Genetic profile of primary mucinous cystadenocarcinoma of the breast—A case report

Lin, Lawrence Hsu; Hernández, Osvaldo; Zhu, Kelsey; Guth, Amber; Cotzia, Paolo; Darvishian, Farbod

doi:10.1111/tbj.14265

Cited by 10 publications

(21 citation statements)

References 13 publications

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“…The remaining patients did not have family history of breast cancer or other breast-related diseases. The size of MCA at diagnosis was described from non-palpable lesions to 190 mm ( 1 , 10 , 11 ), and the average size was 44 mm, larger than the tumor in this case study.…”

Section: Discussionmentioning

confidence: 61%

Mixed primary mucinous cystadenocarcinoma and invasive ductal carcinoma of the breast: a case report and literature review

Zuo¹,

Xie²

2022

Transl Cancer Res

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Background: Mucinous cystadenocarcinoma (MCA) mainly occurs in the ovary, pancreas, and appendix, whereas the breast is a rare primary site of occurrence. Invasive ductal carcinoma (IDC) is the most common breast malignancy. Only 31 cases of the breast MCA have been reported in the English literature, and the coexistence of MCA and IDC in the breast are rare.Case Description: Here, we describe a 61-year-old postmenopausal woman with no family history of breast cancer or other breast-related diseases, who presented with a palpable mass in her left breast lasting for 2 months. On ultrasonography examination, the tumor was a cystic-solid lesion with clear boundary.Magnetic resonance imaging (MRI) showed a mass with low signal intensity on T1 weighted imaging and high signal intensity on T2 weighted imaging. Intraoperative frozen sections revealed metastatic tumor cells in one sentinel lymph node (1/4). She then underwent left modified radical mastectomy with axillary dissection. The post-operative pathological examination showed the tumor consisted mostly of MCA (60%), with a small proportion of intermediate-grade IDC. The MCA had a well-demarcated cystic structure with papillary projections and abundant mucoid material. The epithelium lining cystic spaces was tall columnar, with mucin-producing cells that had basally located nuclei. The degree of cytological atypia varied considerably. Axillary lymph nodes were normal (0/15). The MCA was triple-negative for estrogen receptor (ER), progesterone receptor (PR), and HER2, and positive for CK7 but negative for CK20. Through nextgeneration sequencing, no mutations in the BRCA1 and BRCA2 genes were identified in our case, which was not highlighted in prior cases. After surgery, the patient underwent eight cycles of chemotherapy, and she has been disease-free during the 10-month follow-up. In addition to detailing this instance of mixed MCA and IDC of the breast, we reviewed relevant literature and compare our findings with other patients who had breast MCAs.Conclusions: Our results improved the understanding of mixed MCA and IDC, especially MCA, and provided a basis for its diagnosis and differential diagnosis from other metastatic diseases.

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Section: Discussionmentioning

confidence: 61%

Mixed primary mucinous cystadenocarcinoma and invasive ductal carcinoma of the breast: a case report and literature review

Zuo¹,

Xie²

2022

Transl Cancer Res

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“…Table 1 shows the genomes of only two cases at present. Common genetic variants were TP53 and RB1 , which suggests that alterations in tumor suppressor genes, particularly those involved in regulating the cell cycle and chromatin remodeling, are associated with the occurrence of this tumor [ 18 ]. In a large NGS project involving more than 10,000 patients with metastatic cancer, TP53 , KRAS , RB1 and PIK3CA were among the top 10 most commonly mutated genes in 62 major solid tumor entities [ 37 ].…”

Section: Discussionmentioning

confidence: 99%

Mammary mucinous cystadenocarcinoma with long-term follow-up: molecular information and literature review

2023

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Background Mucinous cystadenocarcinoma (MCA) is a very rare form of breast cancer that was first described in 1998. Only 33 cases of primary MCA, including our present case, have been reported thus far. As a consequence, its molecular features, prognosis and treatment regimen are poorly known. Here, we describe a less common presentation of MCA, detail its molecular features, discuss the major differential diagnosis, and provide a brief review of the literature. Case presentation A 59-year-old woman presented with a breast lump in which mammography showed a well-defined nodule. Core needle biopsy (CNB) revealed several lesions lined by tall columnar cells with stratification and abundant mucinous secretion; excision was recommended for final diagnosis. The resected specimens showed cavities of different sizes without surrounding myoepithelial cells. The cavities were rich in mucus, and the nuclei were located at the base of the cells, containing intracellular mucus. Immunohistochemical analysis revealed that it was triple-negative breast cancer (TNBC). Next-generation sequencing (NGS) revealed pathogenic mutations in the PIK3CA, KRAS, MAP2K4, RB1, KDR, PKHD1, TERT, and TP53 genes. A diagnosis of MCA was rendered. The patient has been followed up for 108 months to date and showed no signs of recurrence or metastasis. Conclusion Our study presents the gene profile of an MCA case with no recurrence or metastatic tendency after 108 months of follow-up, and a review of the literature helps us better understand the clinical, pathologic, and molecular features of this tumor.

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“…The age of onset of breast MCA has been reported as 41–96 years (average: 61.6 years), and most cases occur in those aged >60 years [3‒32]. The majority of cases of breast MCA were detected early or were locally advanced.…”

Section: Discussionmentioning

confidence: 99%

Mucinous Cystadenocarcinoma of the Breast with Bone Metastases: First Case Report and Literature Review

Gong,

Geng,

Liu

et al. 2023

Oncol Res Treat

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Introduction: Mucinous cystadenocarcinoma (MCA) of the breast is an extremely rare type of breast carcinoma. Since its biological characteristics, treatment options, and clinical outcomes are unclear, there is a lack of consensus regarding the optimal management of this disease. Thus, our single case report will aid our understanding of its natural history, prognostic factors, and treatment strategies. Case presentation: We present a 54-year-old woman with a case of advanced MCA of the breast accompanied by a huge breast mass, lymph node involvement, and distant bone metastases. We diagnosed primary breast MCA through clinical examination, imaging, and immunohistochemical assessments. Subsequently, the patient was treated with a regimen of nab-paclitaxel and bevacizumab, resulting in a significant clinical response. Progression-free survival was maintained during the 6-month follow-up period. Conclusion: We present the first report worldwide of a rare case of MCA of the breast with a large local mass and bone metastasis. Our report adds to the limited literature on this rare breast cancer subtype and highlights the importance of accurate diagnosis and appropriate management of aggressive breast tumors.

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Genetic profile of primary mucinous cystadenocarcinoma of the breast—A case report

Cited by 10 publications

References 13 publications

Mixed primary mucinous cystadenocarcinoma and invasive ductal carcinoma of the breast: a case report and literature review

Mixed primary mucinous cystadenocarcinoma and invasive ductal carcinoma of the breast: a case report and literature review

Mammary mucinous cystadenocarcinoma with long-term follow-up: molecular information and literature review

Mucinous Cystadenocarcinoma of the Breast with Bone Metastases: First Case Report and Literature Review

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