Tondi Resta Isabella, Nelson Nya D, Toorens Erik, Bleiweiss Ira J, Nayak Anupma
Hospital of the University of Pennsylvania, Philadelphia, PA, USA.
Seattle Children's Hospital, Seattle, Washington, USA.
Int J Surg Pathol. 2025 Oct;33(7):1583-1592. doi: 10.1177/10668969251331202. Epub 2025 Apr 13.
Mucinous cystadenocarcinoma of the breast is an exceedingly rare entity with less than 40 tumors reported to date. It is classified as a special subtype of breast carcinoma which exhibits low-grade indolent behavior despite having a triple-negative phenotype. Awareness of this rare tumor is essential to avoid misinterpreting it as a routine mucinous (colloid) carcinoma of the breast or metastasis from a nonmammary mucinous carcinoma. Though the clinical, histological, and immunohistochemical features of breast mucinous cystadenocarcinoma have been described thoroughly, data on molecular features remains scarce. Herein, we present 3 patients with mucinous cystadenocarcinoma, highlighting the molecular features in 2 patients and discussing the literature in this regard. Additionally, we report that these tumors have the potential for short-term recurrence despite complete surgical excision, and they therefore should probably be treated as any other triple-negative breast cancer (TNBC) with careful consideration of other factors such as patient's age, tumor size, nodal stage, and tumor grade. Review of the literature on this rare tumor together with findings from the current report suggests that MCAs at the molecular level are similar to TNBC, with frequent recurring variants in PI3K pathway genes, including and genes. We report here for the first time the presence of variants in mucinous cystadenocarcinoma. This information could be useful to offer targeted treatment against and in patients with this rare tumor.
乳腺黏液性囊腺癌是一种极为罕见的疾病,迄今为止报道的病例不足40例。它被归类为乳腺癌的一种特殊亚型,尽管具有三阴性表型,但表现出低度惰性行为。认识到这种罕见肿瘤对于避免将其误诊为常规的乳腺黏液性(胶样)癌或非乳腺黏液性癌的转移至关重要。尽管乳腺黏液性囊腺癌的临床、组织学和免疫组化特征已被充分描述,但分子特征的数据仍然稀缺。在此,我们报告3例黏液性囊腺癌患者,重点介绍其中2例患者的分子特征并讨论相关文献。此外,我们报告这些肿瘤尽管手术完全切除仍有短期复发的可能,因此可能应像对待其他三阴性乳腺癌(TNBC)一样进行治疗,并仔细考虑患者年龄、肿瘤大小、淋巴结分期和肿瘤分级等其他因素。对关于这种罕见肿瘤的文献回顾以及本报告的研究结果表明,黏液性囊腺癌在分子水平上与TNBC相似,PI3K通路基因,包括 和 基因中存在频繁的复发变异。我们在此首次报告黏液性囊腺癌中存在 变异。这些信息可能有助于为患有这种罕见肿瘤的患者提供针对 和 的靶向治疗。