Molecular Diagnostics and Clinicopathologic Spectrum of Kinase Fusion-Positive Spindle Cell Neoplasms of the Oral and Maxillofacial Region: A Systematic Review and Pooled Patient-Level Analysis.
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PURPOSE: To characterize the clinicopathologic and molecular spectrum of kinase fusion-positive spindle cell neoplasms arising in the oral and maxillofacial region and to evaluate the patient-level contribution of molecular testing to diagnosis, classification, and therapeutic stratification. METHODS: A systematic review was conducted according to PRISMA 2020. PubMed/MEDLINE, Embase, and Scopus were searched from inception through July 31, 2026, supplemented by Google Scholar screening, reference checking, and citation tracking. Eligible reports described primary oral or maxillofacial spindle cell neoplasms harboring oncogenic kinase fusions or rearrangements. Overlapping publications were reconciled through patient-level deduplication. Clinicopathologic, immunophenotypic, molecular, diagnostic, treatment, and outcome data were synthesized descriptively. Molecular evidence was categorized into three prespecified tiers, and methodological quality was assessed using design-appropriate Joanna Briggs Institute tools. RESULTS: Fifteen eligible reports contained 22 report-level tumor occurrences, which were reduced to 15 unique patients after deduplication. Median age was 8 years (range, neonatal period-65 years), and 9 patients (60.0%) were pediatric. Tumors involved oral/superficial mucosal-perioral sites in nine patients, deep maxillofacial soft tissues in three, and intraosseous sites in three. Alterations involved NTRK1 or NTRK3 in 10/15 patients (66.7%), RAF1 in 3/15 (20.0%), and MET and BRAF in one each. A partner-defined fusion was identified in 11/15 tumors; 11 were classified as Tier A, three as Tier B, and one as Tier C. A specific diagnostic or therapeutic contribution of molecular testing could be reconstructed in 7/15 patients, most often involving diagnostic refinement/reclassification or diagnostic establishment. Molecularly matched kinase inhibition was documented in two patients; one LMNA::NTRK1-positive maxillary tumor showed a rapid and durable response to larotrectinib. CONCLUSIONS: Oral and maxillofacial kinase fusion-positive spindle cell neoplasms form a rare, morphologically and immunophenotypically heterogeneous spectrum extending beyond NTRK alterations. Integrated molecular testing can refine difficult diagnoses and, in selected patients, identify actionable kinase drivers. However, the small and molecularly selected evidence base precludes population prevalence estimates or comparative conclusions regarding treatment effects.