EIF3E::RSPO2 Fusion in Metastatic Pancreatic Ductal Adenocarcinoma: A Clinical Case Report Suggesting a Putative KRAS-Independent Molecular Profile

Pancreatic ductal adenocarcinoma (PDAC) is molecularly characterized by near-universal KRAS mutations and recurrent alterations in TP53, CDKN2A, and SMAD4. Gene fusions are exceptionally rare and have not been established as canonical drivers of PDAC. We report a case of metastatic PDAC harboring an EIF3E::RSPO2 gene fusion in the absence of detectable KRAS or other common driver mutations. A 48-year-old female was diagnosed with stage IV PDAC via endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA). Comprehensive molecular profiling using the Oncomine Precision Assay GX5 revealed no pathogenic single-nucleotide variants, indels, or copy number variations. However, an EIF3E::RSPO2 fusion, predicted to be a gain-of-function alteration, was identified as the sole genomic alteration. Immunohistochemistry showed retained mismatch repair protein expression and preserved SMAD4. Although RSPO2 fusions have been described in preclinical colorectal cancer models and are well-established activators of the Wnt signaling pathway in this setting, their clinical occurrence in PDAC remains poorly documented. This finding indicates a KRAS wild-type tumor with a potential KRAS-independent oncogenic mechanism that may involve aberrant Wnt/β-catenin signaling and raises the possibility of a rare, biologically distinct PDAC subset. Comprehensive genomic profiling in advanced PDAC may uncover actionable non-canonical drivers with therapeutic implications.

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Publication Details

Journal
International Journal of Molecular Sciences
Published
2026-06-24
DOI
https://doi.org/10.3390/ijms27135679
Primary Topic
Pancreatic and Hepatic Oncology Research
Type
article
Field-Weighted Citation Impact
0.00

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article

EIF3E::RSPO2 Fusion in Metastatic Pancreatic Ductal Adenocarcinoma: A Clinical Case Report Suggesting a Putative KRAS-Independent Molecular Profile

M de Salas Sancho, Juan Carlos Montero, José María Sayagués, María Belén Rivas et al.
International Journal of Molecular Sciences
Pancreatic and Hepatic Oncology Research
article

EIF3E::RSPO2 Fusion in Metastatic Pancreatic Ductal Adenocarcinoma: A Clinical Case Report Suggesting a Putative KRAS-Independent Molecular Profile

M de Salas Sancho, Juan Carlos Montero, José María Sayagués, María Belén Rivas, Diego Bueno-Sacristán, Mar Abad, Ana María Moreno, María Teresa Alonso-Márquez
article en

Abstract

Pancreatic ductal adenocarcinoma (PDAC) is molecularly characterized by near-universal KRAS mutations and recurrent alterations in TP53, CDKN2A, and SMAD4. Gene fusions are exceptionally rare and have not been established as canonical drivers of PDAC. We report a case of metastatic PDAC harboring an EIF3E::RSPO2 gene fusion in the absence of detectable KRAS or other common driver mutations. A 48-year-old female was diagnosed with stage IV PDAC via endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA). Comprehensive molecular profiling using the Oncomine Precision Assay GX5 revealed no pathogenic single-nucleotide variants, indels, or copy number variations. However, an EIF3E::RSPO2 fusion, predicted to be a gain-of-function alteration, was identified as the sole genomic alteration. Immunohistochemistry showed retained mismatch repair protein expression and preserved SMAD4. Although RSPO2 fusions have been described in preclinical colorectal cancer models and are well-established activators of the Wnt signaling pathway in this setting, their clinical occurrence in PDAC remains poorly documented. This finding indicates a KRAS wild-type tumor with a potential KRAS-independent oncogenic mechanism that may involve aberrant Wnt/β-catenin signaling and raises the possibility of a rare, biologically distinct PDAC subset. Comprehensive genomic profiling in advanced PDAC may uncover actionable non-canonical drivers with therapeutic implications.

International Journal of Molecular SciencesVol. 27(13)
Universidad de Salamanca (ES), Instituto de Investigación Biomédica de Salamanca (ES), Centro de Investigación Biomédica en Red de Cáncer (ES)
European Commission, Instituto de Salud Carlos III
Good health and well-being
Openalex Percentile: Top 8%
Pancreatic and Hepatic Oncology Research
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