[Anterior diverticulum after total laryngectomy]. / Uchylki przedniej sciany gardla po laryngektomii calkowitej.

UNLABELLED: Pharyngeal anterior diverticulum, also known as pseudoepiglottis is one of the most common disorders after total laryngectomy. THE AIM OF THIS STUDY: was to evaluate frequency of diverticulum after different types of total laryngectomy and severity of dysphagia in patient with developed pseudoepiglottis. MATERIAL AND METHODS: The material consisted of 80 patients after following surgeries: total laryngectomy with hyoid bone resection, total laryngectomy without hyoid bone resection, total laryngectomy with hyoid bone and base of tongue resection, total laryngectomy and partial pharyngectomy with hyoid bone resection and total laryngectomy and partial pharyngectomy with hyoid bone and base of tongue resection. To evaluate morphologic and functional disorders clinical examination, videopharyngoscopy and cineradiography of swallow act were performed. RESULTS: Pseudoepiglottis was present in 34 (43%) of patients, mainly after surgeries without hyoid bone resection. There was no correlation between diverticulum formation and pharyngeal closure (muscular or non-muscular), shape of closure (vertical or "T"), pharyngocutaneous fistula, radiotherapy. CONCLUSIONS: This study indicates that leaving hyoid bone is a major risk factor for developing pseudoepiglottis.

[Pharyngeal constrictor muscles closure after total laryngectomy is that really beneficial?]. / Czy zszywanie zwieracza gardla dolnego po laryngektomii calkowitej jest korzystne?

UNLABELLED: High pressure of pharyngo-esophageal segment is the most important factor of impaired development of alaryngeal speech (esophageal speech, tracheoesophageal speech) after total laryngectomy. To prevent pharyngo-esophageal spasm in Department of Otolaryngology in Szczecin are used: pharyngoesophageal plastic surgery with interposition of vascular thyroid flap, two-layer (only mucosa) non-muscular pharyngeal closure and tree-layer closure (mucosa and muscle layer leaving inferior pharyngeal constrictor unsutured). AIM OF STUDY: The aim of this study was to compare the pharyngo-esophageal pressure between patients after pharyngo-esophageal plastic surgery and following the non-muscular pharyngeal closure. MATERIAL AND METHODS: One hundred eighty two subjects after total laryngectomy were enrolled in this study, and included 108 patients subjected to the pharyngo-esophageal plastic surgery, 44 patients who underwent the two-layer pharyngeal closure, and 30 patients with the tree-layer closure. To evaluate the pharyngo-esophageal pressures manometric tests were performed, and to asses the pharynx morphology videopharyngoscopy was used. RESULTS: The average pharyngo-esophageal pressure in the group after the pharyngo-esophageal plastic surgery was 32 (min.-5, max. 50) mmHg. After the two-layer non-muscular pharyngeal closure mean pressure was 35 (min.-17, max.-40) mmHg, and after the tree-layer non-muscular pharyngeal closure the average pressure was 22,42 (min. 5, max. 40) mmHg. The average pharyngo-esophageal pressure was significantly lower (p < 0.01) among patients after the tree-layer non-muscular closure. CONCLUSION: The study suggests that the tree-layer non-muscular pharyngeal closure with inferior pharyngeal constrictor unsutured is the preferable method to prevent pharyngo-esophageal spasm after total laryngectomy. However, the efficacy and safety of this surgical procedure should be explored in further multicenter studies.

Clinical characteristics of laryngeal cancer in BRCA-1 mutation carriers.

BACKGROUND: The aim of this study was to analyze the occurrence of clinical features characteristic of breast cancer type 1 susceptibility protein (BRCA-1)-dependent tumors in a series of BRCA-1 mutation carriers with laryngeal cancer. PATIENTS AND METHODS: The clinical features of five laryngeal cancer patients with BRCA-1 mutations registered in our center were analyzed for: sex, age at diagnosis, age at operation, tumor size and localization, histopathological subtype and grading, lymph node and distant metastases, mode of treatment and long term results of the therapy. RESULTS: The five patients were all men, with an average age at diagnosis of 52.4 years. The majority of the patients had clinical features typical of BRCA-1-dependent tumors: four out of the five patients had advanced staging at the time of diagnosis and in three of them the disorder disseminated within one year of follow-up. CONCLUSION: Since laryngeal carcinomas in men with BRCA-1 mutations show clinical features characteristic of BRCA-1 dependent tumors, it is reasonable to consider treatment modifications appropriate for this sub-group of tumors.

