Is nasal airflow disrupted after endoscopic skull base surgery? A short review.

Even the most delicate endonasal surgery for skull base lesion causes changes in the nasal cavity, some of them permanent. Morphological changes in the nasal cavity and their consequences (changes in nasal airflow) are often studied by advanced numerical analysis called computational fluid dynamics. This review summarizes current knowledge of endoscopic transsphenoidal skull base surgery effects on nasal airflow. Several studies have shown that endoscopic skull base surgery changes nasal anatomy to the extent that nasal airflow changes significantly postoperatively. Removing any intranasal structure increases the cross-sectional area of the respective nasal meatus, leading to increased nasal airflow in this area while airflow in the narrower periphery decreases. Middle turbinate resection increases airflow in the middle meatus and reduces airflow in the superior and inferior meatus. Small posterior septectomy does not cause a significant change in nasal airflow. Nasal septum deviation is an important factor in airflow changes. Current studies describe nasal changes after rather extensive procedures (e.g., middle turbinectomy, ethmoidectomy) that are unnecessary in routine pituitary adenoma surgery. No studies have compared changes using pre- and postoperative scans of the same patients after actual surgery.

Morbidity and mortality associated with thyroid surgery - retrospective analysis 19912010.

INTRODUCTION: The incidence of thyroid disorders has been rising worldwide. Unlike the incidence, mortality associated with malignant thyroid cancer shows only a modest increase. Between 1979 and 2009, mortality in Czech women increased from 1.21 to 1.31 and in Czech men from 0.54 to 0.74 cases per 100,000 individuals.  Methods: A retrospective statistical analysis was performed in patients undergoing thyroid surgery at the Department of Otorhinolaryngology and Head and Neck Surgery of the 1st Faculty of Medicine, Charles University and University Hospital Motol, and at the Department of Otorhinolaryngology of the Institute for Postgraduate Medical Education in Prague from 1991 to 2010 (twenty years). In this period, 11,005 procedures were done for thyroid disease. The study analysed the incidence, morbidity, mortality, surgical complications and lethality. RESULTS: The study group included surgeries in 1588 male and 9417 female patients. The male/female ratio was 1:5.93. Benign thyroid tumours - mean patient age is 54.7 years; recurrent nerve morbidity is 1.37% (calculated from exposed nerves). Hypocalcaemia incidence is low, 5.4% of permanent hypocalcaemia or hypoparathyroidism, respectively, based on decreased serum parathyroid hormone (PTH) levels. Temporary hypocalcaemia is much more frequent, occurring in almost 15% cases depending on age, season of the year, and nutritional status. Hypoparathyroidism was demonstrated based on laboratory serum PTH levels only in 0.3% patients. In total, 442 patients were operated for the mechanic syndrome (a large goitre). The mean thyroid volume was 493 ml±136 ml; however, the maximum volume was 980 ml and weight 1115 g. The incidence of recurrent nerve injury occurs in 4.5%, i.e. the morbidity is 2 times higher compared to surgeries for other diagnoses. The incidence of hypoparathyroidism is not higher compared to other surgeries. Revision surgeries were indicated more commonly in malignant thyroid diseases, particularly in papillary and follicular carcinomas. Cervical lymph nodes procedures comprise another large segment in tumour treatment. Our analysis supports selective neck dissections while preserving non-lymphatic structures. As a rule, mortality associated with thyroid surgery is divided as mortality in the perioperative period (within 24 hours after the procedure) and early postoperative mortality (within 120 hours after the procedure). Surgery-related mortality was never classified as perioperative or within 24 hours after the procedure. Despite that, we believe that perioperative mortality within 120 hours after the procedure, which occurred in 7 cases, is very important. Mortality of the group was 0.007%. CONCLUSIONS: Each surgery procedure is associated with complications, morbidity and mortality. Experience of endocrine surgeons of all disciplines leads to a very low incidence of recurrent nerve and parathyroid gland injuries while at the same time achieving sufficient radicality. This, in cooperation with other medical fields such as endocrinologists, nuclear medicine specialists and oncologists, supports a safe and effective management of all thyroid disorders, including a good prognosis of patients with most types of cancer. Key word: thyroid surgery - complications recurrent nerve - hypoparathyroidism lethality.

Towards dissecting molecular routes of intercellular communication in the tumour microenvironment: phenotypic plasticity of stem cell-associated markers in co-culture (carcinoma cell/fibroblast) systems.

