Molecular characterization of uterine and ovarian tumors with mixed epithelial and germ cell features confirms frequent somatic derivation

Stephanie L. Skala, Chia-Jen Liu, Chia‐Jen Liu, Liu CJ, Aaron M. Udager, Andrew P. Sciallis
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2020 · vol. 33(10) , pp. 1989–2000 · doi:10.1038/s41379-020-0548-6 · PMID:32404953 · W3024601187
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This study characterized uterine and ovarian tumors with mixed epithelial and germ cell features, confirming frequent somatic derivation for these complex neoplasms.

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Abstract

Ovarian germ cell tumors, including yolk sac tumors, are most commonly diagnosed in children and young women. Most so-called yolk sac tumors reported in women >35 years old have been associated with an epithelial proliferation (endometriosis or carcinoma). Here, we describe eight cases clinically diagnosed as uterine or ovarian germ cell tumors in women >35 years old. In addition to routine morphologic examination and immunohistochemical evaluation, we present data from targeted next-generation sequencing (NGS) and isochromosome (12p) fluorescence in situ hybridization (FISH). We identified two groups of tumors with mixed germ cell and epithelial features: (1) tumors with background endometriosis and endometrioid carcinoma-like mutations (PTEN, PIK3CA, FGFR2, and CTNNB1), and (2) high-grade morphology, presumptive presence of isochromosome (12p) by FISH, and TP53 or PIK3CA mutations. These findings support the notion that the "germ cell tumor" component of these tumors is often somatically derived. Two tumors in our cohort were from premenopausal women; one showed no detectable mutations by NGS (suggestive of germ cell derivation), whereas the other showed PIK3CA, PTEN, and CTNNB1 mutations (suggestive of somatic derivation). Accurate classification of these tumors is likely important for selection of appropriate chemotherapy.

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MeSH descriptors

Carcinoma, Endometrioid Endodermal Sinus Tumor Neoplasms, Complex and Mixed Ovarian Neoplasms Uterine Neoplasms Adult Aged Carcinoma, Endometrioid Endodermal Sinus Tumor Female Humans Middle Aged Neoplasms, Complex and Mixed Ovarian Neoplasms Uterine Neoplasms

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