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The Cytopathology of Metastatic Breast Cancer
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The Cytopathology of Metastatic Breast Cancer

A special issue of Journal of Molecular Pathology (ISSN 2673-5261).

Deadline for manuscript submissions: closed (30 September 2022) | Viewed by 20691

Special Issue Editors

Prof. Dr. Fernando Schmitt

E-Mail Website
Guest Editor
Medical Faculty of Porto University and Institute of Molecular Pathology and Immunology of Porto University (IPATIMUP), 4200-135 Porto, Portugal
Interests: molecular pathology; cytopathology; breast cancer
Prof. Dr. Gary M. K. Tse

E-Mail Website
Guest Editor
Prince of Wales Hospital, The Chinese University of Hong Kong, Ngan Shing Street. Sjatin, Hong Kong
Interests: histopathology; cytopathology; breast cancer

Special Issue Information

Dear Colleagues,

Cytology has long been an integral part of the management of primary and metastatic cancers. Aspiration cytology is particularly favored for the assessment of breast cancers, as the breast and axillary lymph nodes are both superficial and cosmetically sensitive. In addition to cytomorphologic diagnoses, cytological material can be processed for ancillary testing. The demand and application of cytology on metastatic breast cancer is consistently expanding with the advancement in radiological and endoscopic techniques for obtaining cytological samples, evolution in histological and cytological classification of breast cancers, and in the increase in biomarkers and molecular tests available for advanced breast cancers. This Special Issue aims to address the recent developments in the cytopathology of metastatic breast cancers, including the diagnostic approach to identify a metastatic lesion originated from breast, histological correlation in the identification of subtypes, assessment of nodal diseases and the application of immunohistochemical and molecular tests in cytological materials.

Prof. Dr. Fernando Schmitt
Prof. Dr. Gary M. K. Tse
Guest Editors

Manuscript Submission Information

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Keywords

  • metastasis
  • breast
  • fine needle aspiration cytology

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Published Papers (5 papers)

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Research

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9 pages, 2666 KiB  
Article
Comparison of GATA3, GCDFP15, Mammaglobin and SOX10 Immunocytochemistry in Aspirates of Metastatic Breast Cancer
by Joshua J. X. Li, Joanna K. M. Ng, Conrad H. C. Lee, Cheuk-Yin Tang, Julia Y. S. Tsang and Gary M. Tse
J. Mol. Pathol. 2022, 3(4), 219-227; https://doi.org/10.3390/jmp3040019 - 13 Oct 2022
Cited by 3 | Viewed by 2309
Abstract
Introduction: Metastatic cancers are frequently detected on fine-needle aspiration (FNA) cytology, and confirmation of metastatic breast cancer often requires immunocytochemistry. Tissue provisioning for FNA specimens is important. In this study, GATA3, gross cystic disease fluid protein-15 (GCDFP15), mammaglobin (MMG), and SOX10 were performed [...] Read more.
Introduction: Metastatic cancers are frequently detected on fine-needle aspiration (FNA) cytology, and confirmation of metastatic breast cancer often requires immunocytochemistry. Tissue provisioning for FNA specimens is important. In this study, GATA3, gross cystic disease fluid protein-15 (GCDFP15), mammaglobin (MMG), and SOX10 were performed on cell block preparations from aspirates of histologically confirmed metastatic breast cancers. The diagnostic performance of single markers and combinations of these markers were investigated with the aim to construct a tissue-efficient immunopanel. Methodology: Aspirates of metastatic breast cancer with corresponding histology and biomarker (estrogen receptor (ER), progesterone receptor (PR), HER2 and ki67) profile were retrieved. ER, GATA3, GCDFP15, MMG and SOX10 immunostains were performed on cell block sections and their expressions were assessed and compared. Results: Immunostaining was performed on a total of 115 aspirates. GATA3 showed the highest expression, followed by MMG, GCDFP15 and SOX10. Twenty-three, five and five cases expressed GATA3, MMG and SOX10 only. The five cases expressing SOX10 only were ER negative, and SOX10 expression was negatively associated with ER (p = 0.001), MMG (p = 0.001), GCDFP15 (p = 0.010) and GATA3 (p = 0.002), whereas GATA3 expression showed positive correlation with ER positivity (p < 0.001). MMG and GCDFP15 showed association with high Ki67 (p < 0.05), and no correlations were found with HER2 expression. Conclusion: In this cohort, GATA3 was the most sensitive single marker. The addition of MMG and SOX10 increases the sensitivity for detection of ER positive and ER negative breast cancers, respectively. These findings support the use of a combination of GATA3/MMG/SOX10 for confirmation of metastatic breast cancer. Full article
(This article belongs to the Special Issue The Cytopathology of Metastatic Breast Cancer)
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Review