Increasing evidence attributes tumour fates to a small population of cells (cancer stem cells) capable of surviving therapeutic interventions. Investigation of their characteristics, especially in cross-talk with other cell types of the tumour microenvironment, can pave the way to innovative therapeutic concepts. The central issue of this study was to evaluate the impact of stroma on tumour cells with stem cell-like features in a squamous cell carcinoma model (FaDu). Six different types of experimental conditions were tested using distinct compositions of the culture system, and both morphologic and molecular features of the tumour cells were analysed. In detail, FaDu cells alone were used as a control, compared to tumour cells from co-culture, with squamous cell cancer-derived stromal fibroblasts or normal skin human fibroblasts, both in the direct and indirect (insert) systems, adding analysis of side population cells of FaDu culture. Measurements were taken on days 2, 7 and 9 of culture and immediately after preparation in the case of the side population. A panel of antibodies against keratins 8, 10, 19, stem cell markers CD29, CD44, CD133, as well as biotinylated adhesion/growth-regulatory galectin 1 served as a toolbox for phenotypic characterization. Co-culture with fibroblasts prepared from tumour stroma and with dermal fibroblasts affected marker presentation, maintaining an undifferentiated stage phenotypically related to stem cells. Side-population cells showed close relationship to cancer stem cells in these characteristics. In conclusion, normal and tumour stromal fibroblasts are capable of shifting the marker expression profile of FaDu cells to a stem cell-like phenotypic pattern in co-culture.

Revision operations after previous stapes surgery for persisting hearing loss.

OBJECTIVES: The aim of the study was to find out the reasons of the recurrent or persisting hearing loss after previous stapes surgery indicated for otosclerosis. BACKGROUND: Revision stapes surgery is a relatively safe surgical method. Recurrent or persisting conductive hearing loss is commonly caused by prosthesis dislocation and adhesions in the oval window. Hearing loss is directly proportional to the number of previous operations. METHOD: Retrospective analysis of 48 patients after revision stapes surgery was done over a period of 4 years (2005-2008). Improvement of the hearing and the reasons of a previous surgery failure were studied. RESULTS: RESULTS were compared to the other studies. The main reason of the failed surgery was adhesions and dislocation of the prosthesis. The mean postoperative air-bone gap was 12.0 dB. A mean postoperative air-bone gap closure within 10 dB occurred in 24 cases (55.8 %), between 11-20 dB occurred in 11 cases (25.6 %) and above 20 dB in 8 cases (18.6 %). The original prosthesis was replaced with a new one in 41 (95.3 %) cases. In 2 cases (4.7 %), previous prostheses were left in place and fixed by a ionomer glass cement to the long process of incus. CONCLUSION: Revision stapes surgery is a relatively safe surgical procedure allowing to improve hearing. The number of previous stapes surgery deteriorates hearing (p < 0.05) (Tab. 4, Ref. 20).

[Current treatment strategies for papillary thyroid microcarcinoma]. / Aktuelle Behandlungskonzepte des papillären Schilddrüsenmikrokarzinoms.

The increase in the incidence of thyroid cancer is accompanied by a mortality rate that is stable or perhaps even slightly decreasing. This phenomenon is due to the increased frequency of papillary microcarcinomas (thyroid tumors with a diameter of less than 1 cm), which is presumably attributable to the improved diagnosis enabled by high resolution ultrasound and fine needle aspiration cytology. The American and European Thyroid Associations have recently published new guidelines for the diagnosis and therapy of differentiated thyroid tumors. These guidelines are aimed at minimizing the diagnostic and therapeutic procedures without reducing their effectiveness. This goal is particularly important for papillary thyroid microcarcinoma patients, who have an excellent prognosis and almost normal life expectancy. This article summarizes the history of thyroid surgery and introduces papillary thyroid microcarcinoma--an important topic in modern thyroid oncology. Current methods for diagnosis, treatment and follow-up care of this disease are discussed.

Early stages of trachea healing process: (immuno/lectin) histochemical monitoring of selected markers and adhesion/growth-regulatory endogenous lectins.

