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Invasive papillary carcinoma (IPC) of the breast is a rare form of cancer. The current report documents a case of IPC characterized by a large tumor size and skin involvement. Surgical exploration revealed no evidence of axillary lymph node metastasis in breast cancer. Due to financial constraints, the patient opted solely for anastrozole endocrine therapy at a dosage of 1 mg/day for a period of 5 years post-surgery, foregoing other treatments such as radiotherapy and chemotherapy. Since discharge, 2.5 years have passed, during which the patient has been followed up via phone every 3 months, showing a good prognosis. A literature review indicated that IPC is prevalent amongst the elderly population and can be misdiagnosed due to its morphological, cytomorphological and immunophenotypic overlap with other types of papillary neoplasms. This tumor exhibits a more favorable prognosis compared with IDC, primarily attributed to its advantageous gene and molecular expression patterns, coupled with its decreased invasiveness. Despite limited evidence-based research on the treatment of IPC, the present case report, albeit with limitations, underscores the importance of avoiding over-treatment and suggests the feasibility of combining surgery with endocrine therapy for IPC.

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Invasive papillary carcinoma is a rare form of breast cancer that is more likely to occur in postmenopausal women. Previous studies have been limited to case reports and small retrospective studies, leading to low awareness of this type of tumor and difficult clinical management. According to the available literature, invasive papillary carcinoma exhibits unique pathological features and biological behaviors. Invasive papillary carcinoma is mostly luminal type, with a low rate of lymph node metastasis, which underlies its favorable prognosis. The effectiveness of adjuvant therapy in reducing tumor burden and improving prognosis in patients with invasive papillary carcinoma remains uncertain. Due to the rarity of the lesion, conducting prospective clinical trials is impractical. The use of biological models, such as organoids, can help alleviate the impact of the scarcity of this condition on research. In addition, invasive papillary carcinoma is affected by specific genomic events, and more extensive studies of gene expression profiling may provide molecular-level insights to make optimal therapeutic decisions.

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Breast cancer is the most common cancer among women globally and can be classified according to various histological subtypes. Current treatment strategies are typically based on the cancer stage and molecular subtypes. This article aims to address the knowledge gap in the understanding of rare breast cancer. A retrospective study was conducted on 4393 breast cancer patients diagnosed from 1992 to 2012, focusing on five rare subtypes: mucinous, invasive lobular, papillary, mixed invasive and lobular, and pure tubular/cribriform carcinomas. Our analysis, supplemented by a literature review, compared patient characteristics, disease characteristics, and survival outcomes of rare breast cancer patients with invasive carcinoma (not otherwise specified (NOS)). Comparative analysis revealed no significant difference in overall survival rates between these rare cancers and the more common invasive carcinoma (NOS). However, mucinous, papillary, and tubular/cribriform carcinomas demonstrated better disease-specific survival. These subtypes presented with similar characteristics such as early detection, less nodal involvement, more hormonal receptor positivity, and less human epidermal growth factor receptor 2 (HER2) positivity. To conclude, our study demonstrated the diversity in the characteristics and prognosis of rare breast cancer histotypes. Future research should be carried out to investigate histotype-specific management and targeted therapies, given their distinct behavior.

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Primary small cell carcinoma of the breast (PSCCB) is a rare and aggressive tumor. Due to the small number of PSCCB cases, there are no established treatment protocols. We report a case of a 55-year-old perimenopausal woman who presented with a palpable left breast mass. A breast mass biopsy was performed, and pathology was consistent with poorly differentiated neuroendocrine small cell carcinoma. Imaging with magnetic resonance imaging (MRI) and positron emission tomography (PET) excluded metastatic disease. Due to recurrent positive margins, the patient underwent two lumpectomies and received neoadjuvant chemotherapy in between procedures. She ultimately underwent a left mastectomy and received postoperative radiation therapy. This case report aims to highlight the challenges that ensue following a diagnosis of PSCCB and underscores the need for creating a standardized treatment model for these vulnerable patients.

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In this series of case reports, we present two women diagnosed with rare cancer, adenoid cystic carcinoma (ACC) of the breast. Though this neoplasm has a relatively favorable prognosis, more information regarding its pathophysiology, response to variable treatments, and long-term prognosis is needed. The objective of our case series is to present the medical decisions and clinical courses of a 50-year-old female and a 79-year-old female with ACC of the breast. Through ongoing shared knowledge from cases like ours and further experimental research, a more reliable diagnostic and treatment algorithm can be substantiated.

