Targeted Therapy in a Young Adult With a Novel Epithelioid Tumor Driven by a PRRC2B-ALK Fusion

Area of Science:

• Oncology
• Pathology
• Molecular Biology

Background:

• Epithelioid tumors can present with challenging diagnostic features.
• Omental tumors are rare and require precise molecular characterization for effective treatment.

Observation:

• An 18-year-old female presented with an unusual omental epithelioid tumor.
• Atypical pathological features complicated the initial diagnosis.
• Tumor cells expressed CD30, and an ALK rearrangement was detected.

Findings:

• A novel PRRC2B-ALK fusion was identified in the tumor.
• The ALK rearrangement indicated a potential target for therapy.
• Despite initial response to targeted therapy, the patient did not survive.

Implications:

• This case highlights the importance of molecular profiling in diagnosing and treating rare tumors.
• Targeted therapy can be effective even in complex cases with novel actionable targets.
• Further research into PRRC2B-ALK fusions and CD30-expressing tumors is warranted.