Details

Autor(en) / Beteiligte

• Silva-Clavería, Francisca
• Álvarez-Muñoz, Alejandro
• Ferrándiz, Lara
• Fernández-Orland, Almudena
• Conde-Martin, Antonio Felix
• Moreno-Ramírez, David
• Ríos-Martín, Juan J.

Titel

Difficult to Diagnose Cutaneous Melanoma in a Patient with BAP1 Tumor Predisposition Syndrome

Ist Teil von

• International journal of surgical pathology, 2023-10, Vol.31 (7), p.1398-1402

Ort / Verlag

Los Angeles, CA: SAGE Publications

Erscheinungsjahr

2023

Quelle

MEDLINE

Beschreibungen/Notizen

• BRCA1-associated protein 1 (BAP1)-inactivated melanomas can occur sporadically or in germline contexts, particularly in recently recognized BAP1-tumor predisposition syndrome. Diagnosis represents a clinical and histopathological challenge, requiring comprehensive analysis of morphology and sometimes molecular analysis in addition to immunohistochemistry. We report a BAP1-inactivated cutaneous melanoma initially diagnosed as an atypical Spitz tumor on the auricle in a patient with BAP1-tumor predisposition syndrome. Immunohistochemistry, fluorescence in situ hybridization, and comparative genomic hybridization allowed diagnosis. Cutaneous BAP1-inactivated melanocytic tumors, previously classified as atypical Spitz Nevi, may have a dermal mitotic activity that can resemble melanoma and on the other hand, atypical Spitz tumors are sometimes difficult to differentiate from BAP1-inactivated melanoma. Specific criteria, requiring molecular diagnosis have been proposed in order to support melanoma diagnosis.