背景:肛门生殖器区乳头状腺瘤(PHs)是罕见的肿瘤,其免疫组织化学和分子谱很少被研究。
方法:我们通过下一代测序和10个免疫组织化学标记(PAX8,GATA3,HER2,MSH6,PMS2,雌激素,孕激素和雄激素受体,CK14和NKX3.1)。
结果:所有病例均表达GATA3,而无PAX8表达,罕见肿瘤细胞为NKX3.1阳性。几乎所有病例都表达雌激素受体(ER),孕激素受体(PR),和雄激素受体(AR)。CK14表达于肌上皮细胞,而很少由上皮肿瘤细胞。HER2无显著表达。在所有情况下,错配修复蛋白的免疫组织化学表达均显示出持久性。分子分析经常显示PIK3CA突变,以及KRAS,SMO,和MAP2K1突变。
结论:生殖性PHs经常带有PIK3CA突变,并显示PAX8-,GATA3/ER/PR/AR+免疫组织化学谱。
BACKGROUND: Papillary hidradenomas (PHs) of the anogenital region are uncommon tumors whose immunohistochemical and molecular profile have been infrequently studied.
METHODS: We studied 15 PHs by next-generation sequencing and 10 immunohistochemical markers (PAX8, GATA3, HER2, MSH6, PMS2, estrogen, progesterone and androgen receptors, CK14, and NKX3.1).
RESULTS: All cases expressed GATA3, whereas none expressed PAX8, and rare tumor cells were NKX3.1-positive. Almost all cases expressed estrogen receptors (ER), progesteron receptors (PR), and androgen receptors (AR). CK14 was expressed by myoepithelial cells, whereas only rarely by the epithelial tumor cells. HER2 showed no significant expression. Immunohistochemical expression for the mismatch repair proteins showed persistence in all cases. Molecular analysis often showed PIK3CA mutations, as well as KRAS , SMO , and MAP2K1 mutations.
CONCLUSIONS: Anogenital PHs frequently harbor PIK3CA mutations and show a PAX8-, GATA3/ER/PR/AR + immunohistochemical profile.