Hereditary breast cancer: screening and risk reducing surgery.

BACKGROUND: The screening modalities for women at high risk for breast cancer has received an increasing role during the last years. The aim of this study was to evaluate the performance of our screening program comparing the diagnostic sensitivity of clinical breast examination, mammography, ultrasonography (US) and magnetic resonance imaging (MRI). METHODS: Clinical Breast examination, mammography, US and MRI for each patient with BRCA1 and BRCA2 mutation who underwent breast surgery in our Institution from October 2008 to April 2016 were retrospectively evaluated. The diagnostic accuracy for MRI and for the other surveillance tests in identifying early breast cancer were assessed. RESULTS: Twenty-six female patients with genetic mutation underwent breast surgery. Twenty-two out of 26 (85%) developed cancer during the dedicated screening protocol whereas 4 women who underwent surgery did not have cancer. Imaging was able to detect cancer in all 22 patients (per patient sensibility of 100%), identifying all 35 neoplastic lesions (per lesion sensibility of 100%). The combination of Clinical Breast Examination, US and mammography aided the cancer diagnosis in 14 (64%) of patients with a sensitivity of 64% and specificity of 100%. MRI identified all the cancers, with sensibility and specificity of 100%. Moreover, in 8 (36%) of the 22 patients who developed breast cancers, the cancers were detected only by MRI, revealing a significant superiority respect to the other surveillance modalities (P<0.05). CONCLUSIONS: MRI demonstrated to be the best imaging modality in detection of breast cancer even for lesion <1 cm. Prophylactic mastectomy is the most effective risk reduction strategy in women at high risk, contributing to the reduction of anxiety related to the condition of a carrier.

Utility of stress perfusion-cardiac magnetic resonance in follow-up of patients undergoing percutaneous coronary interventions of the left main coronary artery.

To assess the accuracy of cardiac magnetic resonance (CMR) for the diagnosis of angiographic stenosis after percutaneous coronary intervention (PCI) of left main coronary artery (LMCA). Patients undergone in the last year PCI of unprotected LMCA and scheduled for conventional X-ray coronary angiography (CXA) were evaluated with stress perfusion CMR within 2 weeks before CXA. Main contraindications to CMR were exclusion criteria. Stress perfusion CMR was performed to follow a bolus of contrast Gadobutrol after 3 min of adenosine infusion. Between the 50 patients enrolled, only 1 did not finish the CMR protocol and 49 patients with median age 71 (65-75) years (38 male, 11 female) were analyzed. Between 784 coronary angiographic segments evaluated we found 75 stenosis or occlusions (prevalence 9.5%), but only 13 stenosis or occlusions in proximal segments (prevalence 6.6%). Patients with coronary stenosis (n = 12, 24%) showed a significantly (p = 0.002) higher prevalence of diabetes (7 of 12, 58%). At CMR examination, late gadolinium enhancement was present in 25 (51%), reversible perfusion defects in 12 (24%), and fixed perfusion defects in 6 subjects (12%). The only patient with LMCA restenosis resulted positive at perfusion CMR. The accuracy of stress perfusion CMR in diagnosis of coronary stenosis was higher when the analysis was performed only in proximal coronary arteries (95%, CI 86-99) compared to overall vessels (84%, CI 70-92). Stress perfusion CMR could strongly reduce the need for elective CXA in follow up of LMCA PCI and should be validated in further multicenter prospective studies.

Two uncommon cases of partial anomalous pulmonary vein connection.

Pulmonary venous developmental anomalies encompass a wide spectrum of congenital diseases, including partial anomalous pulmonary venous connection. We present two cases of uncommon partial anomalous pulmonary venous connection depicted well by magnetic resonance (MR) and computed tomography (CT) which could play an important role as noninvasive imaging techniques, providing high-quality and wide field of view imaging.

Pulmonary veno-occlusive disease: the role of CT.

OBJECTIVE: The authors sought to evaluate the diagnostic accuracy of high-resolution computed tomography (HRCT) in the detection of pulmonary veno-occlusive disease (PVOD) in patients with pre-capillary pulmonary arterial hypertension (PAH) of unknown aetiology, and to identify the role of CT in diagnosis and therapy. MATERIALS AND METHODS: The CT scans of 96 patients were retrospectively reviewed and assessed for specific HRCT findings: ground-glass opacities, septal lines and mediastinal lymph nodal enlargement (short diameter ≥1 cm). According to the HRCT findings, patients were divided into PVOD-suspicious and not PVOD-suspicious. Subsequently, a clinical-instrumental evaluation was performed, and the response to therapy and histopathological reports were evaluated. RESULTS: Radiological evaluation based on HRCT findings revealed 29 patients as PVOD-suspicious and 67 as not PVOD-suspicious. The final diagnosis was PVOD in 22 patients and idiopathic PAH in 74 patients. The CT scan showed 95.5 % sensitivity, 89% specificity, 72.5% positive predictive value, and 98.5% negative predictive value, with a diagnostic accuracy of 90.5% in identifying patients with PVOD. CONCLUSIONS: Chest CT can be considered a screening test in the assessment of patients with PAH of unknown aetiology, and the radiologist can help the clinician to identify patients with CT findings that make PVOD highly probable.

Pulmonary artery intimal sarcoma. Problems in the differential diagnosis.

