Primary mucinous cystadenocarcinoma of the breast: A case report and literature review

Cao,Xi; Luo,Yongchao; Shen,Songjie; Ren,Xinyu

doi:10.3892/ol.2024.14806

Primary mucinous cystadenocarcinoma of the breast: A case report and literature review

Authors:
- Xi Cao
- Yongchao Luo
- Songjie Shen
- Xinyu Ren
View Affiliations

Affiliations: Department of Breast Surgery, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, P.R. China, Department of Pathology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, P.R. China
Published online on: November 15, 2024 https://doi.org/10.3892/ol.2024.14806
Article Number: 60
Copyright: © Cao et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )

Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )

Cited By (CrossRef): 0 citations Loading Articles...

Abstract

Mucinous cystadenocarcinoma (MCA) is a rare breast cancer. The present study reports a case of primary MCA of the breast with a comprehensive evaluation of this rare tumour. A 51‑year‑old woman sought medical attention for a mass in the left breast. A core needle biopsy revealed an infiltrating adenocarcinoma with mucus secretion and papillary formation. The macroscopic appearance was of a greyish‑white, tough and well‑circumscribed solid mass, without a notable cyst. Microscopically, the tumour consisted of ducts and cysts of varying sizes. Varying degrees of branching papillary structures were observed in the lumen and cyst cavities. The tumour cells were highly columnar in shape, with high‑grade nuclei arranged in a single‑layer. Immunohistochemistry revealed that the tumour was a basal‑like triple‑negative breast cancer with a high proliferation index and tumour protein p53 diffuse strong expression. Mutations in breast cancer 1‑associated RING domain 1 (BARD1), kinase domain containing receptor (KDR), mucin‑6 (MUC6), tumour protein 53 (TP53) and breast cancer 1‑interacting protein C‑terminal helicase 1 (BRIP1) were identified using DNA analysis. The patient was followed up for 26 months and showed no signs of recurrence or metastasis. In conclusion, the current study presents a case of MCA of breast accompanied by mutations in the BARD1, KDR, MUC6, TP53 and BRIP1 genes, with no recurrence after a 26‑month follow‑up. Combining this case with a review of the literature helps us to better understand the clinicopathological and genetic characteristics of MCA, and guide treatment.

