Rare Breast Tumors

A special issue of Cancers (ISSN 2072-6694). This special issue belongs to the section "Cancer Therapy".

Deadline for manuscript submissions: 25 September 2025 | Viewed by 6826

Special Issue Editors


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Guest Editor
Department of Gynecology and Obstetrics, University Hospital Schleswig, Holstein Campus Lübeck, 23562 Lübeck, Germany
Interests: breast cancer; breast surgery; oncology; oncoplastics
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Guest Editor
Centro di Senologia della Svizzera Italiana (CSSI), Department of Gynecology and Obstetrics, Ente Ospedaliero Cantonale, University of Italian Switzerland (USI), Lugano, Switzerland
Interests: breast cancer; medical chemistry; tumors
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

In most common types of breast cancer, such as no special type and invasive lobular carcinoma, the therapeutic approach is generally well defined. However, rare breast tumors, accounting for less than 2% of all breast cancer cases, present a diagnostic and therapeutic challenge. Because of their rarity, data on prognosis and evidence-based recommendations are lacking and there are no randomized studies to define the optimal neoadjuvant and adjuvant treatment.

The goal of this Special Issue is to highlight breast tumors with rare histology, with a focus on clinical and pathological characteristics as well as responses to different therapeutic strategies. Original research articles and reviews are welcome.

Prof. Dr. Maggie Banys-Paluchowski
Prof. Dr. Maria Luisa Gasparri
Guest Editors

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Keywords

  • rare breast tumors
  • rare histology
  • breast cancer
  • phylloides tumor
  • male breast cancer
  • CUP syndrome
  • breast implant-associated anaplastic large cell lymphoma
  • diabetic mastopathy
  • metaplastic breast cancer
  • apocrine breast cancer
  • inflammatory breast cancer
  • medullary breast cancer
  • mucinous breast cancer
  • adenoid cystic carcinoma of the breast
  • lymphoma of the breast
  • basal type breast cancer
  • angiosarcoma of the breast breast neuroendocrine tumors
  • brain metastases
  • PET imaging agents (FES, FFNP, and FDHT)
  • microinvasive breast cancer
  • supraclavicular and contralateral axillary lymph node involvement
  • ectopic breast tissue
  • pregnancy-associated breast cancer

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Published Papers (5 papers)

