Search

Aim: The aim of the study is to present a rare case of metastatic tumor localized in pharyngeal tonsil being the first symptom of gastric carcinoma. Case report: Retrospective analysis of medical documentation was performed. A 44-years-old men was referred to the Department presenting a complaint of enlarged right pharyngeal tonsil. The mass was not painful. Patient reported tobacco smoking (20/day) for many years. In the intraoral examination a 2 cm right palatine tonsil was present. There was a slight asymmetry between tonsils. Local lymph nodes were not enlarged. FNAC was performed stating suspicion of carcinoma. Patient was qualified for the tonsillectomy under general anesthesia. Histopathological finding was adenocarcinoma (G2) infiltration. Due to no correlation of clinical presentation and histopathological finding PET-CT examination was performed revealing massive gastric infiltration, tumor of the left adrenal gland, increased 18-FDG uptake in epigastrial and para-aortic lymph nodes. Gastroscopy and biopsy was performed. Histopathological material confirmed adenocarcinoma presenting the same immunotype as tonsillar. Patient was qualified for paliative treatment. He died 6 weeks after stating the diagnosis. Metastases to the pharyngeal tonsils constitute rare disease entities. Mostly the primary site is localized in the region of head and neck. In our case the metastatic tumor of the right tonsil was the first sign of the gastric cancer.

Objectives: Salivary gland tumors account for only 3% of head and neck tumors. Their character is mostly benign, although tumors of the submandibular gland are more often malignant. The purpose of this article was to evaluate the structure of patients operated due to submandibular gland tumor and to study the correlation between fine-needle aspiration cytology and postoperative histopathological examination. Methodology: We retrospectively analyzed the medical records of all patients with submandibular gland tumors. The collected data included the demographic structure, results of preoperative fine-needle aspiration cytology and postoperative histopathologic examination. Results: We analyzed 58 patients – 35 women and 23 men with a mean age of 56.6 years. The character of the lesion was benign in 45 cases and malignant in 13. The most frequent benign tumors were pleomorphic adenoma, inflammatory tumor and Warthin’s tumor, whereas most common malignancies were carcinoma planoepitheliale and lymphoma . There were four recurrences. Moreover, we compared results of preoperative fine-needle aspiration cytology and histopathological findings. The accuracy of this examination was almost 83%; 56% of incorrect results involved nondetection of malignancies. The sensitivity and specificity in the diagnosis of those tumors were 58.3% and 97.5%, respectively. Conclusions: The most common types of submandibular gland are pleomorphic adenoma and carcinoma planoepitheliale and lymphoma amongst malignancies. Fine-needle aspiration cytology is accurate in the preoperative diagnosis, mistakes are mostly caused by underdiagnosis of malignant tumors.

Immunosuppression is a characteristic feature of chronic kidney disease. It may lead to the increased risk of infections and neoplastic diseases occurrence. We present an unusual case of 57-years-old women with uncommon neoplasm of the head and neck region – osteoclastoma.

Approximately 555,000 new cases of head and neck cancer (HNC) are diagnosed annually worldwide. Moreover, second primary malignancy (SPM) occurs more commonly in the head and neck than in any other body region. A 67-year-old female patient was admitted to our Department for removal of an upper lip tumor. The patient underwent excision of the lip tumor under general anesthesia. Postoperative histopathology revealed a polymorphic, low-grade adenocarcinoma. Three weeks later, the patient was re-admitted to extend the margin of excision and perform lymphadenectomy. On physical examination, a second primary synchronous lesion was found on the left side of the hard palate. Lymphoscintigraphy was performed to determine the lymph node field and the sentinel lymph node. On ultrasonography, the lymph nodes were not enlarged. Extended excision of the upper lip was performed, and a 5-mm, hard palate tumor was removed with a margin of unchanged tissue. The patient was scheduled for adjuvant treatment. The criteria for a synchronous malignancy are as follows: both tumors must be malignant on histopathology, there must be a distance of at least 2 cm of unchanged mucosa between the index tumor and the primary tumor, the possibility that the second tumor is the metastasis of the index tumor needs to be excluded. In our patient, all these criteria were met. A thorough workup should include medical history, physical evaluation, and imaging, and it should be carried out on every step of treatment and during long-term follow-up in patients after cancer treatment. This is crucial, because not only is there a possibility of recurrence or metastases, but also a considerable percentage of patients may have a second primary lesion.

