The incidence of esthesioneuroblastoma in children under 15 years of age is 0.1 per 100.000 children. Distinctive histological features of this tumor are diffuse accumulation of neuron-specific enolase, synaptophysin, chromogranin, and variable expression of cytokeratins. Diagnosis of the tumor includes endoscopic examination of the nasal cavity and nasopharynx, magnetic resonance imaging (MRI) and computed tomography (CT) of the skull base, paranasal sinuses with intravenous contrast. PET-CT is advisable to use for the detection of regional and distant metastases, as well as for suspected relapse. In patients of adult age, a negative effect on the outcome of the disease was detected, the detection of metastases in the lymph nodes of the neck, the presence of tumor cells at the edges of tumor resection and a high degree of malignancy of the tumor according to the Hyams system. Therapeutic approaches depend on the stage of esthesioneuroblastoma by Kadish. In the A-stage, surgical treatment is advisable. In the presence of tumor cells at the edges of the resection or residual tumor, radiation therapy is performed. In case of B-stage, surgical treatment is combined with the mandatory irradiation of the primary tumor area. In patients with the C-stage, neoadjuvant chemotherapy or radiation is performed, followed by a surgical treatment, adjuvant chemotherapy and/or radiation therapy. Patients with D-stage chemoradiation therapy is indicated. There is no consensus on an effective drug regimen. Overall 5-year survival varies significantly depending on the design of the study — 55% to 98%. Further study of the features of the clinical picture, morphological and molecular features and the course of the disease will help to improve our understanding of the nature of the tumor.
Multiple mutations in RET proto-oncogene are not common findings in patients with multiple endocrine neoplasia type 2A syndrome (MEN2A). Screening for RET mutation in MEN2A family members is usually limited by the known affected exon. However the second unrevealed mutation in RET proto-oncogene can coexist and modify the phenotype of MEN2 patients, including age of onset of medullary thyroid carcinoma, penetrance of pheochromocytoma etc. We here describe a family with MEN 2A syndrome with combination of three different germ-line RET mutations in its members (RET codon C634R, C634R+I852M, I852M+Y791F, Y791F). The earliest onset of medullary thyroid carcinoma was in a patient harboring the C634R+I852M double mutation at age 24 years. A 49-y.o.patient with C634R mutation has persistent medullary thyroid carcinoma after thyroidectomy at 35 years old. A carrier of Y791F mutation had no clinical evidence of disease at age of 28 years. In a child with compound I852M+Y791F mutation preventive thyroidectomy revealed C-cell hyperplasia at age of 4 years. The clinical significance of double RET mutation in the described family is not clear. Literature data of multiple germ-line RET mutations in patients with multiple endocrine neoplasia type 2A syndrome are presented.
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