.
- Molecular testing identified TERT promoter, BRAF, and CDKN2A/B mutations in the tumor.
- Melanoma metastasis was found in 10 of 14 lymph nodes during dissection.

## Abstract

A 45-year-old woman presented with a black hemispherical plaque on her right lower leg that had developed three years ago without an obvious cause. The lesion gradually enlarged without pain or pruritus. After excision, histopathological examination revealed atypical Spitz nevus. At a dermatology specialty hospital, pathological review suggested superficial spreading melanoma. Immunohistochemistry revealed diffusely positivity for S100, Melan-A, Ki-67, P16, Sox-10 and HMB45. Molecular pathological testing revealed mutations in the TERT promoter and BRAF and CDKN2A/B genes. Extended tumor resection with an intraoperative sentinel lymph node biopsy identified SN2/2. Dissection of the right inguinal lymph nodes revealed melanoma metastasis in 10 of 14 lymph nodes, with Immunolohistochemistry showing diffusely positivity for Sox-10 and Melan-A. The final diagnosis was superficially spreading malignant melanoma with regional lymph node metastasis. Postoperative adjuvant therapy included systemic chemotherapy and targeted therapy. No recurrence was observed during the 2-year follow-up period.

## Linked entities

- **Genes:** TERT (telomerase reverse transcriptase) [NCBI Gene 7015], BRAF (B-Raf proto-oncogene, serine/threonine kinase) [NCBI Gene 673], cdkn2a/b (cyclin-dependent kinase inhibitor 2A/B (p15, inhibits CDK4)) [NCBI Gene 100329528]
- **Diseases:** melanoma (MONDO:0005105), superficial spreading melanoma (MONDO:0020638)

## Full-text entities

- **Genes:** NTRK2 (neurotrophic receptor tyrosine kinase 2) [NCBI Gene 4915] {aka DEE58, EIEE58, GP145-TrkB, OBHD, TRKB, trk-B}, BRAF (B-Raf proto-oncogene, serine/threonine kinase) [NCBI Gene 673] {aka B-RAF1, B-raf, BRAF-1, BRAF1, NS7, RAFB1}, CDKN2A (cyclin dependent kinase inhibitor 2A) [NCBI Gene 1029] {aka ARF, CAI2, CDK4I, CDKN2, CMM2, INK4}, SOX10 (SRY-box transcription factor 10) [NCBI Gene 6663] {aka DOM, PCWH, SOX-10, WS2E, WS4, WS4C}, SPATA2 (spermatogenesis associated 2) [NCBI Gene 9825] {aka PD1, PPP1R145, tamo}, MLANA (melan-A) [NCBI Gene 2315] {aka MART-1, MART1}, SLC38A5 (solute carrier family 38 member 5) [NCBI Gene 92745] {aka JM24, SN2, SNAT5, pp7194}, LTK (leukocyte receptor tyrosine kinase) [NCBI Gene 4058] {aka TYK1}, S100A1 (S100 calcium binding protein A1) [NCBI Gene 6271] {aka S100, S100-alpha, S100A}, ROS1 (ROS proto-oncogene 1, receptor tyrosine kinase) [NCBI Gene 6098] {aka MCF3, ROS, c-ros-1}, NTRK1 (neurotrophic receptor tyrosine kinase 1) [NCBI Gene 4914] {aka MTC, TRK, TRK1, TRKA, Trk-A, p140-TrkA}, TERT (telomerase reverse transcriptase) [NCBI Gene 7015] {aka CMM9, DKCA2, DKCB4, EST2, PFBMFT1, TCS1}
- **Diseases:** pneumonitis (MESH:D011014), skin cancer (MESH:D012878), pT2aN3M0, IIIC (MESH:C566891), pruritus (MESH:D011537), pain (MESH:D010146), Skin Disease (MESH:D012871), trauma (MESH:D014947), pigmented nevus (MESH:D009508), Malignant melanoma (MESH:D008545), benign pigmented lesions (MESH:D010859), AD (MESH:D000544), Tumor (MESH:D009369), hepatitis (MESH:D056486), Cutaneous malignant melanoma (MESH:C562393), lymph node metastasis (MESH:D008207), epidermal hyperplasia (MESH:D006965), Spitz (MESH:D018332), melanoma metastases (MESH:D009362), toxicity (MESH:D064420), nevus (MESH:D009506), colitis (MESH:D003092)
- **Chemicals:** Trametinib (MESH:C560077), Dabrafenib (MESH:C561627), melanin (MESH:D008543), Dabrafenib mesylate (-), H&amp;E (MESH:D006371)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** V600E

## Full text

_Full body text omitted from this summary view._ Fetch the complete paper as Markdown: https://tomesphere.com/paper/PMC12953533/full.md

## Figures

5 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12953533/full.md

## References

48 references — full list in the complete paper: https://tomesphere.com/paper/PMC12953533/full.md

---
Source: https://tomesphere.com/paper/PMC12953533