Salivary gland neoplasms represent about 3% of head and neck tumors. The area most affected by tumors is parotid salivary gland (standing for about 80% of all cases). The most common type of the neoplasm is pleomorphic adenoma (which accounts for 80-90% of all diagnoses). One of the rare diagnoses in this region comprises synovial sarcoma, as it mainly occurs in lower extremities. In head and neck region it accounts for about 3% of all diagnoses. About 20 cases have been described in this region, so far. The etiology of the disease remains unknown, but there are reports linking synovial sarcoma with the rearrangement in the gene responsible for chromosomal transcription t(X;18) (p11,q11).

Neoplasms of the head and neck stands for 6th most common malignant neoplasms in terms of morbidity in Poland. The effectiveness of the treatment depends on the complete resection and presence of the lymphatic metastases, detection of which might not be possible at the moment of diagnosis. Routine performance of the elective neck dissection among patients without lymphadenopathy (cN0) may favour the occurrence of surgical complication and seems to be too invasive procedure, particularly in group with non-advanced tumours (cT1-2). The sentinel lymph node biopsy is diagnostic procedure, which allows to exclude presence of metastases in nodes draining lymph directly from primary tumour. This technique let for a limitation of the extent of the procedure and the evaluation of the lymphatic tissue under the microscope in order to exclude presence of neoplastic cells. Sentinel lymph node biopsy is commonly use among patients with malignant melanoma of the skin and breast cancer. Multiple studies prove its usefulness during treatment of patients with head and neck cancer.

Immune checkpoints refer to a plethora of inhibitory pathways built into the immune system, and recent studies have emphasized the role of these checkpoints in carcinogenesis. The aim of the present study was to evaluate two major immune checkpoints, the cytotoxic T-lymphocyte antigen 4 (CTLA-4) and programmed cell death protein 1 (PD-1), in the serum of 35 patients with stage I and II breast cancer. Serum concentrations of CTLA-4 and PD-1 were measured at three time points: i) Preoperatively; ii) during anesthesia following the harvesting of sentinel nodes (SNs); and iii) 24 h postoperatively. Control samples were obtained from 25 healthy, age-matched females. Assessment of CTLA-4 and PD-1 expression levels was conducted using flow cytometry. A statistically significant difference in PD-1 expression was identified between breast cancer patients preoperatively and healthy controls (26.31±11.87 vs. 12.72±8.15; P

According to the current guidelines on treatment of breast cancer patients, identification of metastases in the sentinel lymph node (SLN (+)) is not an absolute indication for necessary axillary lymph node dissection (ALND). In our study, we present long-term outcomes of treatment among SLN(+) patients referred for conservative treatment, for example, no further ALND. A total of 3145 breast cancer patients subjected to sentinel lymph node biopsy (SLNB) between November 2008 and June 2015. SLN metastases were identified in 719 patients (22.9%). Locoregional recurrences and distant metastases as endpoints were distinquished. The mean follow-up time for patients after ALND was 36.2 months (6-74 months); 18.8 months (6-38 months) for patients with SLN macrometastases without ALND; and 34.0 months (6-74 months) for patients with micrometastases. Adjuvant ALND was performed in 626 of SLN(+) patients. Conservative treatment was applied in the remaining 93 cases. Among SLN(+) patients without adjuvant ALND, there was one case of recurrence (1.07%). In the group of patients without SLN, metastases recurrence was noted in 32 patients (1.32%). Among SLN(+) patients diagnosed with macrometastases, recurrence concerned 2.01% of analyzed cases (all subjected to ALND). Lack of radical surgical treatment in SLN(+) breast cancer patients did not lead to worsening long-term outcomes. In the occurrence of macrometastases to the sentinel lymph node, abandoning completion axillary lymph node dissection might be a reasonable option. However, it would require continuation of current research, preferably involving a clinical trial.

Introduction: Head and neck squamous cell carcinoma (HNSCC) accounts for about 6% of all malignant cancers. In the epidemiology of oral cavity neoplasm, important risk factors include: tobacco smoking, alcohol abuse, bad oral hygiene, papilloma virus infection, riboflavin and iron deficiency. Objective: The objective of the investigation was a synthesis of Cu(II) complex and the evaluation of antioxidative enzymatic barrier in red blood cells of patients with head and neck tumor as well as in the control group. Materials and methods: For the investigation conduction, a consent of Bioethics Committee number RNN/142/09/KB was obtained. Blood for the examination was obtained from the patients of the Dapartment of Head and Neck Neoplasms Surgery Medical University of Łódź. The experiment was conducted on the group of 40 patients with HNSCC and 40 healthy people, using spectrophotometric method, glutathione peroxidase was marked. Results: The investigation was conducted on the hemolysate obtained from the patients that were divided into two groups – a study group (1 and 2), which consisted of patients diagnosed with head and neck cancer and a control group (1 and 2) – healthy people. A significant statistical result for GPX occurred in control-1 and study-1 group with complex compound Cu(II) (p

