Gorlin-Goltz syndrome with familial manifestation.

AIMS: The detection of odontogenic keratocysts (OKC) in the oral cavity is one of the main criteria for the clinical manifestation of Gorlin-Goltz syndrome (Nevoid Basal Cell Carcinoma Syndrome - NBCCS). From a clinical point of view, we distinguish between "syndromic" and "sporadic" OKC. Syndromic cysts, often multifocal, may be an accidental finding on X-ray examination. They can manifest gradually depending on the development of permanent dentition. Sporadic cysts are rather solitary lesions with clinical manifestation in adulthood. METHODS: Mutations in the PTCH1 gene are thought to be the cause of the clinical manifestation of NBCCS. These abnormalities can be transmitted from one generation to another and lead to a familial occurrence of the disease. In 35-50% of cases, these are a newly arising mutations. It is necessary to take into account the typical manifestations which in the next generation begin at a younger age and the disease usually has a more serious course. RESULTS: We found a familial manifestation of NBCCS in two pairs of patients (mother and daughter and two siblings). Odontogenic keratocysts and cutaneous basal cell carcinomas were diagnosed and genetic testing revealed mutations in the PTCH 1 gene in all four individuals. CONCLUSIONS: With regard to the possibility of familial occurrence of NBCCS, it is necessary to pay increased attention to family history and, if necessary, to ensure clinical and genetic examination of parents and other family members. Patients of childbearing potential with evidence of NBCCS should be informed of the increased likelihood of the disease in the offspring.

Reconstructive procedures in maxillofacial oncosurgery.

OBJECTIVE: Oropharyngeal cancers are a biologically heterogenous group of tumors with diverse risk factors including tobacco, alcohol, HPV, inherited disorders, the acquired immunodeficiency of Karposi's Sarcoma and non Hodgkin's lymphoma. In the Czech Republic, oropharyngeal cancers represent around 2% of all cancers. The treatment of these tumors is long and complex. Reconstructive procedures in maxillofacial oncosurgery demand good interdisciplinary collaboration and great professional preparedness of the surgical and nursing team. Patient age and stage of disease, including the presence of metastases are of key importance. A prerequisite for the success of surgical treatment is removal of the tumor with a sufficient safety margin. Reconstructive procedures then follow. AIM: To highlight the importance of radical tumor resection and describe reconstruction of the defect in a group of our patients. METHODS AND RESULTS: From 2008 to 2013, 23 patients with oropharyngeal carcinoma underwent radical surgical removal of tumor, followed by reconstruction of postoperative defects using distant and free flaps. The histopathology showed predominantly squamous cell carcinomas and one of Merkel cell carcinoma. 16 patients had malignant disease detected in III-IV. In only 7 cases was treatment initiated in the first and second stages of the disease. In these patients, the tumors were removed with a safety margin of healthy tissue and in none, did the basic cancer recur . The postoperative course in terms of flap engraftment and overall condition of the patient was uneventful. All of these patients still enjoy a good life quality with a current mean survival in range 5 - 76 months. Radical surgical removal of a malignant tumor in the early stages of the disease is associated with fewer postoperative complications and longer survival. CONCLUSION: To avoid the risk of local and/or systemic postoperative complications, appropriate patient selection is important. Overall, the traditional, classic reconstructive procedures with the use of prostheses, in many cases is still the best option in our experience.

Odontogenic keratocysts/keratocystic odontogenic tumours: biological characteristics, clinical manifestation and treatment.

BACKGROUND: Odontogenic keratocysts (OKCs) now reclassified as Keratocystic odontogenic tumours (KCOTs) are a clinical entity with a characteristic microscopic picture, kinetic growth and biological behaviour. They arise from the proliferation of the epithelial dental lamina in both maxilla and mandible and occur in patients of all ages. 70-80% of keratocysts are found in the mandible commonly in the angle between the jaw and mandibular branch and maxillary region of the third molar. The cysts are long latent, often symptomless and may attain remarkable dimensions without significant deformation of the jaw bones. They are often found during routine dental X-ray examination. Compared to other types of jaw cyst, odontogenic cysts have a striking tendency to rapid growth and re-occurrence. AIMS: This review focuses on the biological characteristics, clinical behaviour and treatment of KCOTs. METHODS: The databases searched were the PubMed interface of MEDLINE and LILACS. RESULTS AND CONCLUSIONS: Ondontogenic keratinocysts are not currently a diagnostic problem. Orthopantomograms which are today ordinary tools of dental investigation enable diagnosis of clinically asymptomatic cystic lesions. The problem remains the optimal therapeutic approach to reduce the still high likelihood of postoperative recurrence. There is no complete consensus on the ideal operating procedure but cystectomy with delayed extirpation is favoured. An open question also remains the timeliness of screening for postoperative recurrences. Given that the first clinical manifestation of Nevoid Basal Cell Carcioma Syndome (NBCCS) may be lesions of this type, routine histopathological classification supplemented by analysis of immunophenotype should be done. Patients with proven sporadic and especially syndromic OKC should be long term screened. In patients with NBCC preventive X ray examination is recommended only once a year.

