ABSTRACT
Papillary thyroid cancer (PTC) derived from follicular cells is a frequent thyroid tumor. The incidence of this type of malignancy is still growing worldwide. Several major genetic causes are recognized to cause PTC-mutations in the BRAF and RAS genes or rearrangements with the RET proto-oncogene. The most common genetic change found in PTC is a V600E mutation in the BRAF gene presented in 36-69 % of all PTC cases. For routine purposes, several methods were developed to selectively detect only this mutation. However, these methods miss other mutations in the BRAF gene located elsewhere. We focused on the analysis of the exon 15 of the BRAF gene by next-generation sequencing. Here we report a three nucleotide deletion VK600-1E in one patient and present this finding in the context of 13 previously described PTC cases with this deletion. Our patient is the second youngest one among the reported cases. Clinical features of PTC patients with VK600-1E are summarized. For the future, it is important to evaluate genotype-phenotype characteristics of patients with rare BRAF mutations and to follow up them for years.
Subject(s)
Carcinoma/genetics , Proto-Oncogene Proteins B-raf/genetics , Thyroid Neoplasms/genetics , Adult , Carcinoma, Papillary , Czech Republic , Female , Humans , Proto-Oncogene Mas , Sequence Deletion , Thyroid Cancer, PapillaryABSTRACT
Subacute thyroiditis is an inflammatory disease of the thyroid gland, most probably preceded by viral infection. Common symptoms include fever, thyroid tenderness associated pain, and initial hyperthyroidism sometimes followed by a transient period of hypothyroidism with generally favourable outcomes as self-limited entity. It was known that it may be confused with pharyngitis; however search on Medline using key words (dental pain, subacute thyroiditis, and differential diagnosis) in combination recently produced no reports. Herein, we report a case of subacute thyroiditis associated pain, which was initially mistaken and treated as pain of dental origin after otorhinolaryngologic examination revealed no pathology. The aim of this communication is to remind that thyroiditis as part of differential diagnosis should be considered in patients with unexplained dental pain to avoid unnecessary diagnostic procedures, which increase expenses and may delay appropriate therapeutic measures.
Subject(s)
Thyroiditis, Subacute/diagnosis , Toothache/diagnosis , Adult , Diagnosis, Differential , Humans , MaleABSTRACT
The study provides an overview of current possibilities for use of nuclear medicine methods in endocrine diagnostics and therapy. Somatostatin receptor analogue is applied to the hypothalamus-hypophysis system, analogue medium to is used, in thyroid diagnostics, besides the determined tumour markers, tenchecium-labelled MIBI radioiodine 131 is used to determine and monitor carcinomas. Recently, rhTSH before starting thyroid carcinoma treatment is used. Neuroendocrinology tumours are suspected through 123I-MIBG; when scintigraphy is positive, therapeutic 131I-MIBG can be administrated. In diagnostics of the pituitary gland, two-step scintigraphy of MIBI is preferably used rather than subtraction methods. In patients with late or not significantly differenciated malignant tumours, positrone emission tomography is of benefit.
Subject(s)
Thyroid Diseases/diagnostic imaging , Humans , Radionuclide Imaging , RadiopharmaceuticalsABSTRACT
The combined hormonal contraception is the most efficient reversible variety of family planning. The modern low doses combined hormonal contraception have a high efficacy with minimal risks. Users are still in risks of cardiovascular complications. The combined hormone contraception also has positive noncontraceptive effects on menstrual disorders, hyperandrogenism, cysts of ovary, pelipathy etc. The benefits are higher than the risks only when respecting the basic rules of the combined hormonal contraception prescription.
