Nipple Melanoma Misdiagnosis Highlights Challenges - AMJ

This site is intended for healthcare professionals

Rare Nipple Melanoma Case Exposes Diagnostic Challenges

Laboratory scientist examining a sample while conducting diagnostic testing, illustrating the role of laboratory analysis in melanoma diagnosis.

Key Summary:

  • Rare nipple melanoma was initially misdiagnosed as undifferentiated sarcoma.
  • Heterogeneous tumor markers complicated diagnosis despite subsequent melanoma confirmation.
  • The patient remained disease-free 26 months after surgery without adjuvant treatment.

A RARE nipple melanoma case highlights how atypical tumor findings can lead to misdiagnosis and potentially unnecessary surgery.

Rare Nipple Melanoma Initially Mistaken for Sarcoma

A 93-year-old woman with an 8-month history of a bleeding, ulcerated lesion on her left nipple was initially diagnosed with undifferentiated sarcoma before postoperative examination revealed invasive melanoma.

The lesion measured approximately 3–4 cm and appeared as a firm, violaceous, protruding mass. Breast imaging identified a suspicious 44 × 35 mm nipple mass and enlarged axillary lymph nodes, although fine-needle aspiration showed no malignant cells. CT imaging found no distant disease.

An initial core biopsy suggested undifferentiated sarcoma, prompting modified radical mastectomy and axillary lymph node dissection.

Immunohistochemistry Reveals Diagnostic Complexity

Further histopathological examination identified ulcerated invasive superficial spreading melanoma of the nipple-areolar complex, with a Breslow thickness of at least 60 mm and a mitotic rate of 7 mitoses/mm².

The tumor exhibited marked cellular variability and heterogeneous expression of melanocytic markers. Although the initial biopsy was negative for S100, subsequent immunohistochemistry demonstrated patchy positivity for S100, Melan-A, HMB45, PRAME, and tyrosinase.

These findings highlighted how limited tissue sampling can miss diagnostically important tumor regions, particularly in poorly differentiated malignancies.

All 15 dissected axillary lymph nodes were negative, establishing Stage IIC melanoma (pT4bN0M0), with clear surgical margins.

Surgical Management and Clinical Outcomes

Following multidisciplinary review, clinicians decided against adjuvant therapy, primarily considering the patient’s advanced age. At 26 months after diagnosis, she remained disease-free.

The case raises important questions about surgical management of nipple melanoma. Although mastectomy was performed based on the initial sarcoma diagnosis, the literature review found that more recent reports favor treating these lesions according to established cutaneous melanoma principles.

Wide local excision is generally preferred over mastectomy, which has not demonstrated a survival advantage. Sentinel lymph node biopsy also plays an important role in evaluating regional disease.

Recognizing Melanoma in Persistent Nipple Lesions

Primary nipple-areolar complex melanoma is exceptionally rare and can resemble Paget disease, breast carcinoma, or benign pigmented lesions.

The case emphasizes the importance of including melanoma in the differential diagnosis of persistent nipple abnormalities, regardless of patient sex.

Comprehensive histopathological assessment, appropriate biopsy selection, and expanded immunohistochemical testing may prevent diagnostic errors and guide less extensive surgical treatment.

Reference
Ortiz González A et al. Nipple melanoma: a case report and review of the literature. Case Rep Dermatol. 2026;18(1):594–605.

Featured Image: VStudio on Adobe Stock.

Featured Image: VStudio on Adobe Stock.

Author:

Each article is made available under the terms of the Creative Commons Attribution-Non Commercial 4.0 License.

Rate this content's potential impact on patient outcomes

Average rating 0 / 5. Vote count: 0

No votes so far! Be the first to rate this content.