College of Medicine, QU Health, Qatar University, Doha, Qatar.
Departments of Pathology.
Appl Immunohistochem Mol Morphol. 2020 Oct;28(9):655-660. doi: 10.1097/PAI.0000000000000850.
Glycogen-rich clear cell carcinoma (GRCC) is a very rare form of primary breast cancer (<0.1% of all breast cancers). It is characterized by the presence of neoplastic cells with a glycogen-abundant clear cytoplasm (the Periodic Acid Schiff-positive, diastase-sensitive). The expression of steroid receptors (estrogen and progesterone receptors) has been variably reported (35% to 100% of the cases), whereas most studies reported low human epidermal growth factor receptor 2 positivity in GRCC. High androgen receptor positivity without androgen receptor splice variant-7 was reported in one recent study. Although sparse, the preliminary theranostic data on GRCC indicate the potential of targeted treatments in selected cases (antiandrogen, PIK3CA, and immune checkpoint inhibitors). Because of its rarity, the prognosis for GRCC patients remains controversial. Herein, we comprehensively appraise the epidemiological, morphologic, molecular, and clinical characteristics of this rare mammary malignancy.
富含糖原的透明细胞癌（GRCC）是一种非常罕见的原发性乳腺癌（<0.1%的所有乳腺癌）。其特征是存在具有丰富糖原的透明细胞质的肿瘤细胞（过碘酸雪夫阳性，淀粉酶敏感）。甾体受体（雌激素和孕激素受体）的表达情况各不相同（35%至 100%的病例），而大多数研究报告 GRCC 中人表皮生长因子受体 2 的阳性率较低。最近的一项研究报道了雄激素受体高表达但雄激素受体剪接变异体-7 阴性。尽管很少，但 GRCC 的初步治疗数据表明，在某些情况下靶向治疗具有潜力（抗雄激素、PIK3CA 和免疫检查点抑制剂）。由于其罕见性，GRCC 患者的预后仍存在争议。在此，我们全面评估了这种罕见乳腺恶性肿瘤的流行病学、形态学、分子和临床特征。
