Key result
Next-generation sequencing identifies a novel CD63-PRKCB fusion in a case of pigmented epithelioid melanocytoma.
Why the study?
Pigmented epithelioid melanocytoma has considerable histologic overlap with other melanocytic neoplasms, and next-generation sequencing is valuable for identifying primary drivers and differentiating these tumors.
Case Report (n=1)
Identifies a novel CD63-PRKCB fusion as a potential driver in pigmented epithelioid melanocytoma.
Should not yet change practice; hypothesis-generating for CD63-PRKCB fusion in pigmented epithelioid melanocytoma.
Pigmented epithelioid melanocytoma (PEM) is an intermediate-grade melanocytic tumor with considerable histologic overlap with other melanocytic neoplasms such as epithelioid blue nevus (EBN), which is associated with the neoplastic syndrome Carney complex (CC). Next-generation sequencing is a valuable tool for identifying the primary drivers of melanocytic neoplasms and differentiating them from one another. While germline variants in the protein kinase cAMP-dependent regulatory type 1 alpha (PRKAR1A) gene have been associated with EBN and CC, fusions in protein kinase C-alpha (PRKCA) have been shown as sporadic drivers of PEM. Herein, we report the diagnosis and workup of a case of pigmented epithelioid melanocytoma with a novel protein kinase C-beta (PRKCB) fusion.
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Scollan et al. (2022) conducted a case report in Pigmented epithelioid melanocytoma (n=1). CD63-PRKCB fusion was evaluated on Identification of genetic drivers. Next-generation sequencing identified a novel CD63-PRKCB fusion in a case of pigmented epithelioid melanocytoma, expanding the known genetic drivers of this tumor.
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