1.
Diagnostic correlation between RET proto-oncogene mutation, imaging techniques, biochemical markers and morphological examination in MEN2A syndrome: case report and literature review.
Sovrea, AS, Dronca, E, Galatâr, M, Radian, S, Vornicescu, C, Georgescu, C
Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie. 2014;(2):389-400
Abstract
Multiple endocrine neoplasia type 2 (MEN2) is a rare autosomal dominant monogenic disorder caused mostly by missense mutations in the RET (REarranged during Transfection) proto-oncogene on chromosome 10q11.2. MEN2A represents more than 50% of all MEN2 cases, having a regular pattern with medullary thyroid carcinoma (MTC) incidence of 90-100%, bilateral pheochromocytoma (PCC) incidence of 40-50% and primary hyperparathyroidism (HPT) incidence of 10-25%. Until recently, the diagnosis of MTC was most frequently based on fine-needle aspiration of thyroid nodules, after an ultrasound examination and endocrine evaluation of serum calcitonin levels. Nowadays, RET gene screening (starting with exons 10 and 11) is a mandatory test used for identification of both symptomatic and non-symptomatic MTC carriers or for exclusion of healthy individuals from subsequent periodical clinical/biochemical screening. In this context, and in the idea of PCC preceding MTC, the early detection of germline RET mutations are highly suggestive for hereditary disease. PCC diagnosis is established in classical manner by abdominal ultrasound imaging or computed tomography confirming the presence of adrenal gland masses, elevated plasma metanephrines and normetanephrines values and histopathological examination. Additional HPT diagnosis is acknowledged by serum ionized calcium and parathormone levels. Here we report a hereditary case of MEN2A in a two-generation Romanian family, along with data presenting the importance of correlative plurifactorial diagnostic scheme in this syndrome and a short literature review.
2.
Cardiac risk factors: noninvasive testing to detect coronary heart disease.
Anthony, D, George, P, Eaton, CB
FP essentials. 2014;:21-7
Abstract
Patients with acute chest pain should be assessed first for the likelihood of acute coronary syndrome using the Thrombolysis in Myocardial Infarction score or the Agency for Health Care Policy and Research criteria. If assessment indicates high risk, the patient should be admitted to the hospital. Low- and intermediate-risk patients whose chest pain has ceased and who have normal or unchanged electrocardiograms and troponin levels can be monitored for 6 to 8 hours. If the patient then develops recurrent chest pain, electrocardiographic changes, or increasing biomarker levels, hospital admission is warranted. If not, further testing is indicated to determine if coronary heart disease is present. Testing can include exercise treadmill tests, nuclear imaging, or stress echocardiography. Coronary computed tomographic angiography and magnetic resonance angiography currently are not standard tools for this testing. Testing also is sometimes obtained for asymptomatic outpatients with intermediate risk of coronary heart disease, with the goal of reclassifying them in low- or high-risk categories. Carotid intima-media thickness, ankle-brachial index, coronary artery calcium scores, stress tests, coronary computed tomographic angiography, and magnetic resonance angiography have been suggested for this purpose, but they only result in reclassification of small percentages of patients and are not recommended routinely.
3.
Imaging features of medulloepithelioma: report of four cases and review of the literature.
Sansgiri, RK, Wilson, M, McCarville, MB, Helton, KJ
Pediatric radiology. 2013;(10):1344-56
Abstract
BACKGROUND Intraocular medulloepithelioma is a childhood tumor arising from the nonpigmented primitive ciliary neuroepithelium. Although rarer than retinoblastoma, it remains the second most common primary intraocular neoplasm in children. The rarity of intraocular medulloepithelioma creates the challenge in establishing a clinical diagnosis, and radiologically the tumor is often confused with other intraocular masses. OBJECTIVE To describe the clinical, imaging and pathological features of intraocular medulloepithelioma with emphasis on the role of imaging to enable its differentiation from more common intraocular pathology. MATERIALS AND METHODS We retrospectively analyzed the clinical, histopathological and imaging data of four children with intraocular medulloepithelioma. RESULTS All four children had medulloepithelioma arising from the ciliary body. The children were imaged with US (n = 3), MRI (n = 4), whole-body (99m)Tc-MDP scintigraphy (n = 2) and CT (n = 1). All four children had enucleation of the involved eye. One tumor was a malignant teratoid variant, two tumors were malignant nonteratoid variants and one was a nonteratoid variant of uncertain malignant potential. None of the tumors had extraocular extension on histopathology or imaging. Two children had associated retinal detachment on US and MRI examinations. All tumors were iso/hyperintense to vitreous on T1-weighted and hypointense on T2-weighted MRI and showed marked contrast enhancement of the solid components. No calcifications were identified on US or CT examinations. CONCLUSION Our findings are consistent with previously reported cases of medulloepithelioma. This series emphasizes the roles of various imaging modalities, with pathological correlation, in differentiating the tumor from other ciliary body masses, in detecting tumor extension and in identifying associated ocular complications. In this series we also describe the results of postsurgical follow-up for tumor recurrence.
4.
Anterior-segment retinoblastoma mimicking pseudoinflammatory angle-closure glaucoma: review of the literature and the important role of imaging.
Saket, RR, Mafee, MF
AJNR. American journal of neuroradiology. 2009;(8):1607-9
Abstract
A 7-year-old boy presented with angle-closure glaucoma, initially presumed to be idiopathic. A ciliary body mass was later detected on MR imaging, suggestive of medulloepithelioma but pathologically proved to be diffuse infiltrating retinoblastoma. We discuss the patient management and review the literature, with emphasis on the role of CT and MR imaging in evaluating pediatric angle-closure glaucoma and in influencing the management of patients with retinoblastoma and medulloepithelioma.