Tracheotomy may be associated with numerous acute and chronic complications including extensive formation of granulation tissue. The emerging functional versatility of the adhesion/growth-regulatory galectins prompted us to perform a histochemical study of wound healing using rat trachea as model. By using non-cross-reactive antibodies and the labelled tissue lectins we addressed the issue of the presence and regulation of galectin reactivity during trachea wound healing. Beside localization of high-molecular-weight keratin, wide-spectrum cytokeratin, keratins 10 and 14, α-smooth muscle actin, vimentin, fibronectin, and Sox-2, galectins -1, -2, and -3 and their reactivity profiles were measured in frozen sections of wounded and control trachea specimens 7, 14, and 28 days after trauma. A clear trend for decreased galectin-1 presence and increased reactivity for galectin-1 was revealed from day 7 to day 28. Sox-2-positive cells were present after seven days and found in the wound bed. Interestingly, several similarities were observed in comparison to skin wound healing including regulation of galectin-1 parameters.

Comparison of Helicobacter pylori genotypes obtained from the oropharynx and stomach of the same individuals - a pilot study.

Helicobacter pylori has been recently detected in the oral cavity and oropharynx. However, the role it plays in oral and oropharyngeal pathogenesis remains unclear. The virulence of H. pylori strains can be distinguished according to the virulence factors genes carried. Our research has been focused on realtime PCR analysis of cagA and vacA genes of H. pylori strains in tonsils and tonsillar squamous cell cancer and their comparison with H. pylori strains obtained from the gastric mucosa of the same patients. Urea breath test (UBT) test was used to detect a gastric H. pylori infection in 20 patients with previously proven H. pylori in the oropharynx. Genotyping of H. pylori in gastric biopsies was performed in patients with positive gastric infection. Out of 20 patients positive for oropharyngeal H. pylori, 8 were positive for concurrent gastric H. pylori infection. In 6 of them gastric biopsies were obtained. Comparison of oropharyngeal and stomach H. pylori genotypes showed important differences. Four of 6 patients had different H. pylori strains in the oropharynx and stomach. The differences were found in cagA gene as well as in vacA gene. The finding of oral presence of H. pylori without concurrent stomach infection was confirmed using UBT. The results show that more than one H. pylori strain can be present in oropharynx and stomach in the same patient. The oropharyngeal infection seems to be independent to the gastric infection.

Short-term health-related quality of life and symptom control with docetaxel, cisplatin, 5-fluorouracil and cisplatin (TPF), 5-fluorouracil (PF) for induction in unresectable locoregionally advanced head and neck cancer patients (EORTC 24971/TAX 323).

BACKGROUND: The EORTC 24971/TAX 323, a phase III study of 358 patients with unresectable locoregionally advanced squamous cell carcinoma of the head and neck, showed an improved progression-free and overall survival (OS) with less toxicity when docetaxel (T) was added to cisplatin and 5-fluorouracil (PF) for induction and given before radiotherapy (RT). The impact of the addition of docetaxel on patients' health-related quality of life (HRQOL) and symptoms was investigated. METHODS: HRQOL was assessed at baseline, at end of cycle 2, and 4, 6, and 9 months after completion of RT using the European Organisation for Research and Treatment of Cancer (EORTC) Quality of Life Questionnaire C30 (QLQ-C30) and the EORTC QLQ Head and Neck Cancer-Specific Module (EORTC QLQ-H&N35). The primary HRQOL scale was global HRQOL per protocol. RESULTS: Compliance to HRQOL assessments was 97% at baseline, but dropped to 54% by 6 months. Data were analysed up to 6 months. There was a trend towards improved global HRQOL during the treatment period. At 6 months after the end of RT, global HRQOL was higher in the TPF arm than in the PF arm, but the low compliance does not allow to draw definitive conclusions. Swallowing and coughing problems decreased more in the TPF arm than in the PF arm at the end of cycle 2, but to a limited extent. CONCLUSION: Induction chemotherapy with TPF before RT not only improves survival and reduces toxicity compared with PF but also seems to improve global HRQOL in a more sustainable manner.

BRAFV600E mutation in the pathogenesis of a large series of papillary thyroid carcinoma in Czech Republic.