View Figures

View References

1	Koenig C and Tavassoli FA: Mucinous cystadenocarcinoma of the breast. Am J Surg Pathol. 22:698–703. 1998. View Article : Google Scholar : PubMed/NCBI
2	Tavassoli FA and Devilee P: Pathology and genetics of tumours of the breast and female genital organs. Lyon, France: IARC Press, World Health Organization Classification of Tumours; pp. pp30–31. 2003
3	Wen HY, Desmedt C, Reis-Filho JS and Schmit F: Mucinous cystadenocarcinoma. In WHO Classifification of Breast Tumours. 5th edition. Lokuhetty D: International Agency for Research on Cancer; Lyon, France: pp. 126–127. 2019
4	Rosen PP and Scott M: Cystic hypersecretory duct carcinoma of the breast. Am J Surg Pathol. 8:31–41. 1984. View Article : Google Scholar : PubMed/NCBI
5	Domoto H, Terahata S, Yamazaki T, Sato K, Takeo H and Tamai S: Mucinous cystadenocarcinoma of the breast showing sulfomucin production. Histopathology. 36:567–569. 2000. View Article : Google Scholar : PubMed/NCBI
6	Honma N, Sakamoto G, Ikenaga M, Kuroiwa K, Younes M and Takubo K: Mucinous cystadenocarcinoma of the breast: A case report and review of the literature. Arch Pathol Lab Med. 127:1031–1033. 2003. View Article : Google Scholar : PubMed/NCBI
7	Chen WY, Chen CS, Chen HC, Hung YJ and Chu JS: Mucinous cystadenocarcinoma of the breast coexisting with infiltrating ductal carcinoma. Pathol Int. 54:781–786. 2004. View Article : Google Scholar : PubMed/NCBI
8	Coyne JD and Irion L: Mammary mucinous cystadenocarcinoma. Histopathology. 49:659–660. 2006. View Article : Google Scholar : PubMed/NCBI
9	Lee SH and Chaung CR: Mucinous metaplasia of breast carcinoma with macrocystic transformation resembling ovarian mucinous cystadenocarcinoma in a case of synchronous bilateral infiltrating ductal carcinoma. Pathol Int. 58:601–605. 2008. View Article : Google Scholar : PubMed/NCBI
10	Rakıcı S, Gönüllü G, Gürsel SB, Yıldız L, Bayrak IK and Yücel I: Mucinous cystadenocarcinoma of the breast with estrogen receptor expression: A case report and review of the literature. Case Rep Oncol. 2:210–216. 2009. View Article : Google Scholar : PubMed/NCBI
11	Gulwani H and Bhalla S: Mucinous cystadenocarcinoma: A rare primary malignant tumor of the breast. Indian J Pathol Microbiol. 53:200–202. 2010. View Article : Google Scholar : PubMed/NCBI
12	Petersson F, Pang B, Thamboo TP and Putti TC: Mucinous cystadenocarcinoma of the breast with amplification of the HER2-gene confirmed by FISH: The first case reported. Hum Pathol. 41:910–913. 2010. View Article : Google Scholar : PubMed/NCBI
13	Sentani K, Tashiro T, Uraoka N, Aosaki Y, Yano S, Takaeko F and Yasui W: Primary mammary mucinous cystadenocarcinoma: Cytological and histological findings. Diagn Cytopathol. 40:624–628. 2012. View Article : Google Scholar : PubMed/NCBI
14	Deng Y, Xue D, Wang X, Xu S, Ao Q, Hu Z and Wang G: Mucinous cystadenocarcinoma of the breast with a basal-like immunophenotype. Pathol Int. 62:429–432. 2012. View Article : Google Scholar : PubMed/NCBI
15	Li X, Peng J, Zhang Z and Zhang Y: Mammary mucinous cystadenocarcinoma. Breast J. 18:282–283. 2012. View Article : Google Scholar : PubMed/NCBI
16	Kim SE, Park JH, Hong S, Koo JS, Jeong J and Jung WH: Primary mucinous cystadenocarcinoma of the breast: Cytologic finding and expression of MUC5 Are different from mucinous carcinoma. Korean J Pathol. 46:611–616. 2012. View Article : Google Scholar : PubMed/NCBI
17	Witherspoon LE and Oxenhandler RW: A rare tumor: Mucinous cystadenocarcinoma of the breast. Am Surg. 81:E106–E108. 2015. View Article : Google Scholar : PubMed/NCBI
18	Lin DL, Hu JL, Shao SH, Sun DM and Wang JG: Primary mucinous cystadenocarcinoma of the breast with endocervical-like mucinous epithelium. Breast Care (Basel). 8:445–447. 2013. View Article : Google Scholar : PubMed/NCBI
19	Kucukzeybek BB, Yigit S, Sari AA, Rezanko T, Durak E and Sadullahoglu C: Primary mucinous cystadenocarcinoma of the breast with amplification of the HER2 gene confirmed by FISH-case report and review of the literature. Pol J Pathol. 65:70–73. 2014. View Article : Google Scholar : PubMed/NCBI