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INTRODUCTION AND IMPORTANCE: Primary angiosarcoma of the breast is a rare malignancy with an associated poor prognosis due to its high rates of reoccurrence and metastasis It is most common in females presenting in their 3rd and 4th decades with no evidence of hormonal dependency. Cases usually present with rapidly progressing non-tender breast lump. CASE PRESENTATION: A 75-year-old female referred for triple assessment of a rapidly enlarging right breast lump. The patient underwent multiple investigations for work-up and to aid in the diagnosis of a moderately differentiated angiosarcoma of the breast. CLINICAL DISCUSSION: Diagnostic dilemmas remain due to the non-specific findings on standard radiological investigations and high false-negative results on core-biopsy. Consideration should be made in those with a high clinical suspicion for magnetic resonance imaging and excisional biopsy. Although limited research, first line management of those without metastatic disease is radical surgery. CONCLUSION: Breast primary angiosarcoma is a rare entity in post-menopausal women that should be considered in the differentials of breast lumps. Standardized information is limited though current management includes local control with radical surgery. The role for neoadjuvant therapy, adjuvant radiotherapy or chemotherapy is still unclear.

RESUMEN

Small-cell breast carcinoma (SCBC) is a very rare type of aggressive breast cancer constituting less than 1% of all breast cancers. The WHO classification categorizes this tumor as small-cell neuroendocrine carcinoma, and its prognosis is usually worse as compared to invasive breast cancers. We report a 64-year-old Caucasian female who presented with a large fungating left breast mass. Biopsy of the mass revealed small-cell carcinoma of the breast, negative for all 3 receptors (estrogen, progesterone, and Her2/neu). Imaging studies were negative for distant metastasis. She was subsequently treated after multidisciplinary discussion utilizing neoadjuvant chemotherapy with platinum agents and etoposide, modified radical mastectomy with axillary lymph node dissection, and adjuvant radiation therapy. Since she has triple-negative small-cell breast cancer, she will be followed with active surveillance without hormonal therapy. With less than 100 cases reported and in the absence of evidence-based standard treatment guidelines, we have reviewed various case series reported in the literature. We further discuss various chemotherapy regimens used previously, adverse prognostic factors of breast neuroendocrine tumors, common receptor status, and genetic mutations found in SCBC.

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Invasive breast cancer is a heterogeneous disease, both in its histopathological classification and clinical course. Glycogen-rich clear cell carcinoma of the breast is an extremely rare subtype of invasive breast carcinoma, accounting for up to 3% of all breast carcinomas. The tumor is composed of polygonal cells with abundant clear cytoplasm containing glycogen and has a very controversial prognosis. Solid papillary pattern is an uncommon morphological variant of breast carcinoma which is associated with indolent behavior in the absence of an invasive component. To date, there are only three cases of glycogen-rich clear cell carcinoma with solid papillary pattern reported in the English literature. In this article, we present two cases of glycogen-rich clear cell carcinoma of the breast, encountered in our daily clinical practice over a period of 5 years (2015-2020) and perform a brief review of currently published literature. Unlike most cases of glycogen-rich clear cell carcinoma documented to date, follow-up of our case featuring solid papillary pattern revealed extremely favorable clinical outcome, suggesting a better prognosis for tumors with this morphology.

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PURPOSE OF REVIEW: Breast cancer is a collection of diseases including the more common invasive ductal and lobular carcinomas and rarer subtypes of breast cancer. This review summarizes the features of rare breast cancers. RECENT FINDINGS: Each of the rare tumors has defined pathological and clinical features that impact treatment recommendations. In this review, we summarize these for each rare type of breast cancer and where available we include molecular features of each tumor. Rare subtypes of breast cancer each have unique features. In many cases, data is limited for the optimal treatment approaches.