BACKGROUND: Activating point mutation of the BRAF gene, the most common genetic alteration reported in papillary thyroid carcinomas (PTC), has been associated with poor prognostic characteristics. AIM: Our objective was to determine the frequency of BRAFV600E mutation in PTC tumor tissues from the period 1960-2007 and to correlate it with clinicopathological parameters. SUBJECTS AND METHODS: DNAs were extracted from 242 PTCs, 23 sporadic medullary carcinomas, one anaplastic carcinoma and 6 poorly differentiated carcinomas. The presence of BRAFV600E mutation was determined using single strand conformation polymorphism method and verified by direct sequencing. RESULTS: BRAFV600E mutation was detected in 81 of 242 PTCs (33.5%), in one of 6 poorly differentiated carcinomas (16.7%) and in anaplastic carcinoma. BRAFV600E mutation was much less frequent in the follicular variant compared to classical variant and mixed follicular- classical variant of PTCs (p=0.001). BRAFV600E mutation was significantly associated with presence of nodal metastasis (p=0.029), more advanced TNM stage (p=0.014) and recurrence of disease (p=0.008). The mutation correlated with a higher age at diagnosis (p=0.049) and with a greater tumor size (p=0.041). Multivariate analysis confirmed these findings. The prevalence of BRAFV600E mutation before 1986 was significantly lower than after it (p=0.008). CONCLUSIONS: Our data suggest that BRAFV600E mutation is associated with high-risk clinicopathological characteristics of PTC and worse prognosis of patients. The frequency of the mutation significantly varied during the observed period but rather because of the different age distribution of patients in particular periods than as a consequence of Chernobyl accident.

Helicobacter pylori in tonsillar and adenoid tissue and its possible role in oropharyngeal carcinogenesis.

Helicobacter pylori is a well-known gastric pathogen. It plays a major role in the pathogenesis of chronic gastritis, duodenal and gastric ulcers, adenocarcinoma and gastric lymphoma. HP infection is one of the most common bacterial infections worldwide. Recently, the oral cavity was proposed as an extragastric reservoir of HP infection. HP was detected by culture and PCR in both dental plaque and saliva. It is supposed that HP infection can cause the same immunological changes in the oropharyngeal mucosa as in gastric mucosa and can also contribute to the progression of oropharyngeal diseases. HP can induce production of different cytokines and regulatory molecules, which are suggested to play a role in carcinogenesis of the oropharynx. Only a few studies have explored the presence of HP in tonsillar and adenoid tissue, where MALT is present similar to the gastric mucosa. The results of these studies were inconsistent. The question of persistence of HP in tonsillar and adenoid tissue and its role in the pathogenesis of oropharyngeal diseases still remains unclear. In this review, recent findings about oral HP are considered. Possibilities of diagnostics of HP in oral specimens are discussed.

[Galectins in squamous cell carcinomas of the head and neck cancers]. / Galektiny v dlazdicových karcinomech hlavy a krku.

Cancers of head and neck represents about 5% of all tumors. 80 to 90% of these tumors are constituted of squamous cell carcinomas. Despite a rapid progress in diagnostics and therapy the overall 5-year survival of this type of cancer is among the lowest of the major cancer types. This unfavourable situation needs the extensive research to found new markers to better characterize biological behavior of tumors as a rational background for more sophisticated therapeutic modalities. Among the most promising markers are endogenous lectins called galectins and their ligands. Especially galectin-1, -3 and -7 play a key role in pathology of squamous cell carcinomas.

Early detection of cancer: ideas for a debate.

Even if the overall number of cancer is increasing, the mortality has started to decrease in the Western World. The role of early detection in this decrease is a matter of debate. To assess its impact on mortality it is important to distinguish between diagnosis of cancer in symptomatic patients, and early detection in asymptomatic individuals who may self-refer or who may be offered ad hoc or systematic screening. The policies for early detection and screening vary greatly between European countries, despite many similarities in their cancer burden, and this partly reflects the uncertainties surrounding asymptomatic testing for cancer. A Task Force of European expert, held in Azzate (VA), Italy, established to address these issues, acknowledged the need for more research in the field of individual risk assessment since general statistics are more and more perceived as inadequate to design personal early detection plans. The group also recognised that combinations of early detection and screening will enforce the effectiveness of new treatments in curbing mortality curves, although policies will vary with different cancers.

Complicated decisionmaking in indications for auditory brainstem implant (ABI) in a patient with neurofibromatosis 2.

A case of an accidental finding of neurofibromatosis 2 in a practically asymptomatic patient is described. Various therapeutic modalities, including restoration of hearing after vestibular schwannoma surgery with an auditory brainstem implant (ABI), are considered.

