Pitfalls in Pediatric Supratentorial ZFTA Fusion-Positive Ependymoma: A Clinicopathological Study of 17 Cases.

Authors

Lian Yang, Lusheng Li, Bin Zou, Jingxian Wu, Yanghao Hou, Jin Zhu

Published in

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society. Pages 10935266261484282. Sep 02, 2026. Epub Sep 02, 2026.

Abstract

Supratentorial ependymoma with ZFTA fusion represents a molecularly defined entity with characteristic but heterogeneous histopathological features. In routine diagnostic practice, morphologic diversity and limitations of individual molecular assays may lead to diagnostic uncertainty. This study aimed to systematically characterize the clinicopathological spectrum of pediatric supratentorial ZFTA fusion-positive ependymomas and to highlight potential diagnostic pitfalls.
Seventeen pediatric cases with confirmed ZFTA fusion were retrospectively analyzed. Clinical, radiological, histopathological, immunohistochemical (including L1CAM, p65/RELA, etc.), and molecular findings (FISH, NGS, DNA methylation profiling), along with follow-up data, were evaluated.
The median patient age was 7 years (range, 1-14 years). Non-classical morphologic patterns (embryonal-like, sieve-like, ependymoblastic-like) occurred in 8/17 cases (47.1%), mostly in WHO grade 3 tumors. Crucially, all 8 cases retained focal conventional ependymal features upon thorough sampling and maintained diffuse L1CAM positivity, nuclear p65/RELA, and dot-like EMA positivity in deceptive areas. Molecularly, FISH yielded a 28.6% (4/14) false-negative rate in high-grade cases, and NGS showed 1 false-negative result (7.1%), rescued by DNA methylation profiling. Overall median follow-up was 48 months (range, 6-68). WHO grade 2 tumors had zero recurrence (median follow-up, 60 months), whereas WHO grade 3 tumors showed median time to recurrence of 6 months (range, 3-12).
Pediatric ZFTA fusion-positive ependymomas exhibit morphologic divergence and false-negative molecular risks. Extensive tissue sampling, integrated IHC surrogate panels (p65/L1CAM/GFAP/EMA), and complementary molecular platforms are essential for accurate diagnosis.

PMID:
42682089
Bibliographic data and abstract were imported from PubMed on 02 Sep 2026.

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