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14 pages, 4086 KiB  
Review
Metastatic Breast Cancer: Cytology Diagnosis with Implications for Treatment
by Alaa Hrizat and Elena Brachtel
J. Mol. Pathol. 2023, 4(1), 1-14; https://doi.org/10.3390/jmp4010001 - 24 Dec 2022
Cited by 3 | Viewed by 5327
Abstract
Breast cancer is among the most frequent malignancies in women worldwide. While early detection and effective treatment provide many women with a cure and prevent their cancer from spreading, metastases to distant sites still occur in around 20% of women suffering from breast [...] Read more.
Breast cancer is among the most frequent malignancies in women worldwide. While early detection and effective treatment provide many women with a cure and prevent their cancer from spreading, metastases to distant sites still occur in around 20% of women suffering from breast cancer. These relapses occur in many forms and locations and are as varied as the primary breast tumors. Metastatic spread makes a cancer incurable and potentially lethal, but new, targeted treatments can offer control of the cancer cells if the features of new targets are unlocked by advanced diagnostic testing. The article offers an overview of the pathomechanisms of metastatic progression and describes the types of metastases, such as hormone-receptor-positive and -negative breast cancers, and HER2-overexpressing or triple-negative types. Once distant metastatic spread occurs, cytology allows a precise diagnosis to confirm the breast origin. Other molecular targets include ESR1 and PIK3CA mutations, MSI, NTRK fusion, PD-L1 expression and others, which can be obtained also from cytology material and used to determine eligibility for emerging targeted therapeutic options. We outline the diagnostic features of metastatic breast cancer in cytology samples, together with validated and emergent biomarkers that may provide new, targeted treatment options. Full article
(This article belongs to the Special Issue The Cytopathology of Metastatic Breast Cancer)
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10 pages, 537 KiB  
Review
Optimal Assessment of Metastatic Breast Carcinoma: The Value of Cytopathology Combined with Molecular Analysis
by Ricella Souza da Silva and Fernando Schmitt
J. Mol. Pathol. 2022, 3(4), 329-338; https://doi.org/10.3390/jmp3040028 - 22 Nov 2022
Cited by 3 | Viewed by 2095
Abstract
Metastatic breast cancer (MBC) remains in most cases an incurable disease with genetic complexity and heterogeneity. Improvements in classification and management have been introduced, in addition to the development of endocrine and anti-HER2 targeted therapies. Currently, efforts are being made to delineate the [...] Read more.
Metastatic breast cancer (MBC) remains in most cases an incurable disease with genetic complexity and heterogeneity. Improvements in classification and management have been introduced, in addition to the development of endocrine and anti-HER2 targeted therapies. Currently, efforts are being made to delineate the best approach for the genomic landscape of MBC and, as result, molecular therapeutic targets. Here, we highlight the recent developments in the cytopathology of MBC, discussing cytological diagnostic approaches in the characterization of hallmarks, such as immunocytochemistry and genomic biomarkers. Cytological material can be processed for ancillary testing for diagnostic and therapeutic purposes. Reassessment of receptor status is indicated due to changes in tumor biology and metastatic presentation. PD-L1 expression is the only approved biomarker for predicting immune checkpoint inhibitor response in metastatic TNBC, evaluated by immunostaining. The feasibility of applying PD-L1 assays in MBC cytological samples can be recommended, with the adoption of a combined positive score. Non-formalin cytological samples provide higher purity, cellular yield, and better tumor fraction for single-multi gene assays. In MBC, molecular tests enable personalized therapy such as PIK3CA, NTRK fusion genes, and MSI. Cytopathology combined with molecular analysis must be performed effectively in routine clinical practice, through procedure standardization and experience dissemination. Full article
