Investigation of The Relationship of TNFRSF11A Gene Polymorphisms with Breast Cancer Development and Metastasis Risk in Patients with BRCA1 Or BRCA2 Pathogenic Variants Living in The Trakya Region of Turkey.

Modifying genes play an exclusive role in the genetic regulation of the risk of breast cancer development in women with a pathogenic variation of BRCA1 or BRCA2. Therefore, it has been suggested that TNFRSF11A, which is among those modifying genes present in breast cancer development, may have a significant role in patients with positive BRCA1 or BRCA2 variations. In our study, we investigated the probable effects of single nucleotide polymorphisms (SNPs) in the TNFRSF11A gene, such as rs4485469, rs9646629, rs34739845, rs17069904, rs 884205, rs4941129 on the risk of breast cancer in patients with BRCA1 or BRCA2 variations. A total of 23 breast cancer patients with pathogenic variations in the BRCA1 or BRCA2 genes, 28 patients with no pathogenic variations in the BRCA1 or BRCA2 genes, and 55 healthy women as a control group, were included in this study. The SNPs were determined with allelic discrimination analysis through the real-time polymerase chain reaction (qPCR) method. There was no statistically significant difference between the SNPs of the TNFRSF11A gene rs4485469, rs9646629, rs34739845, rs17069904, rs884205, rs4941129 and metastasis, estrogen receptor, progesterone receptor and CerB2 receptor positivity between patient and control group (p >0.05). However, the rs4485469 SNP was found to be borderline significant between the patient groups with and without BRCA1 or BRCA2 mutations (p = 0.059). In patients with BRCA1 or BRCA2 pathogenic variations living in the Trakya region of Turkey, we could not determine the relationship between TNFRSF11 SNPs with breast cancer risk.

Skeletal muscle loss during anti-EGFR combined chemotherapy regimens predicts poor prognosis in patients with RAS wild metastatic colorectal cancer.

PURPOSE: We aimed to assess whether anti-EGFR combined chemotherapy regimens are related with loss of skeletal muscle mass and to compare cetuximab and panitumumab therapies in the aspect of skeletal muscle area change as well as to assess whether skeletal muscle mass loss has prognostic significance in the RAS wild mCRC patients. MATERIALS AND METHODS: A total of 56 patients (30 patients in cetuximab arm and 26 patients in panitumumab) who had computed tomography images were retrospectively evaluated at the diagnosis and follow up during the treatment period before progression. RESULTS: During treatment period 24 patients (42.8%) had muscle loss. Of these, 7 (29.2%) patients were treated at first-line and 17 (70.8%) patients were treated at second-line setting. There was no significant difference in the aspect of skeletal muscle loss among cetuximab and panitumumab combined treatment regimens. Median PFS was 9.1 (8.6-9.6) months in muscle loss group and 13.9 (7.2-20.6) months in muscle stable group (p = 0.001). Median OS was 23.4 (95% CI 15.8-31.0) months in muscle stable group and 19.1 (95% CI 17.0-21.3) months in muscle loss group (p = 0.57) at first-line setting. For second-line, median OS was 21.2 (14.7-27.7) months in muscle stable group and 14.4 (6.0-22.4) months in muscle loss group (p = 0.003). CONCLUSIONS: Decrease in skeletal muscle mass before progression on CT imaging is an independent indicator for shorter PFS value in RAS WT mCRC patients who received anti-EGFR combined chemotherapy regimens at both the first and second-line settings. Beside that shorter overall survival values also were significantly seen in patients who had muscle loss during anti-EGFR therapy in the second-line setting.

Temporomandibular joint (TMJ) pain revisited with dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI).

PURPOSE: We aimed to assess the contrast enhancement patterns of the retrodiscal tissue with dynamic contrast-enhanced MR imaging (DCE-MRI) with respect to different temporomandibular joint disc pathologies. Additionally, we questioned the relationship between the temporomandibular joint (TMJ) pain and the contrast enhancement pattern of the retrodiscal tissue regardless of the TMJ disc position. MATERIALS AND METHODS: 52 joints of 26 patients (4 males and 22 females) who have pain in at least at one of their TMJ were included in this study. For the qualitative analysis, the joints were divided into four groups in terms of their disc positions: normal (1), partially displaced with or without reduction (2), totally dislocated with reduction (3) and totally dislocated without reduction (4). Besides, two different joint groups were constituted, namely the painful group and painless group according to the clinical findings without taking the TMJ disc positions into account. Quantitative analyses were made by means of measuring signal intensity ratios (SI) ratio at the retrodiscal tissue (from internal side and external side of the each joint) using DCE-MRI and these measurements were analyzed with paired samples t test to define the difference between the measurements. At the second stage, the time-dependent arithmetical mean values of the SI ratios were calculated for each joint group and significant differences between the groups were questioned using analysis of variance (ANOVA) test. Besides, painful and painless groups which were classified on the basis of the clinical data were compared according to the mean SI ratios found for each joint and the significant differences between these two groups were assessed by means of Student's T test. The results were assessed in 95% confidence interval where the significance level was p<0.05. RESULTS: A significant difference was observed between the internal and external contrast enhancement of the joints with partial displacement. Another significant difference was found between the average time versus SI ratio curves of the four groups. In consequence of the comparison made between the joints classified as painful and painless on the basis of the clinical data, one more significant difference was observed according to the mean SI ratios of the groups without taking the TMJ disc position into account. CONCLUSION: The contrast enhancement patterns in the retrodiscal tissues of the painful joints showed significant differences in comparison with the painless joints. This result supports the hypothesis defending that inflammation and increased vascularity are responsible from the TMJ pain. Besides, the measurements from the retrodiscal tissues of the joints with partial displacement show significant difference between the signals of the displaced and non-displaced parts of the joints. Dynamic contrast-enhanced imaging revealed that different disc malpositions create different contrast enhancement patterns. On this basis, it is assessed that the types of the disc malpositions, which are believed to be acquired pathologies, are correlated with the retrodiscal inflammation degrees.