The main objective of the ACOSOG Z0011 trial was to determine the impact of abandoning complete axillary lymph node dissection (ALND) on survival of breast cancer patients with sentinel node lymph (SLN) metastasis in whom breast conserving therapy (BCT) had been performed. The aim of our study was to assess the clinical value of intra-operative histopathological examination of SLN. Our study comprised 1284 invasive breast cancer patients in whom sentinel lymph node biopsy (SLNB) was carried out. SLN intra-operative histopathological assessment was routinely performed in patients treated within the first period (07.2013-06.2014). However, the decision regarding intra-operative assessment was made by the surgeon for the patients who underwent this evaluation in the later period 07.2014-06.2015 and were submitted for BCT. BCT was performed in 72.4% of patients. In total, 316 patients (24.6%) developed SLN-metastasis. Within the period 07.2014-06.2015, SLN intra-operative microscopic evaluation was performed in 20.8% of patients submitted for BCT. ALND was omitted in 27.5% of patients demonstrating SLN metastasis, in comparison with 15.5% of the group from the previous period (p=0.0094). The proportion of patients demonstrating macrometastasis in SLN who received conservative treatment to the axilla increased from 5.4% to 23.1% (p=0.0007). The choice of SLN final histopathological assessment may allow for deferral of decision on more extensive surgery of the axilla in patients submitted for SLNB. The omission of routinely-performed SLN intra-operative histopathological evaluation has led to a statistically significant increase in the proportion of patients in whom complete ALND was avoided.

Oncologists now favor more personalized treatment strategies in breast cancer patients. Gene expression analysis has been widely used, but less is known about epigenetic factors, for example, microRNAs (miRNAs). The aim of this study was to determine the relationship between selected miRNAs and receptor status in core biopsies sampled before preoperative chemotherapy in stage III locally advanced breast cancer (LABC) patients. In 37 LABC core biopsies, three miRNAs per sample were analyzed: hsa-miR-93-5p, hsa-miR-190a, and hsa-miR-200b-3p, and hsa-miR-103a-3p as an endogenous control (TaqMan(®) RT-PCR; Applied Biosystems). Receptor status was determined by a dedicated pathologist. The Mann-Whitney U, Shapiro-Wilk, and Levene's tests were used to compare related samples. Levels of miRNA-93 differed significantly in core biopsies of LABC patients with different expressions of ER (estrogen receptor) and PR (progesterone receptor). Higher levels of miRNA-93 were found in ER-negative (p=0.0027) and PR-negative patients (p=0.0185). Levels of miRNA-190 and 200b did not differ significantly in core biopsies of LABC patients who expressed ER and PR differently (p=0.7727, p=0.9434, p=0.6213, and p=0.1717). Levels of miRNA-93, 190, and 200b were not significantly different in core biopsies of LABC patients with different HER2 (human epidermal growth factor 2) expressions (p=0.8013, p=0.2609, and p=0.3222). The assessment of core biopsy miRNA profiles and receptor-based subtypes may identify new signaling pathways for improved breast cancer classification.

Liposarcoma is the most common soft tissue malignant tumor. It mostly arises in the subcutaneous tissue of shoulders, limbs and neck, and retroperitoneal space, but head occurrence is very rare. Atypical lipomatous tumor (ALT) is a well-differentiated liposarcoma (WDLPS) and constitutes 40-45% of all liposarcoma cases. A case of 57-year-old woman with a tumor of the left cheek, causing a discreet face asymmetry is presented. The tumor was soft and caused no tenderness. The patient reported no previous injury of the region. Fine-needle aspiration biopsy (FNAB) revealed atypical cells suspected of liposarcoma. MR examination showed fascicles of adipose tissue, which made the left cheek prominent. The patient was operated under general anaesthesia. Adipose tissue of the left cheek was removed. Postoperative course was uneventful. The final histopathological diagnosis - was atypical lipomatous tumor/well-differentiated liposarcoma (ALT/WDLPS). The patient remains under laryngological care. No recurrence of the disease has been observed during the 5 years follow-up.