PURPOSE: Pulmonary artery sarcomas (PAS) are rare malignant tumours that originate from the intimal layer of the pulmonary artery, occur in middle age and have a poor prognosis. In planning appropriate treatment, malignant disease should be suspected whenever there are specific clinical and radiological manifestations, in order to establish the differential diagnosis with acute pulmonary embolism or chronic thromboembolic pulmonary hypertension, with which this malignancy is most commonly confused. MATERIALS AND METHODS: Between 2008 and 2012, we managed four adult patients with a nonspecific clinical presentation who, at the conclusion of the diagnostic process, were found to be affected by PAS. Because of the initial suspicion of pulmonary embolism, all patients underwent chest radiograph, lung perfusion scintigraphy, trans-oesophageal echocardiography, and computed tomography (CT) angiography of the chest. Then, because of the peculiar CT findings and lack of response to anticoagulation therapy, a clinical suspicion of PAS was considered and all patients underwent positron-emission tomography (PET)-CT, and one patient also magnetic resonance imaging (MRI) of the chest. Subsequently, all patients underwent thromboendoarterectomy with histological investigation of the surgical specimen, which confirmed the clinical and radiological suspicion of PAS. RESULTS: CT is the technique that enabled the first step in the differential diagnosis between PAS and pulmonary embolism. The CT characteristics suggestive of PAS included the particular filling defect occupying the entire lumen of the pulmonary trunk with increase in diameter of the involved vessel and patchy and delayed contrast enhancement at CT angiography, more evident in the venous phase. PET-CT was used to differentiate between PAS and pulmonary embolism on the basis of the intensity of increased radiopharmaceutical uptake. MRI was used in one case of equivocal results on PET-CT, to improve tissue characterisation of the lesions and differentiation between the thrombotic and neoplastic components. CONCLUSIONS: The radiologist is usually the first to raise a suspicion of PAS in patients with severe dyspnoea and filling defect in the pulmonary artery, unresponsive to anticoagulation therapy. Combining CT and PET-CT proved to be extremely useful in assessing patients with suspected PAS. Early diagnosis with the help of integrated imaging remains today the main direction to pursue in order to obtain improvements in prognosis.

Evolution of the subsolid pulmonary nodule: a retrospective study in patients with different neoplastic diseases in a nonscreening clinical context.

PURPOSE: The aims of this study were to evaluate the high-resolution computed tomography (HRCT) features of subsolid pulmonary nodules (SSN) detected in cancer patients to differentiate between benign and malignant lesions, to assess their evolution during the follow-up, and to determine which neoplastic diseases are most frequently associated with the growth in size and/or density of SSN. MATERIALS AND METHODS: Ninety-seven patients with a total of 146 subsolid nodules [140 pure ground-glass opacities (pGGOs) and six mixed ground-glass opacities (mGGOs)] were retrospectively recruited. Two chest radiologists independently reviewed the HRCT features of the nodules (location, shape, size, density) and the patients' clinical characteristics (sex, age, smoking and cancer history). Mean duration of follow-up was more than 2 years. RESULTS: During follow-up, 58% of SSN remained stable, 10% disappeared. An increase in size and/or density was seen in 32% of SSN, and in particular in partly solid (mGGOs), large (≥10 mm) and irregular nodules. The majority of small-size (<5 mm) rounded SSN remained stable. SSN growth was more frequent in patients with advanced age and a history of smoking, and occurred even after a long period of stability (39% of pGGOs "changed" over 3 years). The neoplastic diseases most frequently associated with SSN growth were cancers of lung (34%), breast (15%), colon (15%) and bladder (10%). CONCLUSIONS: The observation of a sample of cancer patients has shown that SSN may frequently grow in size and/or density in these patients, especially if associated powith cancers of lung, breast, colon and bladder. As the majority of SSN showed a very slow development time, a follow-up period longer than 3 years is warranted even in cancer patients.

Acute type B aortic dissection: current management strategies.

PURPOSE OF REVIEW: Endovascular techniques are increasingly employed to treat patients with acute and chronic diseases of the thoracic aorta. This review focuses on current indication and results of thoracic endovascular stent-graft repair in patients with acute type B aortic dissection. RECENT FINDINGS: In patients with type B acute dissections, endovascular treatment should be considered in the presence of complications such as impending rupture, malperfusion, aneurysmal expansion, and uncontrolled pain or blood pressure. No data exist showing improved outcomes after prophylactic endovascular repair of uncomplicated acute dissections. Thus, primary treatment of asymptomatic patients remains medical. SUMMARY: Endovascular stent-graft repair of complicated type B acute dissection is associated with favorable short-term and mid-term results. Longer-term follow-up is warranted to assess its durability and potential progression of the disease at the downstream aorta.

A complex coronary artery fistula with aberrant mediastinic and abdominal feeding arteries and pulmonary artery drainage.

Coronary artery fistulas are rare congenital malformations that can originate from anywhere in the coronary artery system and terminate in any of the cardiac chambers, great veins or pulmonary arteries. We illustrate the unique case of a multidetector computed tomography coronary angiography scan of a young man, showing a complex coronary fistula between the left anterior descending coronary artery and a branch of the left pulmonary artery (with drainage function) with adjunctive mediastinic and abdominal aberrant feeding arteries arising, respectively, from the left internal mammary artery and the celiac trunk.