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Research

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21 pages, 16069 KiB  
Article
Quality-of-Life and Oncological Outcomes in Male Breast Cancer: Insights from an Extensive 20-Year Experience
by Massimo Ferrucci, Francesco Milardi, Daniele Passeri, Maria Pozzerle, Matteo Cagol, Tania Saibene, Silvia Michieletto, Mariacristina Toffanin, Paola Del Bianco and Alberto Marchet
Cancers 2025, 17(5), 829; https://doi.org/10.3390/cancers17050829 - 27 Feb 2025
Viewed by 587
Abstract
Background/Objectives: Male breast cancer (MBC) is a rare malignancy with a globally rising incidence. Due to the paucity of specific evidence, therapeutic strategies are often extrapolated from female breast cancer guidelines. The quality of life (QoL) among MBC patients remains underexplored. Methods [...] Read more.
Background/Objectives: Male breast cancer (MBC) is a rare malignancy with a globally rising incidence. Due to the paucity of specific evidence, therapeutic strategies are often extrapolated from female breast cancer guidelines. The quality of life (QoL) among MBC patients remains underexplored. Methods: This single-institution retrospective study analyzed male patients who underwent surgery for newly diagnosed breast cancer at our institution from 1998 to 2020. The primary aim was to assess QoL after surgical and medical treatments using a newly developed 12-item dedicated questionnaire. Clinicopathological features were recorded, and oncological and survival outcomes were evaluated, with a specific focus on identifying factors influencing QoL. Results: A total of 109 consecutive MBC patients who underwent surgery were included, with 96.3% undergoing total mastectomy. The median global QoL score was 28.5 out of 36, where scores above 24 indicated a low impact of BC treatments on QoL. Multivariate analyses identified adjuvant chemotherapy (p < 0.001) and postoperative complications (p < 0.001) as significant predictors of poorer QoL. Patients reported significantly lower scores on medical treatment-related items compared to surgery-related items (p < 0.001). The 10-year overall survival rate was 79.1%, with a 10-year BC-specific mortality of 3.5%. Advanced age, higher stage disease, and receiving adjuvant chemotherapy were independently associated with poorer overall survival. Conclusions: Despite elevated mastectomy rates, MBC patients self-reported high levels of satisfaction with their treatment outcomes. Medical therapies showed a more pronounced negative impact on QoL than surgery. These findings provide novel insights into the QoL of MBC patients, highlighting the need for future prospective studies and tailored treatments. Full article
(This article belongs to the Special Issue Rare Breast Tumors)
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12 pages, 416 KiB  
Article
Low-Grade Adenosquamous Carcinoma of the Breast: A Single-Center Retrospective Study and a Systematic Literature Review
by Anselm Tamminen and Pia Boström
Cancers 2024, 16(24), 4246; https://doi.org/10.3390/cancers16244246 - 20 Dec 2024
Cited by 1 | Viewed by 838
Abstract
(1) Low-grade adenosquamous carcinoma (LGASC) is a rare subtype of metaplastic breast carcinoma (MpBC), accounting for fewer than 0.05% of breast cancer cases. Unlike the typically aggressive nature of MpBCs, LGASC is an indolent tumor with an excellent prognosis. Due to its rarity, [...] Read more.
(1) Low-grade adenosquamous carcinoma (LGASC) is a rare subtype of metaplastic breast carcinoma (MpBC), accounting for fewer than 0.05% of breast cancer cases. Unlike the typically aggressive nature of MpBCs, LGASC is an indolent tumor with an excellent prognosis. Due to its rarity, LGASC is frequently misdiagnosed, particularly in core needle biopsies. Currently, there are no clear treatment guidelines for LGASC. (2) Methods: This study presents a single-center retrospective analysis and a systematic literature review of LGASC. (3) Results: Three LGASC cases were diagnosed among 6462 breast cancer patients in our center, demonstrating its rarity. LGASC has overlapping features with benign sclerosing lesions and is often initially misdiagnosed. LGASC is often overtreated, as its indolent nature is not recognized. It very rarely presents axillary or distant metastases, and in contemporary data, local recurrences are rare, questioning the need for adjuvant therapy. (4) Conclusions: LGASC is a very rare form of breast cancer with an excellent prognosis despite being MpBC and usually a triple-negative breast cancer. It is often overtreated as its unique nature is not recognized. Full article
(This article belongs to the Special Issue Rare Breast Tumors)
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14 pages, 1088 KiB  
Article
Predicting Additional Metastases in Axillary Lymph Node Dissection After Neoadjuvant Chemotherapy: Ratio of Positive/Total Sentinel Nodes
by Isaac Cebrecos, Ines Torras, Helena Castillo, Claudia Pumarola, Sergi Ganau, Carla Sitges, Sergi Vidal-Sicart, Francesco Schettini, Esther Sanfeliu, Ignacio Loinaz, Marta Garcia, Gabriela Oses, Meritxell Molla, Maria Vidal and Eduard Mension
Cancers 2024, 16(21), 3638; https://doi.org/10.3390/cancers16213638 - 29 Oct 2024
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Abstract
Background/Objectives: The aim of the study was to determine the clinical value of the sentinel lymph node ratio (SLN-R) in predicting additional positive lymph nodes during axillary lymph node dissection (ALND) in breast cancer patients following neoadjuvant chemotherapy (NAC). Methods: A cross-sectional study [...] Read more.
Background/Objectives: The aim of the study was to determine the clinical value of the sentinel lymph node ratio (SLN-R) in predicting additional positive lymph nodes during axillary lymph node dissection (ALND) in breast cancer patients following neoadjuvant chemotherapy (NAC). Methods: A cross-sectional study was performed at a single institution evaluating data from 1521 BC patients. Inclusion criteria comprised cT1/cT4, cN0/cN1 status with positive post-NAC axillary staging by SLN/TAD, respectively, and subsequent ALND. Results: The study included 118 patients, divided into two groups based on the presence or absence of additional node metastasis at ALND: 39 in the residual disease group (RD) and 79 in the non-residual disease group (nRD). Univariate logistic regression analysis of SLN-R was conducted to assess its predictive value, yielding an odds ratio (OR) of 7.79 (CI 1.92–29.5, p = 0.003). An SLN-R cut-off point of <0.35 was identified using ROC curve analysis, with a false-negative rate of 10.2%, as a predictor for no additional metastasis at ALND following post-NAC SLN/TAD positivity. Conclusions: The study concludes that SLN-R is a valuable predictor for determining the omission of ALND in cases where SLN/TAD is positive after NAC. This metric, in combination with other clinical variables, could help develop a nomogram to spare patients from ALND. Full article
(This article belongs to the Special Issue Rare Breast Tumors)
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Review

