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H3-3A gene mutation analysis in giant cell tumor of bone and its histologic mimics: A single institutional study from India.

Annals of diagnostic pathology - 1 Jun 2026

Uppin Shantveer G, Hui Monalisa, Thomas Derin Mary, Uppin Megha S, Nalla Vinay, Rao K Nageshwara, Reddy Rajeev, Lingala Himakanth

Abstract excerpt

Though the diagnostic utility of H3.3G34W immunohistochemistry (IHC) for giant cell tumor of bone (GCTB) is well established, it is limited by a proportion of cases with variant H3-3A mutations [H3-3A: c.104G>T p. Gly35Val (G34V), H3-3A: c.103G>A p. Gly35Arg (G34R), H3-3A: c.103_104delinsCT p. Gly35Leu (G34L)], wild-type genotype and H3-3A:c.103G>T p. Gly35Trp (G34W) mutation identified by sequencing but not by...

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PMID: 41539257
DOI: 10.1016/j.anndiagpath.2026.152606

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