RELA fusion-positive ependymoma accompanied by extensive desmoplasia: a case report
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CASE REPORT
RELA fusion‑positive ependymoma accompanied by extensive desmoplasia: a case report Tsuyoshi Fukushima1 · Takashi Ueda2 · Junko Hirato3 · Hiroaki Kataoka1 Received: 26 March 2020 / Accepted: 27 July 2020 © The Japan Society of Brain Tumor Pathology 2020
Abstract We report a case of 33-year-old Japanese male who presented with a headache and visual disturbances. Magnetic resonance imaging revealed a large tumor in the left frontal lobe, measuring 7 cm in diameter, which was diagnosed as supratentorial anaplastic ependymoma accompanied by extensive desmoplasia. The patient underwent a gross total resection. Histologically, the tumor cells had oval or short, spindle-shaped nuclei, and proliferating cells in perivascular pseudorosettes with anucleate zones and mitotic figures. Desmoplasia with abundant collagen fibers among the tumor cells was detected at numerous sites, and perinuclear dot- or ring-like immunoreactivity for epithelial membrane antigen was identified. Five years and six months after the initial procedure, a small recurrent tumor was identified at the removal site. The patient underwent a second total resection. The histology of the resected tumor showed decreased collagen production and more apparent anaplastic features as compared to those of the initial tumor. In addition to the histological findings, molecular examinations revealed ependymoma, RELA fusion positive. Although not commonly observed, this case suggests that desmoplasia could be associated with ependymomas, including RELA fusion-positive variant. Moreover, our findings indicate that high-grade ependymoma requires careful, long-term follow-up even if gross total resection is performed. Keywords RELA fusion-positive ependymoma · Anaplastic ependymoma · Desmoplasia · Recurrence
Introduction Ependymoma and anaplastic ependymoma are intracranial or spinal gliomas correspond histologically to WHO grades II and III, respectively [1]. They are typically circumscribed lesions that are characterized with uniform small cells with round nuclei in a fibrillary matrix, perivascular pseudorosettes with anucleate zones, ependymal rosettes, and tubular canals. In addition to these features, anaplastic Electronic supplementary material The online version of this article (https://doi.org/10.1007/s10014-020-00376-w) contains supplementary material, which is available to authorized users. * Tsuyoshi Fukushima [email protected]‑u.ac.jp 1
Department of Pathology, Faculty of Medicine, University of Miyazaki, 5200 Kihara, Kiyotake, Miyazaki 889‑1692, Japan
2
Ueda Neurosurgical Clinic, Miyazaki, Japan
3
Department of Pathology, Public Tomioka General Hospital, Gunma, Japan
ependymomas (WHO grade III) include high nuclear-tocytoplasmic ratios, increased mitotic counts, hypercellularity, microvascular proliferation, and necrosis. Ependymomas, notably anaplastic ependymomas, may lack the characteristic ependymal rosettes and tubular canals; as such, the perivascular pseudorosette is one of the most important findings for diag
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