[Selected issues regarding implementing alternative medicine with special reference to the patients with laryngological problems]. / Wybrane zagadnienia dotyczace zastosowania leczenia niekonwencjonalnego ze szczególnym uwzglednieniem chorych z problemami laryngologicznymi.

The review of the literature and some media data referring to chosen methods of unconventional treatment, its history of the development in Poland and around the world has been made in this paper (homeopathy, waxing of ears, bio-energy therapy) and the increasing interest among the treated patients has been shown. It is essential that the doctors (including laryngologists) while carrying out the interview should take the unconventional way of treatment of patients into consideration. This may explain the registering of patients to appropriate treatment in the advanced state of illness, which is particularly unprofitable in cancer-afflicted states.

[Morphology of the glottis and perceptiv-acoustic characteristic of the voice and speech after extended fronto-lateral epiglotttoplasty]. / Morfologia glosni i charakterystyka percepcyjno-akustyczna glosu i mowy po laryngektomii fronto-lateralnej poszerzonej z nastepowa epiglotoplastyka.

UNLABELLED: For optimalisation glottis morphology and its phonatory function after frontolateral laryngectomy (FLL) the reconstruction of larynx is made; in Clinic of Otolaryngology the most common is using epiglottis wit or without its vertical incision. AIM OF THE STUDY: the influence of widening laryngeal resection and epiglottis incision on shape of reconstructed glottis, level and degree of phonatory closure and perceptive--acoustic characteristic of voice and speech. MATERIAL: 39 patients (38 M and 1 F) after FLL widened of false vocal cord (n = 11), false vocal cord and part of cricoid cartilage (n = 22), whole cricoid cartilage (n = 6). Vertical incision of epiglottis was made in 31 cases. Mean age was 52 (min.-39, max.-70) years. METHODICS: videolaryngoscopic examination, subjective voice estimation using GRBAS scale, objective phonetic--acoustic voice analysis. RESULTS: In videolaryngoscopic examination the most common shape of glottis was irregular triangle (n = 24), rhombus (n = 7), half--moon (n = 2), irregular (n = 6). 2 patients were using whisper. In spectrographic recordings (n = 39) only noise character of stimulation source was in 2 patients, noise--periodic with noise component present in whole acoustic spectrum in 37. F0 for single word and sentence vocalized in affirmative and interrogative form had the value of male voices and its changes during speaking were well noted. In subjective and objective estimation, the worse voice quality was after FLL widened of false vocal cord, part or whole cricoid cartilage. CONCLUSION: 1) FLL with subsequent epiglottoplasty in 94% of patients makes satisfactory morphologic and biophysical conditions for production of voice and sociological efficient speech. 2) Widening resection of false vocal cord, part or whole cricoid cartilage has unbeneficial influence on perceptive--acoustic characteristic of voice and speech.

Pleomorphic adenoma of salivary glands does not appear to be a BRCA-1-dependent tumour in a Polish cohort.

BACKGROUND: The aim of the study was to examine whether pleomorphic adenoma of salivary glands can occur on the basis of constitutional BRCA-1 mutations. MATERIALS AND METHODS: Two hundred and sixty-eight patients affected by mixed tumour of salivary glands were examined for occurrence of three BRCA-1 mutations dominating in Poland. RESULTS: BRCA-1 mutation was detected in only one of the patients, a female affected by breast cancer and pleomorphic adenoma of parotid gland. Parotid gland tumour showed clinical and histopathological features of typical pleomorphic adenoma with no morphological features of high-grade malignancy, which are characteristic of BRCA-1-dependent tumours. CONCLUSION: Considering the low frequency of BRCA-1 mutation in the examined group and also the absence of features characterizing BRCA-1-dependent tumours in the only BRCA-1-positive case, pleomorphic adenoma of salivary glands should not be recognized as a BRCA-1 dependent tumour.