Nontraumatic giant fat necrosis of the breast presenting as a rapidly growing tumor.

Nontraumatic rapid growing giant fat necrosis of the breast mimicking breast tumors is a rare clinical manifestation. The imaging features of the fat necrosis which range from benign to malign findings may be better explained with associated aetiology. The present paper reports a 54-year old woman with a rapid growing, fibrous, and hard giant mass originating in the subareolar region of the left breast. Mammography and magnetic resonance imaging demonstrated a heterogeneous, well circumscribed mass in 12 × 12 cm size in the left breast. The lesion was suspected as a malignant tumor and underwent core biopsy. The histopathology examination of the biopsy revealed mononuclear cells, foamy, vacuolated, and bubbly cells containing fat. Excision biopsy of the mass was performed and the final pathological diagnosis was confirmed as fat necrosis. The wide clinical and radiologic manifestations of fat necrosis are still difficult to diagnose even with the new diagnostic modalities and a great proportion of these lesions need a biopsy to diagnose.

A low prevalance of purified protein derivative test positivity in Turkish patients with rheumatoid arthritis. Association with clinical features and HRCT findings.

OBJECTIVES: In this study, we aimed to evaluate the frequency of purified protein derivative (PPD) skin test positivity and associated clinical features in RA patients. MATERIALS AND METHODS: We included 94 (80 F, 14 M, mean age: 55.8) consecutive RA patients with a disease duration of 8.7 years. PPD test was performed in all RA patients; clinical features were recorded down; chest x-ray, pulmonary function tests and HRCT were available in all cases. As the control group, we included data of 21 SLE, 44 AS, 27 OA, 16 gouty arthritis and 18 vasculitis patients. RESULTS: The frequencies of PPD positivity in RA (29.8%) and SLE (19%) patients were lower than in patients with AS (65.9%), gouty arthritis (68.8%) and OA (63%) (all p values < 0.01). PPD-positive RA patients were more frequently smokers (p = 0.005) and had a higher rate of RF seropositivity (p = 0.04) than PPD-negatives. PPD was less frequently positive in erosive RA disease (p = 0.033). Chest x-rays and HRCT abnormalities were detected in 41.8% and 62.7% of RA patients, respectively. Frequencies of chest x-ray and HRCT abnormalities in PPD-positive and PPD-negative patients were not different from each other (p > 0.05). CONCLUSION: In our country in which tuberculosis is relatively frequent -contrary to the situation in AS patients- we observed a lower frequency of PPD positivity in RA and SLE patients compared to patients with other rheumatic diseases. We did not find any relationship between PPD positivity and the frequency of chest x-ray, HRCT abnormalities.

Use of dynamic contrast-enhanced magnetic resonance imaging for differentiating between aggressive rectal tumours: two cases with small cell carcinoma and malignant melanoma.

Poorly differentiated small cell carcinomas and malignant melanomas are among the rarest of primary colorectal malignancies. Although very aggressive and lethal, small cell carcinomas and the amelanotic variety of malignant melanomas have similar radiological features to adenocarcinomas. We present two different cases with these unusual tumours, with special emphasis on their dynamic contrast-enhanced magnetic resonance imaging features. The dynamic contrast-enhanced magnetic resonance imaging revealed that these tumours have a faster and stronger enhancement pattern than most adenocarcinomas. The technique is thus potentially useful for the preoperative diagnosis of unusual aggressive tumours and for guiding the choice of treatment.

Visceral fat thickness determined using ultrasonography is associated with anthropometric and clinical parameters of metabolic syndrome.