Merkel cell carcinoma. Case report.

BACKGROUND: Merkel cell carcinoma (MCC) is a rare aggressive skin tumour affecting mainly older and immuno suppressed individuals (see our review on MCC in this volume). AIM: This is a case report describing our first experience with Merkel cell carcinoma in an elderly woman on chemo therapy for lymphoma and it covers the diagnosis, treatment and outcome. METHODS: We did a radical excision of the soft tissue in the tumor area in conjunction with total paroditectomy and resection of the body of the zygomatic bone by radical block neck dissection. The skin defect was reconstructed myocutaneous free flap by a plastic surgeon. RESULTS AND CONCLUSION: At 12 months follow-up, the MCC had not recurred.

Merkel cell carcinoma. A review.

BACKGROUND: Merkel cell carcinoma (MCC) is a rare potentially fatal skin tumour affecting older mainly white people and younger immunosuppressed individuals. While uncommon, the incidence is increasing relative to melanoma and with twice the lethality. The benign appearance of the tumour usually on exposed skin parts, contrasting with its extensive microscopic invasion, can delay timely diagnosis. Recurrent MCC is currently attributed to the recently discovered Merkel cell polyomavirus This brief review of MCC covers the history, epidemiology,etiology,clinical and histological features, treatment and prognosis. METHODS: Literature search using PubMed and search words Merkel cell carcinoma (MCC), etiology, treatment for the years 1972 to 2010. RESULTS AND CONCLUSION: Merkel cell carcinoma is a rare malignancy with uncertain prognosis. Due to the uncommon occurrence and dearth of randomized studies, there is no agreement on optimal treatment. The tumor has only recently been included in the international classification of tumors (NCCN). The treatment approaches found to be best are radical surgery of primary tumor, drainage of lymph node extension and possibly adjuvant loco-regional radiotherapy. The basis of successful treatment however, remains prevention regular dermatological examination in immunosuppressed patients and early initiation of combination therapy, based on radical surgery supplemented by radiotherapy and palliative chemotherapy in the last resort.

Human papillomavirus in the etiology of head and neck carcinomas.

BACKGROUND: For more than 20 years, infection with the human papillomavirus (HPV) has been of a matter of interest not only to gynecologists but also to maxillofacial surgeons and othorhinolaryngologists. HPV is generally known to be involved in cervical cancer. Recently, there are many clinical studies pointed out the potentially dangerous connection between HPV infection and head and neck carcinomas (HNC). HPV infection was identified as a possible etiological factor in 15-30% of HNC. METHODS: Aim of this article is to summarize the recent knowledge about the HPV infection with regards to etiology of head and neck cancer. RESULTS: It has been proven that HPV infection is related to development of head and neck cancer and that the sexual behavior has played an important role in the viral transmission. HNC of viral etiology have been observed mostly in younger people; their curability is difficult and prognosis serious. CONCLUSION: Beside the well known correlation between developing of new head and neck cancer and bad habits (smoking, alcohol abuse, poor oral hygiene etc.) we should take into consideration the sexual promiscuity and alternative sexual practices. Vaccination against cervical cancer, recommended to young women, should be extended to their male partners to prevent the virus transmission and decrease the HNC incidence.

Salivary neutrophils level as an indicator of bone marrow engraftment.

AIM: The aim of this study was to investigate the neutrophils level in saliva as an adequate alternative to other methods for evaluating the neutrophil engraftment after autologous stem cell transplantation (ASCT) in hemato-oncology. METHOD: A total of 35 patients treated for non-Hodgkin's lymphoma or multiple myeloma were stomatologically examined before planned high-dose chemotherapy with ASCT. After removal of potential foci of odontogenic infection all the patients underwent transplantation and during the treatment they were monitored for the level of neutrophils in saliva as a possible early indicator of the neutrophil engraftment. Neutrophil levels in saliva were compared to the neutrophil level in blood and to the degree of oral mucositis (the nurses study). RESULTS: An increase of salivary neutrophils in the mouth rinse of > 25 x 10/\6/l was identified as an early sign of successful neutrophil engraftment that occurred 1 to 2 days before the rise of neutrophils in peripheral blood (> 0.5- x 10/\9/l). CONCLUSIONS: Follow-up of neutrophil levels in saliva might be an adequate alternative to other methods for evaluating the neutrophil engraftment after ASCT in hemato-oncology.

Saliva as a diagnostic medium.

