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Case Reports
. 2017 Apr;133(4):661-663.
doi: 10.1007/s00401-017-1689-7. Epub 2017 Feb 25.

Genetic confirmation that ependymoma can arise as part of multiple endocrine neoplasia type 1 (MEN1) syndrome

Areli K Cuevas-Ocampo  1 , Andrew W Bollen  1 , Benjamin Goode  1 , Kristian W Pajtler  2   3 , Lukas Chavez  2   4 , Tanvi Sharma  2 , Sun-Chuan Dai  5 , Michael McDermott  6 , Arie Perry  1   6 , Andrey Korshunov  4   7   8 , David A Solomon  9   10
Affiliations
Case Reports

Genetic confirmation that ependymoma can arise as part of multiple endocrine neoplasia type 1 (MEN1) syndrome

Areli K Cuevas-Ocampo et al. Acta Neuropathol. 2017 Apr.
No abstract available

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Figures

Figure 1
Figure 1
Radiographic, histologic, and genetic features of an ependymoma in a 33 year old man with MEN1 syndrome. a Sagittal T2-weighted fluid-attenuated inversion recovery MRI demonstrating an exophytic, solid and cystic mass arising from the cervicomedullary junction with associated hyperintensity in the superior cervical cord. b H&E stained section of the tumor demonstrating a solid ependymal neoplasm with perivascular pseudorosettes. c Immunostain for EMA demonstrating paranuclear dot-like positivity in tumor cells. d Next-generation sequencing reads for the MEN1 gene demonstrating a 2 base pair deletion (c.563_564delGG, p.P188fs based on transcript NM_130799) present in approximately half of the reads in DNA extracted from the peripheral blood and nearly all of the reads in DNA extracted from the ependymoma. e Genome-wide copy number plot for the tumor demonstrating loss of chromosome 11, which includes the remaining wild-type MEN1 allele at 11q13. Clonal losses of chromosomes 10 and 11 are seen suggesting that they were early events in tumor development, and additional subclonal losses of chromosomes 3, 8, 14, 16, 17, and 22 are also seen that likely occurred later during tumor progression in only a subset of the ependymoma cells.
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