Constitutional CHEK2 mutations are associated with a decreased risk of lung and laryngeal cancers.

Mutations in the CHEK2 gene have been associated with increased risks of breast, prostate and colon cancer. In contrast, a previous report suggests that individuals with the I157T missense variant of the CHEK2 gene might be at decreased risk of lung cancer and upper aero-digestive cancers. To confirm this hypothesis, we genotyped 895 cases of lung cancer, 430 cases of laryngeal cancer and 6391 controls from Poland for four founder alleles in the CHEK2 gene, each of which has been associated with an increased risk of cancer at several sites. The presence of a CHEK2 mutation was protective against both lung cancer [odds ratio (OR) = 0.3; 95% confidence interval (CI) 0.2-0.5; P = 3 x 10(-8)] and laryngeal cancer (OR = 0.6; 95% CI 0.3-0.99; P = 0.05). The basis of the protective effect is unknown, but may relate to the reduced viability of lung cancer cells with a CHEK2 mutation. Lung cancers frequently possess other defects in genes in the DNA damage response pathway (e.g. p53 mutations) and have a high level of genotoxic DNA damage induced by tobacco smoke. We speculate that lung cancer cells with impaired CHEK2 function undergo increased rates of cell death.

History of voice rehabilitation following laryngectomy.

INTRODUCTION: The history of voice rehabilitation following laryngectomy is as long as the history of laryngectomy itself. The multitude of methods which have been employed to reduce the disability associated with the loss of the larynx, illustrate the difficulty of finding an optimal method of reestablishing verbal communication while preserving the ability to breathe and swallow. MATERIAL AND METHODS: The world literature was reviewed using various Internet and medical search engines and library facilities. Landmark articles were identified and summarized. RESULTS: A coherent history of voice rehabilitation following laryngectomy was constructed. DISCUSSION: The methods employed to reestablish voice after extirpation of the larynx may be grouped into the categories of: esophageal speech, surgical methods of creating competent tracheo-pharyngeal shunts to create lung powered voice with and without the use of prosthetic devices to prevent aspiration, "near-total" resection of the larynx with dynamic phonatory shunt, and the use of external pneumatic or electrical devices to create sound which is then transmitted through the oral cavity and pharynx. CONCLUSION: For the past two decades, simple shunt devices inserted either primarily, at the time of laryngectomy, or later as a secondary procedure, have mainly supplanted the other methods of voice rehabilitation, with the exception of an occasional patient who has acquired good esophageal speech, or for whom external devices may be the only practical method of voice production.

Familial association of laryngeal, lung, stomach and early-onset breast cancer.

This study analyzes the incidence of different types of cancer among 2839 first-degree relatives of 760 consecutive, unselected laryngeal cancer patients, compared with the general population. A statistically significant excess was seen for other cancers of the larynx (SIR: 400), lung (SIR: 135) and stomach (SIR: 271), and early-onset breast cancer (SIR: 287). Familial laryngeal cancer may not be a single site-specific cancer syndrome.

Clinical and epidemiological features of familial laryngeal cancer in Poland.

BACKGROUND: Laryngeal cancer has one of the worst recurrence rates for any malignancy, is known to be influenced by several environmental factors, and it is significantly more common in males than females. Familial clusterings of laryngeal cancer have been reported but no systematic evaluation of the clinical feature of the disease or an in-depth analysis of familial forms of the disease has been made. In this study we wished to determine if there are any clinical features of the disease that may be useful for the identification of genetic susceptibility loci associated with the disorder. METHODS: Seven hundred and fifty-three unselected consecutive laryngeal cancer patients were analyzed depending on sex, age, smoking behavior, and clinical features (localization, tumor size, lymph node metastases, grading, and staging) and the presence of cancer among first-degree relatives. The presence of at least a second relative affected by laryngeal cancer was considered to be a Familial Larynx Cancer (FLC) case (44 patients). RESULTS: Women in the FLC group had larger tumors, higher proportion of lymph node metastases, higher grading, staging, and a tendency towards supraglottic localization than the sporadic larynx cancer cases. The aggressive pattern characterized by presence of metastases, tumor size >2, and grading=3 revealed to be significantly associated with FLC (OR=10.02, p=0.0003). CONCLUSIONS: The study revealed a distinct clinical pattern of disease in familial cases of laryngeal cancer, which may provide a valuable basis for the identification of genetic determinants of this malignancy.