Asunto(s)

Neoplasias de la Mama/clasificación , Neoplasias de la Mama/patología , Enfermedades Raras/diagnóstico , Enfermedades Raras/patología , Toma de Decisiones Clínicas , Diagnóstico Diferencial , Femenino , Humanos , Clasificación del Tumor , Patología Clínica/métodos

RESUMEN

We report the case of a 49-year-old woman diagnosed with a rare histotype of early breast cancer (BC), invasive ductal carcinoma with osteoclast-like giant cells (OGCs), from the perspective of gene profile analysis tests. The patient underwent a quadrantectomy of the right breast with removal of 2 cm neoplastic nodule and three ipsilateral sentinel lymph nodes. The Oncotype Dx gave a recurrence score (RS) of 23, and taking into account the patient's age, an RS of 23 corresponds to a chemotherapy benefit of 6.5%. After a multidisciplinary collegial discussion, and in consideration of the patient's age, the absence of comorbidity, the premenopausal state, the rare histotype and the Oncotype Dx report, the patient was offered adjuvant chemotherapy treatment followed by hormone therapy. This case may be an example of the utility of integrating gene expression profiling tests into clinical practice in the adjuvant treatment decision of a rare histotype BC. The Oncotype Dx test required to supplement the histological examination made us opt for the proposal of a combined treatment of adjuvant chemotherapy followed by adjuvant hormone therapy. It demonstrates the importance of considering molecular tests and, in particular, the Oncotype Dx, in estimating the risk of disease recovery at 10 years in order to identify patients who benefit from hormone therapy alone versus those who benefit from the addition of chemotherapy, all with a view toward patient-centered oncology. Here, we discuss the possible validity and limitations of the Oncotype Dx in a rare luminal A-like histotype with high infiltrate of stromal/inflammatory cells.

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INTRODUCTION: Metaplastic breast carcinoma (MBC) is a rare and aggressive histologic subtype of breast cancer comprising approximately 0.5% to 5.0% of all invasive breast cancers with a poor prognosis and limited therapeutic options. PATIENTS AND METHODS: We investigated MBC at our institution to evaluate outcomes and investigate the molecular profile of our cohort to determine the presence of mutations for which there are targeted therapies. RESULTS: We found our cohort to consist mainly of the matrix-producing variant (72%) with 48% having the stereotypical estrogen receptor-negative/progesterone receptor-negative/human epidermal growth factor receptor-2-negative phenotype. While the overall survival of our cohort was an average of 1679 days (4.6 years), we had a surprising number of patients with second primaries (40%) and distant metastases (40%), yet few recurrences (12%). Molecular analysis of the tumors indicated that one gene mutation, CSFIR, was significantly associated with outcome (P = .021); however, the cohort was defined by frequent mutations in ERBB4 (36%), PIK3CA (48%), and FLT3 (60%), for which there are now targeted therapies. CONCLUSION: While surgery is the appropriate first step in the management of this aggressive malignancy, the collection of data pertaining to the use of targeted agents, although anecdotal, may provide clues to better treatment for these patients.

Asunto(s)

Biomarcadores de Tumor/genética , Neoplasias de la Mama/clasificación , Neoplasias de la Mama/patología , Carcinoma Ductal de Mama/secundario , Metaplasia/patología , Recurrencia Local de Neoplasia/patología , Neoplasias de la Mama/genética , Neoplasias de la Mama/metabolismo , Carcinoma Ductal de Mama/genética , Carcinoma Ductal de Mama/metabolismo , Carcinoma de Células Escamosas/genética , Carcinoma de Células Escamosas/metabolismo , Carcinoma de Células Escamosas/secundario , Fosfatidilinositol 3-Quinasa Clase I/genética , Femenino , Estudios de Seguimiento , Humanos , Metástasis Linfática , Metaplasia/genética , Metaplasia/metabolismo , Clasificación del Tumor , Invasividad Neoplásica , Recurrencia Local de Neoplasia/genética , Estadificación de Neoplasias , Pronóstico , Receptor ErbB-2/metabolismo , Receptor ErbB-4/genética , Receptores del Factor Estimulante de Colonias/genética , Receptores de Estrógenos/metabolismo , Receptores de Progesterona/metabolismo , Estudios Retrospectivos , Tasa de Supervivencia , Tirosina Quinasa 3 Similar a fms/genética

RESUMEN

We present a rare case of recurrent primary breast lymphoma involving the nipple-areolar complex and review literature on primary breast lymphoma, its clinical presentation and management. It is diagnosed by histopathology. It needs multimodality management protocols.