Germ cell tumors with neuroglial differentiation do not show molecular features akin to their central nervous system counterpart: experience from extra-gynecological sites

Chatterjee, Debajyoti; Gude, Geethanjali; Samujh, Ram; Mete, Uttam; Radotra, Bishan Dass

doi:10.1007/s00428-022-03354-z

Cited by 1 publication

(2 citation statements)

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“…Other studies investigated for IDH1/IDH2 mutations in astrocytomas, C19MC amplification in embryonal tumors, and BRAF V600E mutations in pilocytic astrocytomas, but such alterations were not identified (4,8). Likewise, these genomic alterations were not detected in neuroectodermal tumors arising in teratomas from nongynecologic sites (17,18). This contrasts with the tumor described here which showed co-amplification of PDGFRA and KIT, along with a PDGFRA rearrangement, all of which are common in gliomas (19)(20)(21).…”

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Section: Discussionmentioning

confidence: 99%

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Diffuse Pediatric-type High-grade Glioma Arising in an Ovarian Mature Cystic Teratoma

Elmuti

Amundson

Oberman

et al. 2023

International Journal of Gynecological Pathology

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Immature neuroectodermal tissue can be found in the ovary as part of an immature teratoma or as part of a teratoma with malignant neuroectodermal transformation. Such lesions may closely resemble central nervous system tumors, but their biologic similarity is unclear. We describe an 18-yr-old female who presented with abdominal pain caused by an ovarian mass with widespread metastases. Histology showed a primitive, high-grade tumor arising in the background of a mature teratoma. The tumor was SOX10 positive, with focal expression of GFAP, S100, NSE, and synaptophysin. Molecular analysis demonstrated co-amplification of PDGFRA and KIT, alterations common in high-grade gliomas. By whole-genome methylation profiling, it clustered into the “diffuse pediatric-type high-grade glioma, RTK1 subtype, subclass c” group. Despite progressing through 2 lines of chemotherapy with widespread metastatic disease, she achieved an excellent response to chemotherapy directed toward aggressive germ cell tumors. This case emphasizes the importance of immunohistochemical, genomic, and epigenetic analyses to accurately classify these exceedingly rare tumors and determine the optimal therapy.

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