ABSTRACT
PURPOSE: Germline succinate dehydrogenase (SDHx) mutation carriers, especially SDHB, are at increased risk for malignancy and require life-long surveillance. Current guidelines recommend periodic whole-body MRI imaging. We assessed the incremental value of 68Ga-DOTA-octreotate (GaTate) positron emission tomography (PET)/CT compared with conventional imaging in such patients. METHODS: SDHx mutation carriers who had GaTate PET/CT were retrospectively reviewed. Detection of lesions were compared with MRI or CT on a per-patient and per-lesion basis. Proof of lesions were based on histopathology or clinical/imaging follow-up. RESULTS: Twenty consecutive patients (median age, 46 years; 10 males) were reviewed. Fourteen patients had SDHB, four, SDHD, one SDHC, and one SDHA mutation. Fifteen had prior surgery and/or radiotherapy. Indications for PET/CT were as follows: 7 patients for surveillance for previously treated disease, 9 residual disease, 2 asymptomatic mutation carriers, and 2 for elevated catecholamines. Median time between modalities was 1.5 months.GaTate PET/CT had higher sensitivity and specificity than conventional imaging. On a per-patient basis: PET/CT sensitivity 100%, specificity 100%; MRI/CT 85% and 50%. Per-lesion basis: PET/CT sensitivity 100%, specificity 75%; MRI/CT 80% and 25%. PET/CT correctly identified additional small nodal and osseous lesions. MRI/CT had more false-positive findings. Change of management resulted in 40% (8/20 patients): 3 received localized treatment instead of observation, 1 changed to observation given extra disease detected, 4 with metastases had radionuclide therapy. CONCLUSIONS: GaTate PET/CT provided incremental diagnostic information with consequent management impact in SDHx-pheochromocytoma and paraganglioma. Incorporating this modality as part of a surveillance program seems prudent. Further research is needed to define the optimal surveillance strategy including use of MRI.
Subject(s)
Adrenal Gland Neoplasms/diagnostic imaging , Organometallic Compounds , Paraganglioma/diagnostic imaging , Pheochromocytoma/diagnostic imaging , Positron Emission Tomography Computed Tomography/methods , Radiopharmaceuticals , Adolescent , Adult , Aged , Catecholamines/metabolism , False Positive Reactions , Female , Follow-Up Studies , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Multimodal Imaging , Mutation , Neoplasm Metastasis/diagnostic imaging , Paraganglioma/radiotherapy , Paraganglioma/surgery , Pheochromocytoma/radiotherapy , Pheochromocytoma/surgery , Retrospective Studies , Sensitivity and Specificity , Treatment Outcome , Young AdultABSTRACT
Carriers of succinate dehydrogenase (SDHx) mutations are at risk of developing phaeochromocytomas, catecholamine secreting extra-adrenal paragangliomas and non-secretory head and neck paragangliomas and require lifelong surveillance. There is no current consensus on the optimal surveillance strategy. This study describes the outcomes of a cohort of 50 SDHx mutation carriers followed at a tertiary Australian hospital using a surveillance protocol involving annual clinical review with plasma/urine metanephrines and biennial magnetic resonance imaging from skull base to pelvis.
Subject(s)
Germ-Line Mutation , Paraganglioma/genetics , Pheochromocytoma/genetics , Succinate Dehydrogenase/genetics , Abdominal Neoplasms/genetics , Adrenal Gland Neoplasms/genetics , Adult , Australia , Cohort Studies , Female , Head and Neck Neoplasms/genetics , Heterozygote , Humans , Male , Middle AgedABSTRACT
Breast magnetic resonance imaging (MRI) screening of women under 50 years old at high familial risk of breast cancer was given interim funding by Medicare in 2009 on the basis that a review would be undertaken. An updated literature review has been undertaken by the Medical Services Advisory Committee but there has been no assessment of the quality of the screening or other screening outcomes. This review examines the evidence basis of breast MRI screening and how this fits within an Australian context with the purpose of informing future modifications to the provision of Medicare-funded breast MRI screening in Australia. Issues discussed will include selection of high-risk women, the options for MRI screening frequency and measuring the outcomes of screening.
ABSTRACT
Risk-reducing bilateral salpingo-oophorectomy is a proven strategy to reduce the risk of serous ovarian cancer associated with germline BRCA mutations. It is most effective when performed before natural menopause, but it will render a woman prematurely menopausal. The tubal hypothesis of serous ovarian cancer brings with it the possibility of the alternative surgical approach in younger women comprising of risk-reducing bilateral salpingectomy while conserving their ovaries until nearer the age of natural menopause, when a delayed bilateral oophorectomy can be performed. This article will review the evidence behind the tubal hypothesis of serous ovarian cancer and explore the opportunities for translating this into clinical cancer prevention practice.