INTRODUCTION Implantation of the indwelling voice prosthesis has become the preferred method of voice rehabilitation after total laryngectomy. Frequent prosthesis dysfunction remains the major problem. AIM Analysis of the indwelling time and indications for multiple voice prosthesis replacements. METHODS Forty two patients after total laryngectomy due to laryngeal cancer (6 women and 36 men, mean age 62.1 ± 6.7 years) were included. 184 voice prosthesis replacements were analyzed (1271 patient-months). RESULTS Mean time between replacements was 260 ± 150 days. The indwelling time decreased from 267 days to the first replacement to 100-160 days at eighth and subsequent exchanges (p < 0.01). Most frequent indications for replacement were leakage of fluids through the prosthesis, phonation problems caused by mucosal overgrowth around the prosthesis, inaccurate sizing, deformation, and spontaneous extrusion. The lifetime of voice prostheses was positively correlated with patients' age. Mycological culture of the smear taken from tracheoesophageal fistula at first replacement was positive in 34/41 cases, at the second in 29/31 cases, the third in 29/31, and at the fourth and subsequent replacements in all specimens. Most patients indicated the following factors as possible causes of a shortened lifetime of the prosthesis: use of alcohol and coffee (34% of responders), inappropriate dietary habits (sweets and tough foodstuff - 17%), cleaning of voice prosthesis discordant with the recommendations of the manufacturer (14%). CONCLUSIONS Although our results confirm common indications for voice prosthesis replacement we also showed that the time between exchanges is gradually getting shorter. This observation could have implications for the current reimbursement practices.

Introduction Cigarette smoke and alcohol can generate reactive oxygen species, which may induce DNA double-strand breaks (DSBs), the most serious DNA lesion. In humans, DSBs are repaired mainly by non-homologous end joining and homologous recombination repair (HRR). Several polymorphisms in the DNA repair gene have been extensively studied in the association with various human cancers. In the present work we investigated the association between polymorphisms of two HRR genes, XRCC2 and RAD51, and tobacco- and alcohol-related larynx cancer in a Polish population. Material and methods Two polymorphisms of the XRCC2 gene, –41657C > T (rs718282) and 31479G > A (rs3218536), as well as one polymorphism of the RAD51 gene, –135G > C (rs1801320), were investigated by PCR-RFLP in 253 patients with larynx cancer and 253 age- and sex-matched non-cancer controls. Results Analysis of the gene-smoking and -drinking interactions revealed a weak association between larynx cancer and the –41657C > T polymorphisms of the XRCC2 gene among the moderate alcohol drinkers. The C allele of the –135G > C polymorphism of RAD51 increased cancer risk in the smoker group. Increased risk was also found for heavy drinkers. Additionally, there were no significant differences between distributions of genotypes in subgroups assigned to different TNM stages and grades. Conclusions The results indicated that the –135G > C polymorphism of the RAD51 gene may be associated with smoking- and drinking-related larynx cancer in Poland.

Summary The photodynamic phenomenon is based on the effect of tissue and cell fluorescence, which is excited by the light of a specified wavelength. Photodynamic diagnosing – PDD is based on the effect of ultraviolet rays on neoplastic and dysplastic tissues that emit light different from the healthy tissues. Tissue fluorescence spectrum can be obtained using fluorophoric substances that naturally occur in cells (autofluorescence) or applying photosensitizing substances before exposure (excited fluorescence – PDD). Fluorophores selectively accumulate in higher concentration in pathological than in normal tissues. An appropriate selection of the photosensitizer at an optimal dose, its high affinity to neoplastic cells with the best index of accumulation in the studied tissue seems essential for a good detection of lesions. In order to excite fuorescence, it is also necessary to provide energy using laser beams with the wavelength congruent with the absorption spectrum of the photosensitizer that has been accumulated in the neoplastic or dysplastic tissues. From all the presently available sources of light – lasers, which enable to obtain light with specifically defined parameters, have been applied most frequently. Photodynamic method as practical non invasive way was used in early diagnosis of precancerous lesion and cancer of skin and mucosa of oral cavity, bronchus, esophagus, large intestine, bladder and reproductive organ. Photodynamic therapy (PDT) is based on the cytotoxicity of light-activated photosensitizers accumulated in the cancer tissue PDT is minimally invasive treatment that uses light of a specific wavelength to activate a photosensitizing agent in the tumor and its microenvironment where pathological tissue is damaged. Photodynamic therapy proved effective to damage pathological tissue in cancer of skin and mucosa of oral cavity, bronchus, supper and upper part of digestive tract, bladder, vulva and uterine cervix. Small, last papers show ability of use photodynamic method to diagnosis and treatment head and neck cancer.