20	Seong M, Ko EY, Han BK, Cho SY, Cho EY, Lee SK and Lee JE: Radiologic findings of primary mucinous cystadenocarcinoma of the breast: A report of two cases and a literature review. J Breast Cancer. 19:330–333. 2016. View Article : Google Scholar : PubMed/NCBI
21	Koufopoulos N, Goudeli C, Syrios J, Filopoulos E and Khaldi L: Mucinous cystadenocarcinoma of the breast: The challenge of diagnosing a rare entity. Rare Tumors. 9:70162017. View Article : Google Scholar : PubMed/NCBI
22	Nayak A, Bleiweiss IJ, Dumoff K and Bhuiya TA: Mucinous cystadenocarcinoma of the Breast: Report of 2 cases including one with Long-term local recurrence. Int J Surg Pathol. 26:749–757. 2018. View Article : Google Scholar : PubMed/NCBI
23	Kaur M, Tiwana KK and Singla N: Rare breast malignancy subtypes: A cytological, histological, and immunohistochemical correlation. Niger J Surg. 25:70–75. 2019. View Article : Google Scholar : PubMed/NCBI
24	Sun M, Su S, Liu Q, Li Q and Wang K: Mammary synchronous mucinous cystadenocarcinoma and columnar cell mucinous carcinoma: A case report. Int J Clin Exp Pathol. 13:2381–2386. 2020.PubMed/NCBI
25	Wang X, Li Y, Zhao P, Jia H, Dong X, Zhang L and Wang C: Primary mucinous cystadenocarcinoma of the breast: A clinicopathologic analysis of one case and review of the literature. Int J Clin Exp Pathol. 13:2562–2568. 2020.PubMed/NCBI
26	Hu Y, Tian C, Zhang X, Wei Q and Bian Y: 18F-FDG PET/CT findings in a patient with primary mucinous cystadenocarcinoma of the breast. Clin Nucl Med. 45:159–160. 2020. View Article : Google Scholar : PubMed/NCBI
27	Jain E, Kumar A, Jain R and Sharma S: Primary mucinous cystadenocarcinoma of the breast: A rare case report with review of literature. Int J Surg Pathol. 29:740–746. 2021. View Article : Google Scholar : PubMed/NCBI
28	Lin LH, Hernandez O, Zhu K, Guth A, Cotzia P and Darvishian F: Genetic profile of primary mucinous cystadenocarcinoma of the breast-A case report. Breast J. 27:731–734. 2021. View Article : Google Scholar : PubMed/NCBI
29	Kamrani G, Nikbakhsh N, Hosseini A, Ghorbani H, Arefisigaroudi N and Davarian A: Mucinous cystadenocarcinoma of breast in a 69-year-old woman with positive hormone receptors, the first case reported. Caspian J Intern Med. 12 (Suppl 2):S444–S446. 2021.PubMed/NCBI
30	Zuo C and Xie J: Mixed primary mucinous cystadenocarcinoma and invasive ductal carcinoma of the breast: A case report and literature review. Transl Cancer Res. 11:4455–4464. 2022. View Article : Google Scholar : PubMed/NCBI
31	Kaur K, Shah A, Gandhi J and Trivedi P: Mucinous cystadenocarcinoma of the breast: A new entity with broad differentials-a case report. J Egypt Natl Canc Inst. 34:92022. View Article : Google Scholar : PubMed/NCBI
32	Moatasim A and Mamoon N: Primary breast mucinous cystadenocarcinoma and review of literature. Cureus. 14:e230982022.PubMed/NCBI
33	Lei T, Shi YQ and Chen TB: Mammary mucinous cystadenocarcinoma with long-term follow-up: Molecular information and literature review. Diagn Pathol. 18:132023. View Article : Google Scholar : PubMed/NCBI
34	Gong Y, Geng X, Liu Y, Zhang R, Liu Y and Li H: Mucinous cystadenocarcinoma of the breast with bone metastases: First case report and literature review. Oncol Res Treat. 47:97–103. 2024. View Article : Google Scholar : PubMed/NCBI
35	Vegni F, D'Alessandris N, Santoro A, Angelico G, Scaglione G, Carlino A, Arciuolo D, Valente M, Sfregola S, Natale M, et al: Primary mucinous cystadenocarcinoma of the breast intermixed with pleomorphic invasive lobular carcinoma: The first report of this rare association. J Pers Med. 13:9482023. View Article : Google Scholar : PubMed/NCBI
36	Xiao N, Xiao SB, Chen CW and Gao YT: Breast mucinous cystadenocarcinoma: Report of a case. Zhonghua Bing Li Xue Za Zhi. 50:1302–1304. 2021.(In Chinese). PubMed/NCBI
37	Yao M, Cao LQ, Gao YH and Gao HW: Mixed mucinous cystadenocarcinoma and columnar cell mucinous carcinoma of the breast with axillary lymph node metastases: Report of a case. Zhonghua Bing Li Xue Za Zhi. 51:567–569. 2022.(In Chinese). PubMed/NCBI
38	Luo SY, Zhou ML, Jian L and Wang DZ: Primary mucinous cystadenocarcinoma of the breast with hormone receptor expression: Report of a case. Zhonghua Bing Li Xue Za Zhi. 52:1055–1057. 2023.(In Chinese). PubMed/NCBI