Magnetic resonance imaging of the rat brain after epileptic seizures--preliminary results.

The magnetic resonance imaging (MRI) of the rat brain after the epilepsy seizures has been performed. As a first step, the model of the kainic acid (KA) induced seizures has been conducted to examine the possibilities of magnetic resonance imaging system kept in disposition. Seven Wistar albino rats, weighing about 300 g, were used in this study. We administered six of them with intraperitoneal injection of 10 mg/kg of KA. The control animal received corresponding volume of the saline. Every animal was examined under systemic anaesthesia induced by an intraperitoneal injection of thiopental sodium approximately 15 minutes before scanning. Diffusion-weighted imaging (DWI) has been used to acquire the coronary scans of the rat brain. The progress of hyper intense signal at the cerebral cortex and amygdale has been observed. Marked asymmetry of the signal intensity between hemispheres has been discovered. Subsequently the experimental model of audiogenic epilepsy will be conducted.

[Sentinel lymph node biopsy in oral and oropharyngeal carcinomas]. / Biopsie sentinelové uzliny u pacientu s karcinomem ústní dutiny a orofaryngu.

BACKGROUND: The aim of our study was to assess feasibility and accuracy of sentinel lymph node biopsy in patients with head and neck squamous cell carcinoma with clinically N0 neck. METHODS AND RESULTS: The sentinel lymph node was localised preoperatively by lymphoscintigraphy and intraoperatively by hand-held gamma probe after peritumoral injection of a Tc99m-labeled colloidal human serum albumin. The histology of the sentinel lymph node was compared with the histology of the nodes of the elective neck dissection performed in all patients. 27 patients with oral and oropharyngeal carcinomas accessible to injection in local anaesthesia were enrolled into a prospective trial between July 1993 and December 2005. The sentinel lymph node was localised by preoperative lymphoscintigraphy in 26 of 27 patients. Sentinel lymph node was identified perioperatively by hand-held gamma probe in all 28 necks of 27 patients. Occult metastases were found in 4 sentinel lymph nodes in 4 cases. In one case (3.6 %) the result of sentinel lymph node biopsy was false negative. The sentinel lymph node biopsy correctly predicted the positivity and negativity of the neck in 27 of 28 cases (96.4 %). CONCLUSIONS: Sentinel lymph node biopsy in patients with oral and oropharyngeal carcinomas is feasible and seems to accurately predict the status of the regional lymph nodes.

[The Tear Osmolarity of PATIENTS with Lagophthalmos]. / Osmolarita slz u pacientu s lagoftalmem.

INTRODUCTION: Lagophthalmos can be characterized as the dysfunction of the eye aperture and in some cases even by the disruption of tear production. Dry eye syndrome can consequently develop. Instability of the tear film, hyperosmolarity and inflammatory reaction are considered as the key mechanisms of dry eye syndrome. In our report we monitored the tear osmolarity of patients with postsurgical unilateral lagophthalmos. Results were compared with tear osmolarity of the non-lagophthalmic eyes. METHODS: We examined 10 patients (6 women, 4 men) with postsurgical facial nerve palsy and lagophthalmos complicating management of either cerebellopontine (8 patients) or salivary gland tumors (2 patients). Only patients without severe corneal defects enrolled the study. The tear osmolarity was measured in lower tear meniscus by TearLab Osmolarity System device. The lagophthalmic eye was always examined first. The results are presented as mean plus/minus the standard deviation. The paired t-test was used for statistical data processing. The p-value 0,05 was considered as statistically significant. RESULTS: The mean tear osmolarity of the lagophthalmic eyes was 296 ± 15,0 mosmol/l (275-315 mosmol/l). In case of healthy eyes the mean osmolarity was 310 ± 12 mosmol/l (292-336 mosmol/l). The tear osmolarity in case of lagophthalmos was significantly lower than in the healthy eyes (p = 0,05). CONCLUSION: In contrary to the studies demonstrating higher tear osmolarity under the scenario of dry eye syndrome, we found lower tear osmolarity in the lagophthalmic eyes than in the healthy eyes. The possible reason could be the changes in tear dynamics of the lagophthalmic eye due to disturbance of eye lid function. Our results also stress the need of evaluation of the actual tear osmolarity in the view of complex clinical eye findings. The place of tear collection should also be considered.Key words: lagophthalmos, dry eye syndrom, tear osmolarity.

