Neoplastic potential for malformations of the development of ecto- and mesodermal structures

Abstract

Introduction.Malformations of ecto- and mesodermal structures represent various forms of abnormality of intrauterine systemic and local morphogenesis, arising at different times of embryonic development due to environmental factors, genomic, chromosomal or gene mutations. Dysregulation of cellular functions due to mutations and accumulation of defective proteins initiates tumor transformation of tissues e.g. hereditary diseases of ectomesodermal origin phakomatosis (hamartomatosis).
 The aim of the studywas to determine organ specificity, clinical manifestations, morphological features and the degree of progression of tumors of the nervous system and internal organs in hereditary diseases of ectomesodermal origin.
 Materials and methods.103 patients with hereditary phakomatosis were examined. All of them underwent a comprehensive clinical imaging examination, including magnetic resonance imaging, echocardioscopy, ultrasound examination of the abdominal organs, kidneys, retroperitoneal space, and computed tomography of the abdominal cavity and lungs.
 Results.The reason for the treatment of patients was the occurrence of focal neurological symptoms, focal and/or generalized epileptic seizures. Clinical manifestations were determined by the form of the disease. The risk of the development and progression of various neoplasms is the highest in neurofibromatosis type III, tuberous sclerosis, neurocutaneous melanosis, multiple endocrine neoplasia, angiomatosis of HippelLindau, Louis-Bar . Favorable benign and stable course, low malignant potential are distinguishing characteristics of pigment-vascular phakomatoses type IV.
 Conclusion.Knowledge of the clinical manifestations of various malformations of the skin, blood vessels, and the nervous system associated with tumor growth in cells and tissues is practically significant. Early diagnosis and the use of modern technologies of conservative and surgical treatment allow achieving a predictable result, prevent the development of severe complications, and significantly improve the quality of life of patients with this pathology.

Neurofibromatoses: pathomorphological and clinical polymorphism, efficacy of targeted therapy

“…Нейрофиброматоз 1-го типа -моногенная болезнь с аутосомно-доминантным типом наследования, встречающаяся во всех странах мира со средней частотой в мире 1:3000 населения. Поскольку основным клиническим проявлением НФ1 являются множественные неоплазмы, данное заболевание относится к группе наследственных опухолевых синдромов [6,7].…”