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. 2016 Feb 8;113(9):2454–2459. doi: 10.1073/pnas.1521325113

Fig. 1.

Fig. 1.

Seminiferous tubules strongly immunopositive for MAGEA4 contain pathogenic mutations. (A–C) Thin sections from three FFPE testes showing spermatogonia, marked by MAGEA4 positivity (brown staining), present in a single layer at the periphery of normal tubular cross-sections (green surround or unlabeled). A subset of tubules (immunopositive tubules) display enhanced MAGEA4 staining (blue surround) due to dense clustering of spermatogonia with strong immunoreactivity. Dideoxy-sequencing traces were obtained from non-WGA DNA extracted from microdissected tissue of an adjacent section. (A) Heterozygous FGFR3 c.1118A>G (p.Y373C) mutations (*) are present in immunopositive tubules, but not in neighboring normal tubules. Clusters of mutation-positive tubules likely represent cross-sections of a single convoluted tubule. (B) In a longitudinal section of a tubule showing the transition from normal to strongly immunopositive staining, the heterozygous HRAS c.37C>G (p.G13R) mutation (*) was specific to the immunopositive portion, pinpointing the boundary between nonmutant and mutant cells. (C) Heterozygous FGFR2 c.758C>G (p.P253R) mutation (*) in immunopositive tubule. (Scale bars: 100 µm.)