Either event can drive the malignant growth of cells but in most cases the chimeric proteins tyrosine kinase activity appears responsible for doing so. Based on a limited number of genetic studies (a total of 65 patients), the ETY6-NTRK3 fusion gene appears to occur in most cases of the cellular and some cases of the mixed but no cases of the classical types of congenital mesolastic nephroma. However, a more recent study of 19 patients detected the fused gene in all 8 cases of cellular, 5 of 6 cases of mixed, and 0 of 5 cases of classic mesoblastic nephroma. This suggests that expression of this fused gene may be more common in cellar and mixed mesoblastic nephroma than previously appreciated.Trisomy, i.e. pathological presence of an extra chromosome, also occurs in these neoplasms. Trisomy of chromosome 11 (e.g. trisomy 11) appears to be the most commonly found trisomy in this disease, being detected in 7 of 13 genetically studied cases. Individual case reports have also found trisomy 8 (9 cases), 17 (4 cases), 20 (4 cases), 7 (3 cases), 10 (3 cases), 18 (2 cases), 2 (2 cases), and 9 (2 cases) associated with the disease. The contribution of these trisomies to the development of mesoblastic nephroma is unclear. Diagnosis
Diagnosis of mesoblastic nephroma and its particular type (i.e. classic, mixed, or cellular) is made by histological examination of tissues obtained at surgery.
Metamorphopsia is a type of distorted vision in which a grid of straight lines appears wavy and parts of the grid may appear blank. People can first notice they suffer with the condition when looking at mini-blinds in their home. For example, straight lines might be wavy or bendy. Things may appear closer or further than they are. Initially characterized in the 1800s, metamorphopsia was described as one of the primary and most notable indications of myopic and senile maculopathies. Metamorphopsia can present itself as unbalanced vision, resulting from small unintentional movements of the eye as it tries to stabilize the field of vision. Metamorphopsia can also lead to the misrepresentation of an object’s size or shape.It is mainly associated with macular degeneration, particularly age-related macular degeneration with choroidal neovascularization. Other conditions that can present with complaints of metamorphopsia include: pathological myopia, presumed ocular histoplasmosis syndrome, choroidal rupture and multifocal choroiditis. Pathology
The mechanisms that result in the development of metamorphopsia involve structural changes in the retina of the eye (retinal mechanism) as well as processing changes in the cerebral cortex of the brain (cortical mechanism). The retinal mechanism involves the displacement of retinal layers which results in the mislocation of light on the retina. The cortical mechanism, which was discovered after the retinal mechanism, is affected by perceptual “filling-in” and visual crowding effects. The cortical mechanism was found to work in combination with the retinal mechanism to contribute to metamorphopsia in long-standing maculopathy or after the treatment of macular disorders.