A PRKCA-Fused Blue Melanocytoma Expressing a Truncated ALK Isoform.

J Cutan PatholJul 10, 2026 (epub)
Case ReportPathology (Anatomic & Clinical)DermatologyPediatrics

Hadrien Reboul, Isabelle Thibaut, Philippe Galinier et al.

✦ AI-curated · Sources linked

Case in brief

A 13-year-old girl presented with a dome-shaped skin lesion on the tibia. The lesion was diagnosed as a blue melanocytoma and showed immunostaining with the ALK1A4 antibody. Targeted RNA sequencing identified a PRKCA fusion but no ALK rearrangement. Further investigation detected ALK alternative transcripts generated by alternative transcription initiation, indicating expression of a truncated ALK isoform.

What made this case unusual

The tumor expressed a truncated ALK isoform despite lacking an ALK rearrangement. The report notes that this isoform had been identified in a small subset of melanomas but had not previously been documented in Spitz or blue tumors.

Diagnostic / clinical pearl

ALK immunostaining in a melanocytic tumor does not necessarily indicate an ALK rearrangement; alternative transcription initiation can produce a truncated ALK isoform.

Source

PubMed · PMID 42432291

Published in J Cutan Pathol. This summary was written by xxcode from the publication's abstract and metadata. It is not peer reviewed and is not a substitute for the original article. For clinical decisions, review the original publication.

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