Juvenile xanthogranuloma mimicking malignancy at uncommon sites in children: five cases and a systematic review.
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INTRODUCTION: Juvenile xanthogranuloma (JXG) typically presents in childhood as self-limited cutaneous lesions, but extracutaneous involvement is uncommon and may raise concern for malignancy. Although previous reviews have summarized the clinical spectrum of extracutaneous JXG, to our knowledge no study has systematically applied predefined criteria to quantify malignancy-mimicking presentations before histopathological diagnosis, or their diagnostic and management consequences, at the patient level. METHODS: We retrospectively analyzed five pediatric patients with JXG at uncommon anatomical sites and conducted a PRISMA 2020-guided systematic review of PubMed/MEDLINE, Embase, and CNKI (January 2006-September 2026; no language restriction). RESULTS: The five cases from our institution (three boys and two girls; age range, 4-12 years) involved the chest wall/pleural cavity, spinal epidural space, Meckel's cave, kidney, and pineal region. All lesions were mass-forming; three were initially radiologically suspicious for malignancy, whereas two showed other tumor-like growth patterns. Histopathology demonstrated histiocytic proliferations expressing CD68 and/or CD163; CD1a and langerin were negative in the cases tested. Targeted sequencing detected a PIK3CA p.H1047R variant in one case (variant allele frequency, 1.96%); given its low allele frequency and the absence of orthogonal validation, this finding was interpreted cautiously as supportive rather than diagnostic. After linking reports at the patient level, the systematic review included 150 reports corresponding to 147 unique patients. A malignancy-mimicking presentation before histopathological diagnosis was documented in 15 of 147 patients (10.2%; in sensitivity analysis, 17/147 [11.6%]). Diagnostic or management consequences were documented in 11 of 15 patients (73.3%), including enucleation for suspected retinoblastoma. DISCUSSION: Major diagnostic challenges included unusual anatomical sites, tumor-like imaging findings, variable histopathologic features, and overlap with other histiocytic disorders. Diagnosis requires integration of clinical, radiological, pathological, immunophenotypic, and selective molecular data. Molecular findings are supportive rather than diagnostic, and no known molecular alteration is specific to JXG. We propose a practical diagnostic framework for distinguishing uncommon-site JXG from malignancy and other tumor-like processes. This framework is based on evidence from small, heterogeneous case series and institutional experience and is not intended to serve as an evidence-based management standard.