[Diagnostic problems of rare cerebellopontine angle tumors]. / Problemy diagnostyczne w rozpoznawaniu rzadkich guzów kata mostowo-mózdzkowego.

UNLABELLED: Astrocytoma (neuroepithelial tumor) determine about 25% all the cerebroma but their original location in cerebellopontine angle is seldom. In case of this kind of tumors in this place, the symptoms can be non-characteristic and similar to these, which appear in the acoustic neurinoma. The most important in case of this diagnosis is both that this tumors can infiltrate of the brain tissues and the fact that they can transformate toward the anaplastic astrocytoma or glioblastoma multiforme (very malignant tumors). MATERIAL AND METHODS: [corrected] A rare case of astrocytoma presenting as a cerebellopontine angle tumor is discussed. The special characteristics of this tumor and unusual clinical course are disscused. CONCLUSION: The early diagnosis of the astrocytoma increases the patient's chance on convalescence and limits extension of the operation, and consequently of the neurological complication.

[Glottis morphology in rheumatoid arthritis]. / Morfologia glosni w reumatoidalnym zapaleniu stawów.

UNLABELLED: Rheumatoid arthritis (RA) is an inflammatory disease of the connective tissue, which can affect larynx and cricoarytenoid (CA) joints, as well. The AIM of this study was assessment of 1) glottis morphology and frequency of laryngeal structures involvement in RA of peripheral joints and 2) evaluation of rheumatoid patients' complaints which can indicate the laryngeal involvement. MATERIAL: 77 patients were examined (71 women and 16 men) in the age from 19 to 77 (mean 56,69). RA duration was from 1 month to 29 years (mean 9,38). RA was active in 61% of patients. METHOD: Anamnesis, physical examination, videolaryngoscopy, computer tomography, electromyography. RESULTS: The most frequent complaints were: foreign body sensation in the throat (51%), hoarseness (47%) with accompanying weakness of voice and dysphagia. In videolaryngoscopic examination swelling and/or redness of mucosal tissue in CA area was observed in 45% of patients. In 3 women impairment of vocal folds was stated, in 1 it was limitation of right vocal fold mobility and in 2 bilateral vocal folds immobility and tracheotomy was necessary. In patients with active RA and with foreign body sensation in the throat significantly more often inflammatory changes in larynx were visible. CONCLUSIONS: 1. Rheumatoid inflammation in the larynx is demonstrated by swelling and/or redness of mucosal tissue in CA area and in some individuals by its immobilization. 2. In the periods of RA intensification complains of foreign body sensation in the throat and hoarseness may indicate on laryngeal involvement. Our study results justify a suggestion of continuation of the morphological and functional changes estimation in patients with peripheral RA.

[Acute ear trauma caused by failure of mobile phone/cellular phone]. / Ostry uraz akustyczny i termiczny ucha spowodowany awaria telefonu komórkowego.

The case of acute acoustic and burn ear trauma caused by mobile phone failure is presented. A woman aged 24 after dialling a phone number and putting a phone into the ear heard a sound of high frequency and intensity. At the same time she felt a pain and heat and there was also a smoke from the phone. With otoscopic examination a burn of external acoustic duct (I0) and sensitive hearing loss (examination made with tuning forks) were stated. The patient did not agree to stay in hospital and she was administered prednizone, trimetazidin and xantylol nicotinate. Audiometric examination, which was made on another day, showed hearing loss of 30 dB for frequency 4000Hz. After 2 days she started to hear a sound like a sea noise in her right ear. In the control examination, made 2 weeks after injury, no abnormalities in audiogram were stated but the patient steal heard ear noise. She continued to take trimetazidin and betahistin and after one month all symptoms of ear injury relieved. Patient is still under control of otolaryngologist. Unfortunately our efforts to explain the cause of such accident from phone producer were ineffective. Described case proves that mobile phone failure can be a cause of acute ear injury.