BACKGROUND: This is a review of current knowledge on the use of saliva, gingival cervical fluid and mucosal transudate in the detection of some oral and systemic diseases as well as drugs. Oral fluid is a diagnostic medium that can be easily collected and with minimal invasion but it has been neglected in the past. Today, saliva is being used more often to diagnose: HIV virus, oro-facial and systemic tumors, cardiovascular disease and in detecting addictive substances. Neutropil levels in saliva may also indicate successful bone marrow transplant. Oral fluid is now systematically being researched and oral fluid analysis is being compared with the analysis of other diagnostic media such as blood and urine. A number of recent studies have focused on oncogenic marker detection and its monitoring in saliva. The latest clinical and laboratory findings on diagnostic markers of oropharyngeal carcinoma in oral fluid could be the beginning of their wider use as a diagnostic medium. Oral fluid can also be also used to diagnose other malignancies such as breast cancer which was one of the first malignant tumors to be detected using genetic protein biomarkers. Raised levels of CA15-3 and the epidermal growth factor (EGF) receptor have been found in patients with breast cancer and elevated levels of CA 125 and the glycoprotein complex in the saliva of ovarian cancer patients. CONCLUSION: Doubtless, the diagnostic value of saliva, aided by current technological development will increase rapidly in the near future.

Intra-arterial chemotherapy and its significance in the treatment of oropharyngeal carcinoma.

BACKGROUND: In complex therapeutic algorithms for cancer, regional intra-arterial chemotherapy is usually used as an adjuvant and placed in the beginning of treatment. Clinical experience however shows that the achieved remission of malignant tumour illness after non-adjuvant chemotherapy is only temporary and short-lived. The illness progresses relatively quickly if the patient receives no further treatment and most clinical studies have not found any significant increase in life expectancy in oncological patients treated with this method. The question remains to what extent the poor results are due to the treatment method and its position in the therapeutic algorithm, and to what extent they are due to imperfect knowledge of molecular tumour genetics or inappropriate choice of the neoadjuvant intra-arterial chemotherapy METHODS: We compared preliminary results of immunohistochemical examinations (detection and analysis of expression of proteins Ku 70, STAT 1,3,5 which take part in the regulation of cell cycle apoptosis and repair of damaged DNA, carried out before and after chemotherapy, suggest that depending on the effects of neoadjuvant intra-arterial chemotherapy and patient's survivance. RESULTS AND CONCLUSION: An overview of intra-arterial neoadjuvant chemotherapy of head and neck is presented. Knowledge of cell cycle processes, especially apoptosis and repair of damaged DNA, could significantly influence the choice of the therapeutic algorithm and therapeutical effect.

Immunohistochemical analysis of the biological potential of odontogenic keratocysts.

BACKGROUND: The aim of this study was to analyse the usefulness of detecting important apoptosis and proliferation markers in assessing the biological potential of odontogenic keratocysts (OKC) and thus selecting the optimal diagnostic algorithm for these lesions. METHODS: Indirect immunohistochemistry and relevant statistical methods were used for analysis of formalin-fixed and paraffin-embedded samples from 98 patients. RESULTS: Nevoid basal cell carcinoma syndrome (NBCCS) keratocysts were characterized by higher expression of Bcl-2, p27Kip1 and c-erbB-2 as well as by lower proliferative activity measured by Ki-67 in basal cell epithelium and by a lower inflammatory response in comparison with sporadic keratocysts. Dentigerous, radicular and non-specified odontogenic cysts differed from both NBCCS and sporadic keratocysts in a wide spectrum of apoptosis and/or cell cycle-related protein expressions, higher proliferation in the basal cell layer, and vice versa, lower proliferation in the suprabasal cell layer. CONCLUSIONS: The NBCCS keratocysts have a different immunophenotype from sporadic keratocysts and both types are distinguishable from dentigerous, radicular and non-specified odontogenic cysts. These findings confirm the separate biological potential of these lesions and the results of the immunohistochemical analysis have diagnostic and prognostic implications.

Bone defects of the facial skeleton - replacement with biomaterials.

The authors report on their experience with bone defect treatment following surgery of jaw-bone cysts. This is based on the use of cadaveric ground spongiosis saturated with tetracycline and metronidazol solution. The study shows the above mentioned material is very suitable for bone defect therapy, and cost effective. The results were verified by clinical and X-ray examination.

Haemangiomas of the orbit.

The authors describe their experience with systemic therapy of cavernous haemangiomas making use of interferon alpha. They have successfully used the method in treating two female patients with cavernous haemangiomas in the orbit. In the first patient, the IFN therapy was followed by surgical removal of the tumour. In the second patient, surgical operation was not suitable. After the IFN therapy, the patient's state improved both subjectively and objectively. Decreased level of bFGF in urine prove to be the criterion for successful treatment by IFN. The authors also stress the risk of complications in sucklings. When choosing the method of treatment, they emphasize the necessity of interdisciplinary cooperation.