The aim of this study is to find out the relation between the ultrasonographic (USG) measurements of the abdominal fat thickness and cardiovascular risk factors in metabolic syndrome. The thickness of subcutaneous fat (SF), visceral fat (VF) and preperitoneal fat (PF) was measured using USG in 75 subjects (35 women and 40 men) with metabolic syndrome. The body mass index (BMI), waist circumference (WC), systolic (SBP) and diastolic (DBP) blood pressures, fasting plasma glucose, fasting insulin and lipid parameters of all participants were recorded. Insulin resistance was estimated using HOMA-IR formula. BMI (p < 0.05), WC (p < 0.01), SBP (p < 0.001), DBP (p < 0.05), fasting insulin (p < 0.05), total cholesterol (p < 0.001) and triglyceride (p < 0.001) levels were found in correlation with VF thickness in the female group. There was a positive association between WC and SF thickness (p < 0.05) in the same group. In the male patients, BMI (p < 0.001), WC (p < 0.01), SBP (p < 0.05), DBP (p < 0.05) and triglyceride level (p = 0.01) were significantly correlated with VF thickness. SF thickness was associated with BMI (p < 0.001) and WC (p < 0.01) in this group. There was no relation between PF thickness and clinical variables in both groups (p > 0.05). It can be concluded that VF thickness may have a significant pathophysiological role in the development of the metabolic syndrome.

Imaging of nail-patella syndrome.

Nail-patella syndrome is a rare disorder, which is inherited as an autosomal dominant trait. This condition is also known as hereditary osteo-onychodysplasia or Fong's syndrome. Posterior iliac horns are commonly found in this syndrome and are considered pathognomonic. In this report, we describe the appearance, location, and structure of iliac horns with respect to radiography and magnetic resonance imaging.

Imaging of granulomatous mastitis: assessment of three cases.

Granulomatous mastitis is a benign, inflammatory breast disease of unknown aetiology, which can mimic breast carcinoma in its clinical manifestations. Imaging features of three cases of granulomatous mastitis mimicking breast carcinoma on both clinical and radiographic examination are presented, with special emphasis on the role of dynamic contrast-enhanced-magnetic resonance mammography in the differential diagnosis.

Dynamic MRI in indirect estimation of microvessel density, histologic grade, and prognosis in colorectal adenocarcinomas.

The relations of dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) parameters to microvessel density (MVD), histologic grade, and presence of metastasis were evaluated to establish new prognostic indicators in colorectal cancer (CRC). Fast-low angle shot DCE-MRI parameters (time-intensity curves, TICs; maximal relative enhancement within the first minute, E(max/1); maximal relative enhancement of the entire study, Emax; steepest slope of the contrast enhancement curve; and time to peak enhancement) of 21 CRCs (seven Duke stage B, 12 Duke stage C, and two Duke stage D) were retrospectively evaluated and correlated with corresponding postoperative MVD measurements, histologic grades, and presence of metastasis at 2 years. TICs were classified as type A in nine (43%), type B in seven (33%), and type C in five cases (24%). There was a significant difference between TIC types with regard to MVD (p < 0.05-0.001). Time to peak enhancement, steepest slope of TIC, and E(max/1) were strongly correlated with MVD (r = -0.765, p < 0.01; r = 0.681, p < 0.01; r = 0.634, p < 0.01; respectively). MVD, steepest slope of the enhancement curve, E(max/1), and Emax strongly correlated with histologic grade (r = 0.475, p < 0.05; r = 0.683, p < 0.01; r = 0.687, p < 0.01; r = 0.791, p < 0.01; respectively). There was a significant difference between groups of patients with and without metastasis with regard to histologic grade (p < 0.05) and two of the DCE-MRI parameters (p < 0.005 for E(max/1) and p < 0.05 for time to peak enhancement). Discriminant analysis correctly predicted the metastatic occurrence at 2 years in 90.5% of cases using E(max/1) (p < 0.001). Histologic grade resulted in lower rates of discrimination (66.7%; p < 0.05). DCE-MRI parameters may help in the prediction of MVD and histologic grade in CRC and may be used to predict therapeutic outcome.

Peutz-Jeghers syndrome combined with breast cancer, cervical carcinoma and ovarian gonadoblastoma: a case report.

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant condition characterized by gastrointestinal polyps, mucocutaneous pigmentation and an increased risk for cancer. In this report, a 34-year-old woman with PJS associated with a rare ovarian tumor (gonadoblastoma) and synchronous breast and cervical carcinoma is discussed and the relevant literature is reviewed.

Asymptomatic choroid plexus cysts in the lateral ventricles: an incidental finding on diffusion-weighted MRI.

We assessed the role of diffusion-weighted imaging (DWI) in the detection of choroid plexus cysts. We reviewed more than 1000 patients who had undergone MRI in a 1-year period. We reviewed echo-planar DWI with b=1000 s/mm(2), acquired at 1.0 tesla, for any difference in signal intensity which might indicate choroid plexus cysts. On conventional images, all cystic lesions were isointense with cerebrospinal fluid, and 72 cysts could not be identified. On DWI, 90 rounded high-signal foci were detected in 58 patients; 64 cysts were bilateral. Focal ventricular expansion due to large cysts was observed in nine cases. DWI were found to show choroid plexus cysts undetected within the cerebrospinal fluid on conventional images.