Metastatic Basal Cell Carcinoma With Unusual Molecular Genetics Findings

Area of Science:

• Oncology
• Dermatology
• Molecular Pathology

Background:

• Basal cell carcinoma (BCC) rarely metastasizes, typically to regional lymph nodes.
• Head and neck BCCs are known to spread to cervical lymph nodes.
• Metastatic BCC presents significant diagnostic and therapeutic challenges.

Purpose of the Study:

• To report a rare case of basal cell carcinoma with cervical lymph node metastasis.
• To describe the diagnostic and management complexities of this presentation.
• To highlight unique molecular findings in a metastatic BCC case.

Main Methods:

• Case presentation of a slow-growing scalp BCC with level V cervical lymph node metastasis.
• Surgical management including lesion excision and neck dissection.
• Adjuvant chemotherapy with Vismodegib and molecular pathology analysis.
• Post-operative imaging and multi-disciplinary team (MDT) follow-up.

Main Results:

• Diagnosis of BCC with pre-existing metastasis to level V cervical lymph nodes.
• Identification of HMGA2-CHMP1A gene fusion and CDKN2B PTC mutation.
• Post-operative finding of a potentially inflammatory nodule in level IIB lymph nodes.
• Ongoing MDT evaluation for level IIB lymph nodes.

Conclusions:

• Metastatic BCC, though rare, necessitates thorough diagnostic evaluation and tailored treatment.
• Unique molecular profiles may be associated with aggressive BCC.
• Close follow-up is crucial for managing potential recurrence or metastasis in challenging BCC cases.