Research Articles (Anatomical Pathology)
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Browsing Research Articles (Anatomical Pathology) by Subject "Breast -- Cancer -- Diagnosis"
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- ItemAn evaluation of the diagnostic adequacy and immunocytochemistry of manual liquid-based smears in breast aspirates(Medpharm Publications, 2013) Shibemba, A. L.; Wright, C. A.; Bezuidenhout, J.; Schubert, P. T.The aim of this study was to determine if the Syner-Med®/Cell-Solutions® liquid-based cytology (LBC) technique would provide adequate diagnostic material when applied to breast fine-needle aspiration biopsy (FNAB) specimens and to determine its suitability for immunocytochemistry. A prospective study was undertaken of 38 consecutive patients who underwent FNAB of breast masses in the Fine Needle Aspiration Clinic at Tygerberg Hospital, Cape Town, over a period of six months. Conventional smear cytology slides (CSC) were formulated and the material that remained in the needle was used to prepare the LBC Syner-Med®/Cell-Solutions® slides. The CSC and LBC slides were evaluated by two pathologists. The assessed parameters were cellularity, background and representative diagnostic material. Immunocytochemical stains for pancytokeratin (MNF-116) and oestrogen receptor were performed in each case. In 33 cases (87%), LBC compared favourably with CSC. Adequacy rates of 84.2% for CSC and 76.3% for LBC were found. A diagnosis was made in 78.9% of the CSC cases and in 71% of the LBC cases. The LBC slides showed excellent results, with immunocytochemical staining for MNF-116 and oestrogen receptor. The Syner-Med®/Cell-Solutions® LBC fixative and preparation method provides an alternative technique for obtaining well fixed and prepared slides that are suitable for diagnostic cytology and immunocytochemistry.
- ItemExome sequencing in a family with luminal-type breast cancer underpinned by variation in the methylation pathway(MDPI, 2017-02-22) Van der Merwe, Nicole; Peeters, Armand V.; Pienaar, Fredrieka M.; Bezuidenhout, Juanita; Van Rensburg, Susan J.; Kotze, Maritha J.ENGLISH ABSTRACT: Panel-based next generation sequencing (NGS) is currently preferred over whole exome sequencing (WES) for diagnosis of familial breast cancer, due to interpretation challenges caused by variants of uncertain clinical significance (VUS). There is also no consensus on the selection criteria for WES. In this study, a pathology-supported genetic testing (PSGT) approach was used to select two BRCA1/2 mutation-negative breast cancer patients from the same family for WES. Homozygosity for the MTHFR 677 C>T mutation detected during this PSGT pre-screen step was considered insufficient to cause bilateral breast cancer in the index case and her daughter diagnosed with early-onset breast cancer (<30 years). Extended genetic testing using WES identified the RAD50 R385C missense mutation in both cases. This rare variant with a minor allele frequency (MAF) of <0.001 was classified as a VUS after exclusion in an affected cousin and extended genotyping in 164 unrelated breast cancer patients and 160 controls. Detection of functional polymorphisms (MAF > 5%) in the folate pathway in all three affected family members is consistent with inheritance of the luminal-type breast cancer in the family. PSGT assisted with the decision to pursue extended genetic testing and facilitated clinical interpretation of WES aimed at reduction of recurrence risk.