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Malignant blue nevus with lymph node metastases.

Jill Zyrek-Betts¹, Mark Micale, Angela Lineen

¹Department of Pathology, The University of Toledo Medical Center, Toledo, OH, USA.

Journal of Cutaneous Pathology

|November 3, 2007

Summary

This study details a rare metastatic malignant blue nevus case. Findings suggest a potential role for hOGG-1 DNA repair gene mutation and CD117 (c-kit) upregulation in its pathogenesis.

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Area of Science:

Dermatopathology
Oncology
Molecular Genetics

Background:

Malignant blue nevi are rare melanomas arising from cellular blue nevi.
They are characterized by atypical mitoses, necrosis, and nuclear pleomorphism.
Malignant blue nevus is sometimes misdiagnosed as melanoma.

Observation:

A patient with metastatic malignant blue nevus was studied.
Histopathology revealed a malignant blue nevus within a combined intradermal and cellular blue nevus.
Immunohistochemical and molecular analyses were performed on the neoplasm and metastases.

Findings:

The malignant blue nevus exhibited mutation of the hOGG-1 DNA repair gene.
CD117 (c-kit) staining showed decreased expression in the primary tumor but upregulation in lymph node metastases.
Loss of heterozygosity analysis at the hOGG-1 locus revealed distinct allelic patterns between the melanoma and control specimens.

Implications:

This case highlights the hOGG-1 DNA repair gene mutation in malignant blue nevus with metastasis.
CD117 (c-kit) upregulation in metastases differs from typical metastatic melanomas.
Further research is needed to clarify the roles of hOGG-1 mutation and c-kit upregulation in melanocytic lesions.