[Perceptiv-acoustic characteristic after supracricoid laryngectomy with cricohyopexy or cricohyoepiglottopexy]. / Charakterystyka percepcyjno-akustyczna glosu i mowy po laryngektomiach nadpierscieniowych z CHP lub CHEP.

INTRODUCTION: Supracricoid laryngectomy with cricohyopexy (CHP) and cricoepiglottopexy (CHEP) are the one of functional laryngectomy. AIM: The aim of the study is phonation assessment of the reconstruction larynx. Material and methods. The examined group consisted of 58 patients (49 males and 9 female). An average age 54. 32 patients underwent CHP and 26-CHEP CHP was performed in following modes: a) 1 arytenoid cartilage left in 17 cases, b) 2 arytenoid cartilages left in 14 cases and c) 1 arytenoid cartilage left and second was resected with subsequent reconstruction in 1 case. The arytenoid cartilage was reconstructed in 19 cases (8 after CHP and 11 after CHEP). The vascularized thyroid lobe was used to the reconstruction of arytenoid cartilage in 8 cases (6 after CHP and 2 after CHEP), cuneiform or corniculate cartilage was used in 4 patients (1 CHP and 3 CHEP) and mucous membrane in 7 cases (1 CHP and 6 CHEP). RESULT: Socially efficient speech was found in 74% patients and the results were better after CHEP. CONCLUSION: The phonetic-acoustic structure of voice and resonant speech was considerably different from the phonetic-acoustic structure of voice and speech under physiologic conditions. These differences applied to segmental (formant structure, frequencies, noise range), as well as suprasegmental voice features.

[Paresis of the vagus and accessory nerve in the course of the herpes zoster]. / Porazenie nerwów X i XI w przebiegu pólpasca.

INTRODUCTION: The cephalic zoster is a cranial neuritis, with great tendency to diffusion along the nerves. The objective of this article is both to report a case of cranial polineuritis due to herpes zoster infection with laryngeal involvement and review of the relevant literature. MATERIAL AND METHODS: The case of 57-years-old man with unilateral laryngeal mucosal eruptions and complete left vocal paralysis is reported. Laryngeal symptoms, diagnostic criteria and therapeutic result are described. CONCLUSION: 1. In cases of head and neck herpes zoster, the investigations of all cranial nerves should be carried out, and the larynx must always be examinated; 2. Co-occurrence of the neuralgic pain (radiating especially to the ear or the occipital region) with unilateral laryngeal palsy should raise a suspicion that herpes zoster infection may by the causative factor; 3. The explanation of the etiologic cause of a vocal fold paralysis in idiopathic cases, may yield not only diagnostic, but also therapeutic value.

[Glottis morphology after supracricoid laryngectomy with CHP or CHEP--protetective and respiratory function assessement]. / Morfologia glosni po laryngektomiach nadpierscieniowych z cricohyopexia (CHP) lub cricohyoepiglottopexia (CHEP)--ocena funkcji ochronnej i oddechowej.