In the present study we investigated the association between three polymorphisms of the MUTYH (Tyr165Cys, rs34612342), the OGG1 (Ser326Cys, rs1052133) and the XPD (Lys751Gln, rs13181) genes with head and neck cancer risk. Genotypes were determined in DNA from peripheral blood lymphocytes of 265 patients with head and neck squamous cell carcinoma (HNSCC) as well as 280 cancer-free controls by PCR-restriction fragment length polymorphisms. We found an association between HNSCC and the Ser326Cys (OR 1.69; 95% CI 1.19-2.45) as well as Cys326Cys (OR 4.56; 95% CI 2.07-10.05) variants of the OGG1 gene. The gene-gene interaction between MUTYH and OGG1 as well as OGG1 and XPD polymorphic variants may contribute to higher prevalence of HNSCC. We also found an association between Ser326Cys and Cys326Cys variants of OGG1 gene and smoking status in HNSCC patients (OR 1.97; 95% CI 1.25-3.11), (OR 3.54; 95% CI 1.39-9.04), respectively. Moreover, we also observed a protective association between Tyr165Cys variant of the MUTYH gene and non-smoking status in HNSCC (OR 0.34; 95% CI 0.17-0.66). We also found a link between gene-gene interaction (MUTYH and OGG1 or OGG1 and XPD) and smoking (ORs 2.17-4.20 and 2.18-5.23) or non-smoking status (ORs 0.11 and 7.61) in HNSCC patients, respectively. In conclusion our data showed that the Ser326Cys polymorphism of the OGG1 gene may modify the risk of HNSCC associated with smoking. Finally we suggested that this polymorphism might be used as predictive factor for head and neck cancer in Polish population.

Tobacco smoke-related products and ethanol would induce oxidative modifications to the DNA bases, thereby contributing to larynx cancer. Human 8-oxoguanine DNA N-glycosylase 1 (hOGG1) deals with oxidative DNA damage, and the base changes in the hOGG1 gene may alter the susceptibility of the human cells to tobacco smoke-related compounds and/or ethanol. In the present work, we investigated the association between smoking, drinking or the Ser326Cys polymorphism of the hOGG1 gene and the risk of larynx cancer in a Polish population. It has been reported that the Ser326 allele exhibits higher activity than the Cys326 variant. In this study, 253 age-matched controls and 253 patients with larynx cancer were enrolled. The polymorphism was determined with DNA from blood lymphocytes by polymerase chain reaction. The frequencies (%) of the genotypes were Ser/Ser 65.6, Ser/Cys 30.4, and Cys/Cys 4.0 in the controls and those in patients were 55.7, 36.0 and 8.3, respectively. Stratification of individuals according to their smoking and drinking habits indicated that these habits might be significant risk factors in larynx cancer. The Ser/Cys and Cys/Cys genotypes are significantly associated with the increased risk of larynx cancer. These genotypes increased the risk ratio of larynx cancer among heavy smokers, but did not change the risk in former smokers and moderate smokers. These genotypes also increased the risk of larynx cancer in moderate and heavy drinkers. Therefore, the Cys326 allele of the hOGG1 gene may increase the risk of larynx cancer associated with smoking or alcohol consumption.

Summary The Castleman disease was described for the first time in 1956 by Castleman. It is a rare disease of the lymphatic tissue, manifesting in excessive proliferation of lymphocites B and plasmatic cells in lymph nodes. The etiopathogenesis if the disease still is unknown. The paper presents a case of the Castlemana disease (hyaline vascular type) in 20-year old man with unilateral enlargement of neck lymph nodes. The case exemplifies the difficulties met in diagnostics and treatment of the Castleman disease.

There are still serious diagnostic and therapeutic challenges in case of carcinoma of the larynx, pharynx and oral cavity most often in patients after radiotherapy. An appropriate choice of a site to take a specimen for histopathology is crucial with regard to establish a diagnosis and find an origin of primary lesion and local recurrence. In this regard our attention is focused on those diagnostic methods which enable to detect even small pathologic lesions. Among them is tissue autofluorescence (DAFE). Its advantages are non-invasiveness, high sensitivity and repeatability. The aim of the study was to validate DAFE as a method for early diagnosis and monitoring of treatment efficacy of head and neck cancers. Forty seven patients were included. Each patient had a fibroscopic investigation with the use of white light and light inducing the tissue fluorescence. A specimen for the histopathology was taken from each site which showed fluorescence in order to verify the diagnosis. The presence of neoplastic lesions was always confirmed with histopathology in parallel with the assessment of the lesion area with fluorescence. DAFE is a non-invasive and useful method for the detection of early cancer lesions with the potential to assess the advances of the disease and to monitor its progress.

