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Gonadoblastoma; Mixed germ cell; Sex cord; Stromal tumor
Neoplasm resembling normal developing gonad (hence the name) composed of germ cell type and sex cord cells similar to immature granulosa cells.
Very rare neoplasia.
1st–2nd decade of life.
Descended or undescended testis.
It frequently occurs in patients with DSD (Disorders of Sex Development) such as Turner Syndrome, Swyer Syndrome, and Complete Androgen Insensitivity Syndrome. All these disorders have in common a mutation in one or multiple genes implicated in normal development of gonads, such as WT1, SOX9, SF1, DHH, ARX, and TSPY. These mutations lead to altered maturation of both sex cord cells component and germ cells component: the former resemble granulosa cells instead of normal Sertoli cells while the latter are prone to neoplastic transformation toward GCNIS-like cells (Ulbright and Young 2014).
Surgical excision of the...