BackgroundIdentifying patients with BRCA mutations is clinically important to inform on the potential response to treatment and for risk management of patients and their relatives. However, traditional referral routes may not meet clinical needs, and therefore, mainstreaming cancer genetics has been shown to be effective in some high-income and high health-literacy settings. To date, no study has reported on the feasibility of mainstreaming in low-income and middle-income settings, where the service considerations and health literacy could detrimentally affect the feasibility of mainstreaming.MethodsThe Mainstreaming Genetic Counselling for Ovarian Cancer Patients (MaGiC) study is a prospective, two-arm observational study comparing oncologist-led and genetics-led counselling. This study included 790 multiethnic patients with ovarian cancer from 23 sites in Malaysia. We compared the impact of different method of delivery of genetic counselling on the uptake of genetic testing and assessed the feasibility, knowledge and satisfaction of patients with ovarian cancer.ResultsOncologists were satisfied with the mainstreaming experience, with 95% indicating a desire to incorporate testing into their clinical practice. The uptake of genetic testing was similar in the mainstreaming and genetics arm (80% and 79%, respectively). Patient satisfaction was high, whereas decision conflict and psychological impact were low in both arms of the study. Notably, decisional conflict, although lower than threshold, was higher for the mainstreaming group compared with the genetics arm. Overall, 13.5% of patients had a pathogenic variant in BRCA1 or BRCA2, and there was no difference between psychosocial measures for carriers in both arms.ConclusionThe MaGiC study demonstrates that mainstreaming cancer genetics is feasible in low-resource and middle-resource Asian setting and increased coverage for genetic testing.
IntroductionThe management of locally advanced inoperable malignant thymoma is difficult as there are no large randomized clinical trial data to guide treatment. However various case series have shown that malignant thymoma is often a chemosensitive disease. Cisplatin-based chemotherapy has been the gold-standard in the management of these patients. However when thymic cancers are complicated by paraneoplastic syndromes that damage kidney and neurological function, cisplatin use is often contraindicated.Case presentationWe report a case of a 37 year old man with locally advanced malignant thymoma complicated by significant nephrotic syndrome and renal impairment. He responded to a novel combination of carboplatin, epirubicin and cyclophosphamide chemotherapy used as first line therapy.ConclusionThe treatment with chemotherapy of locally advanced malignant thymoma complicated by nephrotic syndrome and renal impairment is difficult due to the increase of toxicity. In this case, a novel chemotherapy combination with lesser toxicity was used successfully. In addition this chemotherapy combination did not impede the later use of conventional cisplatin-based chemotherapy. Therefore we suggest a course of carboplatin-based chemotherapy for locally advanced malignant thymoma in patients who are unsuitable for cisplatin.
We present the first published case of a patient with Loeys-Dietz syndrome (LDS) who was treated with radical chemoradiotherapy for an oropharyngeal carcinoma. In view of this newly recognised connective tissue disease, the uncertainty of severe toxicity from chemoradiotherapy to treat a potentially curative cancer posed a management challenge. The patient was treated with chemoradiotherapy and remains well with no evidence of recurrence at 3 years. Furthermore, we have observed minimal late effects secondary to chemoradiotherapy at 3 years following the completion of treatment suggesting that the underlying pathogenesis of LDS may provide an interesting human model to further elucidate the complex interactions of transforming growth factor β1 (TGF-β1) and tissue fibrosis secondary to chemoradiotherapy. A review of LDS as well as the association of TGF-β1 expression and tissue fibrosis is presented.
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