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乳腺原发性黏液囊腺癌:一例罕见病例报告并文献复习。

Primary Mucinous Cystadenocarcinoma of the Breast: A Rare Case Report With Review of Literature.

机构信息

Core Diagnostics Private Limited, Gurgaon, Haryana, India.

Dr Lal Path Lab, New Delhi, India.

出版信息

Int J Surg Pathol. 2021 Oct;29(7):740-746. doi: 10.1177/1066896921991650. Epub 2021 Feb 26.

Abstract

Primary mucinous cystadenocarcinoma (MCA) of the breast is a rare variant of breast carcinoma known to have a favorable prognosis despite showing a basal-like phenotype. We describe a case of MCA breast in a 45-year-old female with a palpable mass in the breast. On the basis of the histopathological and immunohistochemical evaluation of a lumpectomy specimen with the absence of mass anywhere else on whole-body imaging, a diagnosis of primary MCA was rendered. Mismatch repair protein evaluation showed this tumor to be microsatellite stable. Molecular testing revealed the absence of Kirsten rat sarcoma viral oncogene homolog (KRAS), neuroblastoma RAS viral oncogene homolog (NRAS), and v-raf murine sarcoma viral oncogene homolog B1 (BRAF) mutations. To date only 27 cases of MCA breast have been reported. To the best of our knowledge, ours is the first case documenting diffuse Cytokeratin 20 (CK20) positivity, microsatellite stability, and the absence of KRAS, NRAS, and BRAF mutations in these tumors. The rarity of this tumor further evokes an interest in this case. A better understanding of the disease warrants a review of more cases with longer follow-ups.

摘要

原发性黏液性囊腺癌(MCA)是一种罕见的乳腺癌变体,尽管表现出基底样表型,但预后良好。我们描述了一例 45 岁女性的 MCA 乳腺癌病例,该患者乳房有可触及的肿块。基于局部切除术标本的组织病理学和免疫组织化学评估,且全身成像未发现其他部位有肿块,诊断为原发性 MCA。错配修复蛋白评估显示该肿瘤为微卫星稳定型。分子检测显示无 Kirsten 鼠肉瘤病毒致癌基因同源物(KRAS)、神经母细胞瘤 RAS 病毒致癌基因同源物(NRAS)和 v-raf 鼠肉瘤病毒致癌基因同源物 B1(BRAF)突变。迄今为止,仅报道了 27 例 MCA 乳腺癌病例。据我们所知,我们的病例首次记录了弥漫性细胞角蛋白 20(CK20)阳性、微卫星稳定性以及这些肿瘤中无 KRAS、NRAS 和 BRAF 突变。这种肿瘤的罕见性进一步引起了对该病例的兴趣。更好地了解这种疾病需要对更多病例进行更长时间的随访。

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