39	Hirabayashi K, Yasuda M, Kajiwara H, Itoh J, Miyazawa M, Hirasawa T, Muramatsu T, Murakami M, Mikami M and Osamura RY: Alterations in mucin expression in ovarian mucinous tumors: Immunohistochemical analysis of MUC2, MUC5AC, MUC6, and CD10 expression. Acta Histochem Cytochem. 41:15–21. 2008. View Article : Google Scholar : PubMed/NCBI
40	Wang J and El-Bahrawy M: Expression profile of mucins (MUC1, MUC2, MUC5AC, and MUC6) in ovarian mucinous tumours: Changes in expression from benign to malignant tumours. Histopathology. 66:529–535. 2015. View Article : Google Scholar : PubMed/NCBI
41	Amin MB, Greene FL, Edge SB, Compton CC, Gershenwald JE, Brookland RK, Meyer L, Gress DM, Byrd DR and Winchester DP: The Eighth Edition AJCC Cancer Staging Manual: Continuing to build a bridge from a population-based to a more ‘personalized’ approach to cancer staging. CA Cancer J Clin. 67:93–99. 2017. View Article : Google Scholar : PubMed/NCBI
42	Cibulskis K, Lawrence MS, Carter SL, Sivachenko A, Jaffe D, Sougnez C, Gabriel S, Meyerson M, Lander ES and Getz G: Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples. Nat Biotechnol. 31:213–219. 2013. View Article : Google Scholar : PubMed/NCBI
43	Saunders CT, Wong WS, Swamy S, Becq J, Murray LJ and Cheetham RK: Strelka: Accurate somatic small-variant calling from sequenced tumor-normal sample pairs. Bioinformatics. 28:1811–1817. 2012. View Article : Google Scholar : PubMed/NCBI
44	Wang K, Li M and Hakonarson H: ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 38:e1642010. View Article : Google Scholar : PubMed/NCBI
45	Talevich E, Shain AH, Botton T and Bastian BC: CNVkit: Genome-Wide copy number detection and visualization from targeted DNA sequencing. PLoS Comput Biol. 12:e10048732016. View Article : Google Scholar : PubMed/NCBI
46	Jiang Z, Li J, Chen J, Liu Y, Wang K, Nie J, Wang X, Hao C, Yin Y, Wang S, et al: Chinese society of clinical oncology (CSCO) breast cancer guidelines 2022. Transl Breast Cancer Res. 3:132022. View Article : Google Scholar : PubMed/NCBI
47	Tay TKY and Tan PH: Papillary neoplasms of the breast-reviewing the spectrum. Mod Pathol. 34:1044–1061. 2021. View Article : Google Scholar : PubMed/NCBI
48	Chen S, Wang J, Yang L, Ji M and Chen S: Comparative analysis of clinicopathologic characteristics and molecular subtypes of invasive papillary carcinoma of the breast and invasive ductal carcinoma: Results from SEER database. J BUON. 26:1991–2002. 2021.PubMed/NCBI
49	Ginter PS, Tang X and Shin SJ: A review of mucinous lesions of the breast. Breast J. 26:1168–1178. 2020. View Article : Google Scholar : PubMed/NCBI
50	Kato S, Han SY, Liu W, Otsuka K, Shibata H, Kanamaru R and Ishioka C: Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. Proc Natl Acad Sci USA. 100:8424–8429. 2003. View Article : Google Scholar : PubMed/NCBI
51	Oh S, Nam SK, Lee KW, Lee HS, Park Y, Kwak Y, Lee KS, Kim JW, Kim JW, Kang M, et al: Genomic and Transcriptomic characterization of gastric cancer with bone metastasis. Cancer Res Treat. 56:219–237. 2024. View Article : Google Scholar : PubMed/NCBI
52	Argani P, Saoud C and Antonescu CR: Molecular analysis of Renal/adrenal angiosarcomas reveals high frequency of recurrent genetic alterations. Genes Chromosomes Cancer. 63:e232682024. View Article : Google Scholar : PubMed/NCBI
53	Chen M, Zhang X, Ming Z, Lingy u, Feng X, Han Z and An HX: Characterizing and forecasting neoantigens-resulting from MUC mutations in COAD. J Transl Med. 22:3152024. View Article : Google Scholar : PubMed/NCBI
54	Wu LC, Wang ZW, Tsan JT, Spillman MA, Phung A, Xu XL, Yang MC, Hwang LY, Bowcock AM and Baer R: Identification of a RING protein that can interact in vivo with the BRCA1 gene product. Nat Genet. 4:430–440. 1996. View Article : Google Scholar : PubMed/NCBI
55	Breast Cancer Association Consortium, . Dorling L, Carvalho S, Allen J, González-Neira A, Luccarini C, Wahlström C, Pooley KA, Parsons MT, Fortuno C, et al: Breast cancer risk genes-Association analysis in more than 113,000 women. N Engl J Med. 384:428–439. 2021. View Article : Google Scholar : PubMed/NCBI