Novel dual gene fusions identified in a late pulmonary metastasis of an infantile fibrosarcoma-like tumor

Karen Schoedel; Shaymaa Hegazy; Megan L Zilla; Jason Chang; Benjamin A Nacev

doi:10.1007/s00428-024-03882-w

Novel dual gene fusions identified in a late pulmonary metastasis of an infantile fibrosarcoma-like tumor

Virchows Arch. 2024 Jul 30. doi: 10.1007/s00428-024-03882-w. Online ahead of print.

Authors

Karen Schoedel¹, Shaymaa Hegazy², Megan L Zilla², Jason Chang³, Benjamin A Nacev^{2

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Affiliations

¹ Department of Pathology, University of Pittsburgh, UPMC Presbyterian C602, 200 Lothrop St., Pittsburgh, PA, 15213, USA. [email protected].
² Department of Pathology, University of Pittsburgh, UPMC Presbyterian C602, 200 Lothrop St., Pittsburgh, PA, 15213, USA.
³ Memorial Sloan Kettering Cancer Center, New York, NY, USA.
⁴ Department of Medicine, University of Pittsburgh, Pittsburgh, PA, USA.
⁵ UPMC Hillman Cancer Center, Pittsburgh, PA, USA.

PMID: 39078429
DOI: 10.1007/s00428-024-03882-w

Abstract

The list of potential gene fusions involving sarcomas, and particularly infantile fibrosarcoma-like tumors, continues to expand. The receptor tyrosine kinases are dysregulated in several tumor types, underscoring their roles in neoplasia. In this case presentation, we describe a pulmonary metastasis with two novel gene fusions (FKBP5::PRKCA and in-frame SEPT7::RAF1) occurring at least two decades after the primary tumor developed.

Keywords: Gene fusion; Infantile fibrosarcoma; Next generation sequencing.

Abstract

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