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8 pages, 1666 KiB  
Review
Adenoid Cystic Carcinoma of the Breast: A Narrative Review and Update on Management
by Taylor Neilson, Zaibo Li, Christina Minami and Sara P. Myers
Cancers 2025, 17(7), 1079; https://doi.org/10.3390/cancers17071079 - 23 Mar 2025
Viewed by 363
Abstract
Rare breast malignancies represent a challenge for treatment decision making given the lack of evidence-based guidelines. As a particularly uncommon tumor, adenoid cystic carcinomas are especially challenging. Although, histopathologically, they share the same tumor molecular profile as hormone receptor-negative and HER2 nonamplified carcinomas [...] Read more.
Rare breast malignancies represent a challenge for treatment decision making given the lack of evidence-based guidelines. As a particularly uncommon tumor, adenoid cystic carcinomas are especially challenging. Although, histopathologically, they share the same tumor molecular profile as hormone receptor-negative and HER2 nonamplified carcinomas with aggressive physiology, adenoid cystic carcinomas generally have a favorable prognosis. Thus, there is evidence to suggest that more aggressive treatment regimens may not provide better therapeutic effects. In this review, we discuss ACCB with the goal of highlighting pathophysiology, clinical features, and treatment strategies. Existing data support consideration for adjuvant radiation with the omission of axillary staging and systemic therapies. Full article
(This article belongs to the Special Issue Rare Breast Tumors)
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20 pages, 1178 KiB  
Review
Idiopathic Granulomatous Mastitis as a Benign Condition Mimicking Inflammatory Breast Cancer: Current Status, Knowledge Gaps and Rationale for the GRAMAREG Study (EUBREAST-15)
by Natalia Krawczyk, Thorsten Kühn, Nina Ditsch, Steffi Hartmann, Oreste Davide Gentilini, Annette Lebeau, Jana de Boniface, Markus Hahn, Güldeniz Karadeniz Çakmak, Sadaf Alipour, Vesna Bjelic-Radisic, Hans-Christian Kolberg, Toralf Reimer, Maria Luisa Gasparri, Nikolas Tauber, Melissa Neubacher and Maggie Banys-Paluchowski
Cancers 2024, 16(19), 3387; https://doi.org/10.3390/cancers16193387 - 3 Oct 2024
Viewed by 2900
Abstract
Background: Idiopathic granulomatous mastitis (IGM) is a rare, benign inflammatory breast condition often mistaken for inflammatory breast cancer and, therefore, requires a biopsy for accurate diagnosis. Although not cancerous, IGM can cause emotional distress because of severe pain and ensuing breast deformity. Differentiating [...] Read more.
Background: Idiopathic granulomatous mastitis (IGM) is a rare, benign inflammatory breast condition often mistaken for inflammatory breast cancer and, therefore, requires a biopsy for accurate diagnosis. Although not cancerous, IGM can cause emotional distress because of severe pain and ensuing breast deformity. Differentiating IGM from other breast inflammations caused by infections is essential. IGM mostly affects premenopausal women and is potentially associated with recent pregnancies and breastfeeding. The risk factors, including smoking and contraceptive use, have inconsistent associations. Steroid responses suggest an autoimmune component, though specific markers are lacking. Methods: We performed a narrative review on potential risk factors, diagnostics, and therapy of IGM. Results: Diagnostics and clinical management of IGM are challenging. The treatment options include NSAIDs, steroids, surgery, antibiotics, immunosuppressants, prolactin suppressants, and observation, each with varying effectiveness and side effects. Conclusions: Current IGM treatment evidence is limited, based on case reports and small series. There is no consensus on the optimal management strategy for this disease. The GRAMAREG study by the EUBREAST Study Group aims to collect comprehensive data on IGM to improve diagnostic and treatment guidelines. By enrolling patients with confirmed IGM, the study seeks to develop evidence-based recommendations, enhancing patient care and understanding of this condition. Full article
(This article belongs to the Special Issue Rare Breast Tumors)
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