Summary Introduction Tumors of parotid gland represent a diverse group of neoplasms with varied clinical behaviors. Material and methods The diagnostic methods and treatment of salivary gland tumors are presented in this paper. The authors describe the group of 44 patients with salivary gland tumors treated surgically in ENT Departament Laryngology of Medical University in Łodź. Enucleation, partial and total parotidectomy were performed. Neurosign 100 unit was used during parotidectomy to monitoring course of facial nerve. Results Tumor mixtus was a dominate type of tumors. Only three patients with malignant tumor had facial nerve paralysis after surgery. Conclusions 1. The extent of the surgical procedure depends on histopathologic diagnosis. 2. Using of facial nerve monitoring during parotid surgery improves its outcomes.

Genetic variations in DNA repair genes may affect an individual's susceptibility to head and neck cancer. We performed a case-control study to test the association between head and neck cancer risk and two polymorphisms: the C722T of the XRCC3 and the G135C of the RAD51-genes of DNA double strand break (DSB) repair by homologous recombination (HRR). Genotypes were determined by PCR-restriction fragment length polymorphism (PCR-RFLP). DNA was isolated from peripheral blood lymphocytes of a group of 288 patients consisting of 97 subjects with precancerous hyperplastic laryngeal lesions (PHLL) and 191 subjects with head and neck squamous cell carcinoma (HNSCC) as well as 353 healthy control donors. We found an association between PHLL and the 722CT (OR 6.67; 95% CI 3.02-14.74) as well as 722TT (OR 4.65; 95% CI 2.30-9.43) variants of the XRCC3 gene. Similar relation was observed between these genotypes and HNSCC (OR 2.59; 95% CI 1.61-4.16 and OR 5.54; 95% CI 3.22-9.52, respectively). Moreover, we also observed an association between PHLL (OR 6.04; 95% CI 3.69-9.90) and HNSCC (OR 6.04; 95% CI 3.69-9.90) and the 135GC variant of the RAD51 gene. The gene-gene interaction between XRCC3 and RAD51 polymorphic variants may contribute to higher prevalence of PHLL. The increased risk of this disease was observed in case of the combination of the 722CT/135GC (OR 3.81; 95% CI 1.55-9.75) as well as the 722TT/135GC genotypes (OR 5.33; 95% CI 1.96-14.47). The presence of the same genes combinations plays a part in higher probability of HNSCC occurrence (OR 2.42; 95% CI 1.22-4.79 for 722CT/135GC and OR 3.63; 95% CI 1.69-7.76 for 722TT/135GC). We also found an association between these XRCC3 or RAD51 polymorphic variants and smoking status in PHLL (ORs 2.85-10.28 and 1.82-7.35, respectively) and HNSCC patients (ORs 2.94-13.93 and 1.36-3.94, respectively) as well as alcohol intake among PHLL (ORs 3.44-6.12 and 3.52-8.43, respectively) and HNSCC subjects (ORs 2.71-7.01 and 2.33-4.62, respectively). In conclusion our data showed that the C722T and the G135C polymorphisms of the XRCC3 and the RAD51 genes might be associated with HNSCC. Finally we suggested that these polymorphisms might be used as predictive factor of precancerous lesion for head and neck cancer in a Polish population.

Background The genes of base excision repair (BER) pathway have been extensively studied in the association with various human cancers. We performed a case-control study to test the association between two common single nucleotide polymorphisms (SNPs) of XRCC1 gene with human head and neck squamous cell carcinoma (HNSCC). Methods The genotype analysis of Arg194Trp and Arg399Gln gene polymorphisms for 92 HNSCC patients and 124 controls of cancer free subjects, in Polish population were performed using the PCR-based restriction fragment length polymorphism (PCR-RFLP) with endonuclease Msp I. Results No altered risk has been found individually for these SNPs, however haplotypes analysis showed high association with head and neck cancer. The highest frequency, according to wild-type of Arg194Arg and Arg399Arg genotypes, was identified for Arg194Trp-Arg399Arg haplotype (OR, 2.96; 95% CI, 1.01–8.80). Conclusion Finally, we identified the combined Arg194Trp-Arg399Arg genotype of base excision repair gene XRCC1 that was associated with HNSCC and may have an impact on identification of a high-risk cancer population.