The aim of this study was to evaluate morphology and assess of the protective and respiratory function of larynx after cricohyopexis (CHP) and cricohyoepiglottopexis (CHEP). The examined group consisted of 58 patients (49 males and 9 female) operated between 1984-2002. An average age 54 (min. 36, max. 67). 32 patients underwent CHP and 26 had CHEP. CHP was performed in following modes: a) 1 aryteroid cartilage left in 17 (43,75%) cases, b) 2 aryteroid cartilages left in 14 (43,75%) cases and c) 1 aryteroid cartilage left and second resected with subsequent reconstruction in 1 (3,31%) case. In CHEP patients the operations were a) 17 (65,38%), b) 4 (15,38%) and c) 5 (19,23%) respectively. The aryteroid cartilage was reconstructed in 19 cases (8 after CHP and 11 after CHEP). In the reconstruction of aryteroid cartilage vascularized thyroid lobe was used in 8 cases (6 after CHP and 2 after CHEP), cuneiform or corniculate cartilage was used in 4 patients (1 CHP and 3 CHEP) and mucous membrane in 7 cases (1 CHP and 6 CHEP). To determine morphology of larynx, videolaryngoscopy was done. Thus examination distinguished 5 neoglottis shapes: oval (62,1%), longitudinal (13,8), triangle (8,6%), irregular (6,9%). In 8,6% cases the neoglottis was invisible. Decaniulation was possible in 66% patients, 24 (75%) after CHP and 14 (54%) after CHEP. In the group with both aryteroid cartilages left, 16 (89%) patients were decannulated. 31 (54%) patients complained about occasional liquid aspiration. To evaluate dysphagia, subjective complaints between 6-12, 12-18 and >18 months after surgery were analyzed. The swallowing was improving in the course of time. Between 6 and 12 months after surgery 31 (54%) subjects developed dysphagia, but after 18 months only 3 (5,1%) complained about swallowing impairment. Patients without aryteroid cartilage reconstruction or decanulated had more efficient swallowing.

[Objective assessment of the respiratory function of the larynx after fronto-lateral laryngectomy with epiglottoplasty and after supracricoid laryngectomy with CHP or CHEP]. / Obiektywna ocena funkcji oddechowej krtani po laryngektomii fronto-lateralnej poszerzonej z epiglottoplastyka oraz nadpierscieniowej z CHP lub CHEP.

Enlarged fronto-lateral laryngectomy with epiglottoplasty and supracricoid laryngectomy with cricohyoidopexy (CHP) or cricohyoidoepiglottopexy (CHEP) differ from each other as regards surgical technique, extent of the resection and method of reconstruction. Despite of that, selected carcinomas of the true vocal cord staged as T2N0, which are included in indications to all mentioned laryngectomies, can be equally treated with each of these methods. The aim of this study is objective evaluation of the respiratory function of the larynx after three types of operation and comparison of the results. Material included 64 patients treated during the period of 1993-2002: 39 patients after supracricoid laryngectomy (18 with CHP and 21 with CHEP) and 25 after enlarged fronto-lateral laryngectomy with epiglottoplasty. Spirometry was performed before and after the operation in 27 cases and only after the operation in 34 cases. The shapes of flow-volume loops and 32 spirometric parameters were evaluated. The decannulation rates were: a) 98,5% after enlarged fronto-lateral laryngectomy with epiglottoplasty, b) 80,6% after supracricoid laryngectomy with CHP, c) 70,1% after supracricoid laryngectomy with CHEP. Although the decannulation rate was better after CHP than after CHEP the spirometric parameters were better in patients after CHEP than in those after CHP. The airflow similar to normal was found in 15% patients after CHEP as well as after CHP and in 28% patients after epiglottoplasty. There were no restrictive abnormalities in the whole group of operated patients, but occurrences of obturation, especially inspiratory, were quite often. In conclusion, which follows from the comparison of three types of reconstructive laryngectomies, better results of respiratory function of the larynx were found after epiglottoplasty than after supracricoid laryngectomy with CHEP or CHP.

[Pyocele of the posterior ethmoidal cell as the cause of visual loss]. / Pyocele komórki sitowia tylnego jako przyczyna slepoty.

