Metaplastic carcinoma of the breast and BRCA1 germline mutation: a case report and review

Yamashita, Michiko; Kamei, Yasuhiro; Murakami, Akari; Ozaki, Erina; Okujima, Kumiko; Takemoto, Kana; Takaoka, Megumi; Tsukamoto, Daiki; Kusakabe, Erina; Shidahara, Tomoyuki; Noda, Haruna; Aoki, Reina; Taguchi, Kana; Nishiyama, Kanako; Eguchi, Mariko; Takada, Yasutsugu

doi:10.1186/s13053-020-00162-x

Cited by 5 publications

(3 citation statements)

References 11 publications

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“…We also performed a detailed literature search to identify previous papers about germline PVs in MpBC, describing also family history of BC/OC and selection criteria used for genetic testing. Eight case reports have been published so far on MpBC patients harboring germline PVs [18][19][20][21][22][23][24][25]. All of them were found to carry a C5 variant in BRCA1 gene; notably, one was also carrier of a C4 splicing variant in TP53 gene (Table 2).…”

Section: Resultsmentioning

confidence: 99%

Germline pathogenic variants in metaplastic breast cancer patients and the emerging role of the BRCA1 gene

et al. 2023

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Metaplastic breast cancer (MpBC) is a rare, aggressive type of breast cancer, often classi ed as triple negative (TN). Scarce information is available about germline testing in MpBC. We retrospectively reviewed MpBC patients counseled at our Institute and found to harbor germline pathogenic variants (PVs), and we revised literature data. We identi ed a germline PV in 15 MpBC patients: 13 in BRCA1 (86.7%), one in TP53 (6.7%), one in MLH1 (6.7%) genes. Eight MpBC PV carriers in BRCA1 have been previously described, including a patient with a PV in both BRCA1 and TP53. MpBC histological subtype in PV carriers was heterogeneous. All MpBCs were TN but 13.3% in our series showed HER2 overexpression.We described the largest series of MpBCs with germline PVs. As previously reported, we observed that BRCA1 is the mainly involved gene in MpBC patients who underwent germline testing according to speci c selection criteria. Additional studies on unselected patients are required to assess the authentic role of germline BRCA1 PVs in MpBCs and to explore the possible involvement of other genes in MpBC predisposition. Unraveling a speci c MpBC molecular landscape is a starting point for the de nition of new therapeutic strategies, since these tumors have a poor prognosis.

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Section: Resultsmentioning

confidence: 99%

Germline pathogenic variants in metaplastic breast cancer patients and the emerging role of the BRCA1 gene

et al. 2023

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“…Remarkably, these studies did not report family history nor the selection criteria used to address the patient to genetic testing. Additionally, single case reports described the diagnosis of MpBC in carriers of germline BRCA1 PVs (Breuer et al ., 2007; Noël et al ., 2010; Rashid et al ., 2011; Suspitsin et al ., 2011; Ghilli et al ., 2017; Yamashita et al ., 2021; Vohra et al ., 2022). All seven reported MpBC patients were BRCA1 carriers and affected by TN MpBCs with a mean age at diagnosis of 31.4 years (range 15–49 years).…”

Section: Genetic Counselingmentioning

confidence: 99%

Metaplastic breast cancer: an all-round multidisciplinary consensus

Corso

Nicosia

Pesapane

et al. 2023

European Journal of Cancer Prevention

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Metaplastic breast cancer (MpBC) is a rare and aggressive histologic subtype of breast cancer (BC) characterized by the presence of at least two cellular types, commonly epithelial and mesenchymal components. Despite growing evidence that MpBC is a unique entity, it has long been treated as a variant of nonspecial type (NST) BC. MpBC typically shows the phenotype of triple-negative breast cancer (TNBC), but compared to NST-TNBC, it is a relatively chemorefractory tumor associated with worse outcomes. Therefore, there is an urgent need to develop management guidelines specifically for MpBC to improve the prognosis of patients with early MpBC. This expert consensus aims to guide diagnosis and standardize clinical management of early MpBC among treating physicians. We provide guidance on the challenging radiological and pathological diagnosis of MpBC. Evidence on the involvement of genetic predisposition in the development of MpBC is also explored. We emphasize the importance of a multidisciplinary approach for the treatment of patients with early MpBC. The optimal surgery and radiotherapy approach is presented, as well as the opportunity offered by novel therapeutic approaches to increase treatment response in this chemoresistant subtype. Appropriate management of patients with MpBC is critical to reduce the high risk of local and distant recurrence that characterizes this disease. European

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“…MBC is defined as a group of variable breast diseases with mesenchymal or mixed mesenchymal and epithelial components [5,6]. It is a very rare type of breast cancer with a poor prognosis [7,8].…”

Section: Introductionmentioning

confidence: 99%

Metaplastic Breast Carcinoma Presenting as a Mixed Solid and Cystic Lesion

Arekemase¹,

Zafar²,

Manpreet³

et al. 2022

Cureus

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The objective of this paper is to report a rare presentation of metaplastic breast carcinoma (MBC) as a mixed solid/cystic mass and emphasize the possibility of having a different biopsy report and final diagnosis.MBC is a rare type of breast cancer consisting of mesenchymal or mixed mesenchymal and epithelial components. It is believed to result from the conversion of glandular cells into non-glandular cells through various forms of mutations. It is common in females and more frequent in older women. MBC is a triplenegative breast cancer (progestin receptor, estrogen receptor, and human epidermal growth factor receptor 2) with a very poor prognosis when compared with other types of breast cancers. This is a case of an 84-year-old woman presenting with rapidly growing mixed solid and cystic breast mass with a final diagnosis of MBC. The initial biopsy report was high-grade ductal carcinoma in situ. This is an unusual presentation of MBC.

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Metaplastic carcinoma of the breast and BRCA1 germline mutation: a case report and review

Cited by 5 publications

References 11 publications

Germline pathogenic variants in metaplastic breast cancer patients and the emerging role of the BRCA1 gene

Germline pathogenic variants in metaplastic breast cancer patients and the emerging role of the BRCA1 gene

Metaplastic breast cancer: an all-round multidisciplinary consensus

Metaplastic Breast Carcinoma Presenting as a Mixed Solid and Cystic Lesion

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