Browsing by Author "Baatjes, Karin"
Now showing 1 - 5 of 5
Results Per Page
Sort Options
- ItemImplementation of a breast cancer genetic service in South Africa - lessons learned(Health & Medical Publishing Group, 2013-06-25) Schoeman, Mardelle; Apffelstaedt, Justus P.; Baatjes, Karin; Urban, MichaelBackground. Genetic testing for BRCA mutations has been available in the Western Cape of South Africa since 2005, but practical implementation of genetic counselling and testing has been challenging. Objective. To describe an approach to breast cancer genetic counselling and testing developed in a resource-constrained environment at Tygerberg Hospital in Cape Town, Western Cape. Methods. Genetic counselling is offered in a stepwise manner to our diverse patient population, with a focus on affected probands, and subsequent cascade testing. A record review of BRCA testing between 2005 and 2011 was performed. Results. During this period 302 probands received genetic testing, with increasing numbers tested over time. Of 1 520 women treated for breast cancer since 2008, 226 (14.9%) accepted BRCA testing, and 39 tested positive (17.3% of those tested, and 2.6% of all women). Common founder mutations were detected in 11.9% of women (36/302), and comprised 73% (36/49) of mutations detected. Cascade testing increased after 2010: 16 female and 4 male family members of 19 probands accepted testing, with 6 positives being detected. Conclusion. A protocol-driven approach focusing on probands, with initial pre-test counselling by primary care staff has proven effective in establishing the service. Involvement of a clinical geneticist/genetic counsellor has permitted more detailed post-test counselling and increased use of cascade testing.
- ItemMalignant peripheral nerve sheath tumours and neurofibromatosis 1 : a case series and recommendations for care(AOSIS, 2018-08-20) Burger, Henriette; Bezuidenhout, Heidre; Sher-Locketz, Candice; Baatjes, Karin; Van Wyk, Jacques; Bonthuys, AnitaBackground: The incidence of malignant peripheral nerve sheath tumours (MPNST) in patients with neurofibromatosis 1 (NF1) is significantly higher than that of the general population. NF1-associated MPNST occur at a younger age and carry a worse prognosis than sporadic MPNST. Aim: This case series describes four cases of MPNST in patients with NF1. Setting: The study was performed in a public academic hospital in the Western Cape province of South Africa. Method: Demographics, disease status, histopathology, treatment and outcome data were collected retrospectively from medical charts and through review of histological slides. Results: The median age was 36.5 years. All tumours were > 5 cm at presentation and located on the trunk. One patient presented with metastatic disease. There was a mean delay of 3.5 months from presentation to initiation of treatment. Three patients underwent wide excision, with one receiving adjuvant chemotherapy and radiotherapy. At a median follow-up of 20 months from histological diagnosis only one patient was alive in clinical remission. Two patients had succumbed to progressive disease at 8 and 16 months from diagnosis and one patient with terminal metastatic disease was lost to follow-up. Conclusion: In this series the patients presented with advanced, often unresectable lesions for which single modality therapy was not curative. An adult NF1 health surveillance guideline for resource-constrained environments could lead to early diagnosis and treatment of MPNST and other complications in NF1 patients.
- ItemMammographic screening for breast cancer in a resource-restricted environment(Health & Medical Publishing Group, 2014-04) Apffelstaedt, Justus P.; Dalmayer, Lisa; Baatjes, KarinBackground. Mammographic screening is carried out at public sector hospitals as part of clinical practice. Objective. We report the experience of such screening at Tygerberg Academic Hospital (TBAH), a tertiary referral hospital in the Western Cape Province, South Africa. Methods. All mammograms performed between 2003 and 2012 at TBAH were analysed regarding patient demographics, clinical data, indication and outcome according to the American College of Radiology Breast Imaging Reporting and Data System (BIRADS). Screening mammography was offered to patients >40 years of age and mammograms were read by experienced breast surgeons. Patients with BIRADS 3 and 4 lesions were recalled for short-term follow-up, further imaging or tissue acquisition. Patients with BIRADS 5 lesions were recalled for tissue acquisition. Further imaging, method of tissue acquisition, histology results and use of neo-adjuvant therapy were also recorded. Results. Of 16 105 mammograms, 3 774 (23.4%) were carried out for screening purposes. The median age of patients undergoing screening was 54 years. Of 407 women with mammograms that were reported as BIRADS 3 - 5 (10.8% of screening mammograms), 187 (46% of recalled women) went on to have further imaging only. Tissue was acquired in 175 patients (43% of recalled women), comprising a biopsy rate of 4.6% of the total series. The malignancy rate in cases in which tissue acquisition was done was 25%. Forty-three breast cancers were diagnosed (11.4/1 000 examinations). Of the cancers, nine (31%) were ductal carcinomas in situ. Of 20 invasive cancers, nine (45%) were <10 mm in size. Of the invasive cancers, 40% were node-positive. Conclusions. The cancer diagnosis rate indicates a high breast cancer load in an urbanised population.
- ItemMammography reporting at Tygerberg Hospital, Cape Town, South Africa(Health & Medical Publishing Group, 2014-07) Pitcher, Richard; Lotz, Jan; Ackermann, Christelle; Bagadia, Asif; Davis, Razaan; Du Plessis, Anne-Marie; Griffith-Richards, Stephanie; Hattingh, Retha; Wagener, Georg; Apffelstaedt, Justus; Dalmayer, Lisa; Baatjes, KarinIn their recent article, Apffelstaedt et al.[1] analysed 16 105 mammograms performed at Tygerberg Hospital (TBH), Cape Town, South Africa (SA), between 2003 and 2012. The summary reported that ‘mammograms were read by experienced breast surgeons’, while the discussion stated: ‘A further noteworthy fact is that this TBH series was based exclusively on mammography interpretation by surgeons with a special interest in breast health.’ The suggestion that mammograms were exclusively interpreted by breast surgeons does not reflect the mammography workflow at our institution.
- ItemResults of a pilot programme of mammographic breast cancer screening in the Western Cape(Health & Medical Publishing Group, 2014-04) Apffelstaedt, Justus P.; Hattingh, Retha; Baatjes, Karin; Wessels, NatalieBackground. Mammographic screening programmes are now established in developing countries. We present an analysis of the first screening programme in sub-Saharan Africa. Methods. Women aged ≥40 years were identified at three primary healthcare centres in the Western Cape Province, South Africa, and after giving informed consent underwent mammography at a mobile unit. After a single reading, patients with American College of Radiology Breast Imaging Reporting and Data System (BIRADS) 3 - 5 lesions were referred to a tertiary centre for further management. Results. Between 1 February 2011 and 31 August 2012, 2 712 screening mammograms were performed. A total of 261 screening mammograms were reported as BIRADS 3 - 5 (recall rate 9.6%). Upon review of the 250 available screening mammograms, 58 (23%) were rated benign or no abnormalities (BIRADS 1 and 2) and no further action was taken. In 32 women, tissue was acquired (biopsy rate for the series 1.2%); 10 cancers were diagnosed (biopsy malignancy rate 31%). For the entire series of 2 712 screening mammograms, the cancer diagnosis rate was 3.7/1 000 examinations. Of 10 cancers diagnosed at screening, 5 were TNM clinical stage 0, 2 stage I and 3 stage II. Conclusions. The low cancer detection rate achieved, and the technical and multiple administrative problems experienced do not justify installation of a screening programme using the model utilised in this series.