Published in:
01-01-2019 | Correspondence
ETMR-like infantile cerebellar embryonal tumors in the extended morphologic spectrum of DICER1-related tumors
Published in: Acta Neuropathologica | Issue 1/2019
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We report for the first time DICER1 mutations in two infantile cerebellar embryonal tumors not otherwise specified (NOS). Two girls, aged 11 months (case 1) and 8 months (case 2) presented with psychomotor delay. Both MRIs showed a midline posterior fossa tumor (Fig. 1a, b). After gross total resection of the tumor, case 1 was treated with two cycles of etoposide/carboplatin. The controlled MRI showed spinal and leptomeningeal metastasis. After a subtotal resection, case 2 was treated according to institutional protocol for infant with high-risk CNS PNET. MRI showed an increase of the residual mass during maintenance chemotherapy.
Fig. 1
For case 1 (a) and case 2 (b), MRI showed a voluminous midline posterior fossa mass, enhancing after contrast injection. Array CGH using agilent 180 k chip showed chromosome 2 gain, 4q (92, 22–93, 43 Mb) segmental gain and 7q (109, 41–158, 58 Mb) segmental loss in case 1 (c), and chromosome 2 gain in case 2 (d). t-SNE analysis (e). H&E showed small undifferentiated monotonous cells with numerous mitoses and apoptotic bodies (f case1, g: case 2) and a biphasic histological pattern with areas of small embryonal perivascular cells and neuropil-like areas (h case 1, i case 2). In case 1, multilayered rosettes (left) and true rosettes (arrows) were observed (j). Foci of chondroid (left) and rhabdomyoblastic (right) differentiation were seen in case 2. Detail: desmin immunostaining (k). Strong LIN28A immunostaining: case 1 (l), case 2 (m)
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