INTRODUCTION: Mucocele is a cystic slow-growing lesion of paranasal sinuses with sterile content. Pyocele contains purulent substance. Muco-/pyocele is rarely localised in ethmoid or sphenoid sinus and may involve the orbit and cause ophthalmic complications including visual loss. MATERIAL AND METHODS: We report the case of a 25-year-old woman who suffered from sudden visual loss of her left eye. She was treated for optic nerve papillitis by neurologists and ophthalmologists with steroids and recovered after about 6 weeks. Magnetic resonance imaging was ordered to find the cause of visual disturbance and revealed an oval-shaped lesion in the left posterior ethmoid sinus. The patient underwent functional endoscopic surgery and transethmoidal marsupialisation of the muco-/pyocele. RESULTS: After endoscopic microsurgery the patient recovered without complications, she is under follow-up and has no symptoms of any disease. Because there were no evidence of any other causes of optic nerve affection, the muco-/pyocele was regarded as the cause of visual loss. CONCLUSIONS: The posterior ethmoid muco-/pyocele can present with ophthalmic manifestations including blindness. Endonasal operation and steroids administration are the treatment of choice in such cases.

Cancer Familial Aggregation (CFA) and G446A polymorphism in ARLTS1 gene.

ARLTS1--a member of ADP-ribosylation factor family, is a newly described candidate tumour suppressor gene. Recent studies show that a nonsense polymorphism, G446A (Trp149Stop), in ARLTS1 gene is significantly more frequent in familial cancer cases than in sporadic cancer cases. This study presents analysis of the germ-line G446A polymorphism in the ARLTS1 gene among 1686 consecutively collected patients with breast cancer, prostate cancer, malignant melanoma, thyroid papillary cancer or laryngeal cancer in Poland. The G446A allele was present in 1.81% (9/497) breast cancer patients, 1.46% (5/343) prostate cancer patients, 1.76% (7/397) melanoma patients, 1.65% (3/182) thyroid papillary carcinoma patients and 2.68% (8/299) of laryngeal cancer patients. The frequency of this polymorphism in the control group was 1.45% (8/552). Differences in the frequency of the G446A polymorphism between case and control groups were not statistically significant. In addition, there was no significant difference in the number of Cancer Familial Aggregations (CFA) among breast, prostate, thyroid or laryngeal cancer cases harbouring the G446A polymorphism, when compared to the G446A negative cases. Interestingly out of the CFA melanoma cases, 4/6 (66.6%) were found to harbour the change compared to only 20.2% (69/341) sporadic melanoma cases. This difference was statistically significant (p = 0.02, OR = 7.8). The results of this study suggest that the G446A in ARLTS1 gene is probably not associated with an increased risk of sporadic breast cancer, prostate cancer, melanoma, thyroid papillary cancer or laryngeal cancer. Moreover, the G446A polymorphism is not significantly more frequent in CFA cases except for families in which the proband had melanoma. To confirm this result more cases of melanoma should be analysed.

Association between early-onset breast and laryngeal cancers.

Recent studies suggest that there are groups of genes that predispose simultaneously to both early-onset breast and laryngeal cancer. Studies were performed on a large series of unselected patients with laryngeal cancer diagnosed in Szczecin, Poland. Pedigrees of 683 laryngeal cancer patients were analysed for the frequency of early-onset and late-onset breast cancer among first degree relatives. The observed frequencies of breast cancer in these families were compared to those expected. In addition, common mutations/variants in the 3 genes BRCA1, NOD2 and CYP1B1, known to be associated with early-onset breast cancer, were assessed to determine their frequency in 348 unselected laryngeal cancers. The average age at diagnosis of LC among patients, who had relatives affected by BC diagnosed under the age of 50 years was 57.62. In comparison LC patients reporting a first degree relative affected by BC diagnosed above 50 years of age, had an average age of diagnosis of 66.00 years, which was significantly different (p=0.0064). Similarly, the average age of diagnosis of BC among patients with LC diagnosed under age of 50 years was 46.7 years and whereas LC patients with tumors diagnosed above 50 years had relatives diagnosed with breast cancer at an average age of 53.37 years, which was significantly different (p=0.02). From the 348 consecutive ascertained laryngeal cancer patients who had molecular studies undertaken, breast cancers among first degree relatives were found in 18 families including 8 with breast cancers diagnosed less than 50 years of age. A molecular basis was identified (the CYP1B1 355T/T genotype) in only 2 of the 8 early cases suggestive of there being additional, as yet unknown genes that are associated with an early-onset laryngeal-breast cancer phenotype.