Epidermal growth factor receptor--its expression and copy numbers of EGFR gene in patients with head and neck squamous cell carcinomas.

Signaling pathways activated by epidermal growth factor receptor (EGFR) are pathogenetically involved in the development of head and neck squamous cell carcinomas (HNSCC). A monoclonal antibody against the EGFR protein blocking the receptor activity (cetuximab - Erbitux - C225) is now available for therapeutic applications. The mechanisms of EGFR protein overexpression are poorly understood. Regulatory pathways, EGFR gene structural changes or its amplification may be involved. The aim of the study was to evaluate expression of the EGFR protein in patients with HNSCC, to identify EGFR gene copy numbers, and to find out whether the protein overexpression is associated with the EGFR gene amplification. In the case of a pathogenetical link of the EGFR gene amplification and the protein overexpression it would be useful to employ both diagnostic approaches to identify patients eligible for cetuximab therapy. We investigated 33 patients with HNSCC. The expression of EGFR protein was evaluated by immunohistochemistry, copy numbers of EGFR gene and the numbers of chromosome 7 centromeric signals were investigated by fluorescence in situ hybridization on interphasic nuclei (I-FISH). Histological sections from formalin fixed and paraffin embedded tissues were used. We observed three types of EGFR protein expression (homogeneous 3+ membrane positivity in 13 patients; membrane positivity varying from 1+ to 3+ in 12 patients; a strong membrane positivity at the periphery of the tumor cell clusters in 5 patients). In two cases the results were difficult to interpret. In one case single tumor cells only were positive. Numerical changes of chromosome 7 were present in 23 patients. We found the EGFR gene amplification in seven patients. The tumor cells with amplification of the EGFR gene were generally infrequent and were localized in small clusters, or they were randomly dispersed between the tumor cell population without the gene amplification. We did not find any correlation between the EGFR gene amplification and the EGFR protein overexpression. Thus, amplification of the EGFR gene is not pathogenetically involved in the EGFR protein overexpression. From the diagnostic aspect a standardized immunohistochemical assessment of the EGFR protein expression appears sufficient for detection of the EGFR status. Criteria for cetuximab treatment in patients with HNSCC may differ from those already used for patients with colorectal carcinomas and should take different patterns of the EGFR protein overexpression into consideration.

Long-lasting changes in the density of nitrergic neurons following kainic acid administration and chronic hypoxia.

Using histochemical analysis (NADPH-diaphorase) we have investigated the influence of intraperitoneal administration of kainic acid (KA), hypoxia and combination of both these factors on neurons of the hippocampus and on the primary auditory cortex (PAC) in male rats of the Wistar strain. Kainic acid was administered to 18-day-old animals, which were exposed to long-lasting repeated hypoxia from the 2nd till the 17th day of age in a hypobaric chamber (for 8 hours a day). At the age of 1 year, the animals were transcardially perfused with 4 % paraformaldehyde under deep thiopental anesthesia. Cryostate sections were stained to identify NADPH-diaphorase positive neurons that were then quantified in CA1 and CA3 areas of the hippocampus, in the dentate gyrus and in the PAC. Both, hypoxia and KA lowered the number of NADPH-diaphorase positive neurons in the hilus, dorsal and ventral blades of the dentate gyrus, CA1 and CA3 areas of the hippocampus. On the contrary, KA given to the hypoxic animals increased the number of NADPH-diaphorase positive neurons in the dorsal blade of the dentate gyrus and PAC.

Detection of new diagnostic markers in pathology by focus on growth-regulatory endogenous lectins. The case study of galectin-7 in squamous epithelia.

Lectins represent one of pivotal regulators of the cell proliferation The potential of galectin-7 as a new prognostic marker was studied in normal and transformed squamous epithelia of both ectodermal (epidermis, cornea vs. trichoepithelioma, basal and squamous cell carcinoma) and endodermal (vocal fold epithelium vs. carcinoma) origin. Studies on the cultured cells were also performed. Expression of galectin-7 seems to be connected to the process of stratification, no matter of origin of epithelium. Its expression is significantly reduced in malignant cells, thus galectin-7 might be a differentiation marker of epithelial malignancies.

A 3-bp Deletion VK600-1E in the BRAF Gene Detected in a Young Woman with Papillary Thyroid Carcinoma.

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.