(This article belongs to the Special Issue The Cytopathology of Metastatic Breast Cancer)
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14 pages, 2302 KiB  
Review
Comprehensive Review of Metastatic Breast Carcinoma in Cytology Specimens
by Swikrity U. Baskota, Daniel Qazi, Ashish Chandra and Poonam Vohra
J. Mol. Pathol. 2022, 3(4), 293-306; https://doi.org/10.3390/jmp3040025 - 7 Nov 2022
Cited by 3 | Viewed by 5583
Abstract
Breast carcinomas are known to metastasize to various organs of the human body. Fine needle aspiration cytology or exfoliative cytology often are the standard method for diagnosis at these metastatic sites due to ease of procurement of diagnostic material, accessibility, less complications, high [...] Read more.
Breast carcinomas are known to metastasize to various organs of the human body. Fine needle aspiration cytology or exfoliative cytology often are the standard method for diagnosis at these metastatic sites due to ease of procurement of diagnostic material, accessibility, less complications, high sensitivity, and specificity of diagnosis and evaluation of biomarker status needed to guide future management. This comprehensive review article discusses in detail metastatic patterns, cytomorphology of metastatic breast cancer at different body sites, immunohistochemistry needed for diagnosis of breast carcinoma, sensitivity and specificity of diagnosis and breast biomarker assays in the cytology material. Full article
(This article belongs to the Special Issue The Cytopathology of Metastatic Breast Cancer)
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15 pages, 18353 KiB  
Review
The Value of Fine Needle Aspiration Biopsy in the Pre-Operative Assessment of the Axilla in Breast Cancer Patients
by Wendy A. Raymond and Pakan Kleinig
J. Mol. Pathol. 2022, 3(4), 228-242; https://doi.org/10.3390/jmp3040020 - 18 Oct 2022
Viewed by 3936
Abstract
This paper reviews the role of fine needle aspiration biopsy (FNAB) in assessing the axilla prior to definitive surgery or neoadjuvant therapy in breast cancer patients. The radiological criteria for biopsy are discussed and pathological techniques and pitfalls illustrated. The sensitivity and specificity [...] Read more.
This paper reviews the role of fine needle aspiration biopsy (FNAB) in assessing the axilla prior to definitive surgery or neoadjuvant therapy in breast cancer patients. The radiological criteria for biopsy are discussed and pathological techniques and pitfalls illustrated. The sensitivity and specificity of the technique and the clinical utility are addressed, with particular reference to the current controversies in the management of the axilla in the light of the American College of Surgeons Oncology Group Z0011 trial results. The low morbidity procedure of FNAB is recommended when the radiological and clinical features suggest a high yield from the abnormal axillary nodes, with consideration of core biopsy if an expected positive result is not obtained or the circumstances require tissue for ancillary studies. In conclusion, FNAB of the axilla is a highly sensitive procedure which can offer further valuable information to assist in clinical decision making. The technique is of particular value in the setting of a large primary tumour size and multiple enlarged nodes. A summary flow chart is provided to facilitate pre-operative management of the axilla and to encourage a universal approach. Full article
(This article belongs to the Special Issue The Cytopathology of Metastatic Breast Cancer)
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