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In this study, we planned to investigate frequency of the JAK2 V617F mutation and it's relation with clinical and laboratory findings of BCR-ABL negative myeloproliferative diseases (MPD) which consist of polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF). Totally 65 patients were included in the study which composed of 28 (43.1 %) PV, 29 (44 %) ET and 8 (12.3 %) IMF patients. Forty one (63%) patients were female and 24 (37%) were male. Mean age of patients was 64.02±12.42. Frequency of the JAK2V617F mutation was found in 25 (89.3%) of PV, 18 (62.1%) of ET and 2 (25%) of IMF patients. We found no difference in gender and frequency of thrombosis, constitutional symptoms, pruritus, hemorrhage, splenomegaly, bone marrow fibrosis, cytoreductive treatment requirement, arterial/venous thrombosis between JAK2 V617F mutated and unmutated PV and ET and IMF patients. When compared homozygous and heterozygous JAK2 V617F mutated PV and ET patients according to these variables, there was no significant difference. There were no statistically significant difference in Hemoglobin (Hb), hematocrit (HCT), leukocyte, lactate dehidrogenase (LDH), EPO and ferritin levels between JAK2 V617F mutated and unmutated PV and ET patients. HCT levels and leukocyte counts were significantly higher in JAK2 V617F mutated than unmutated IMF patients (p=0.046, p=0.046). Other variables were not found different. Comprehensive prospective studies are necessary for determining the relationship of the JAK2 V617F mutation with clinical and laboratory findings . [ABSTRACT FROM AUTHOR]

Objective: To examine whether there is an association of eotaxin-1 gene polymorphisms with nasal polyposis (NP)., Study Design: Cross-sectional study., Setting: Tertiary referral center., Subjects and Methods: The study group included 85 patients with NP and 93 controls without sinonasal disease. Genotypes of eotaxin-1 (-384 A>G and +67 G>A) were identified by restriction fragment length polymorphism analyses after polymerase chain reaction., Results: The -384 A>G and +67 G>A single nucleotide polymorphisms were higher in patients with NP than in controls (P = .044 and P = .019, respectively). However, their relation was statistically poor (association coefficient = 0.18). Consistent with this result, comparisons of allele frequencies for both single nucleotide polymorphisms were not significantly different (-384 A>G, P = .164; +67 G>A, P = .144)., Conclusion: In this study, eotaxin-1 -384 A>G or 67 G>A genotypes were not associated with susceptibility to NP.

Aim: Meningiomas arise from the meningoendothelial cells and are one of the most common tumors of the central nervous system. The HER-2/neu gene is located on the 17q11.2-q12 chromosome region and encodes an epidermal growth factor receptor. HER- 2/neu gene amplification and/or over expression have been studied most widely in breast carcinomas. Previous studies have shown the importance of HER-2/neu gene amplification on the prognosis of meningioma cases. In this study, we aimed to detect HER-2/neu gene copy number in archive materials of 55 meningioma patients by fluorescent in situ hybridization (FISH)., Material and Methods: The patients included in the study had undergone surgery in the neurosurgery department of our hospital between 1999 and 2002. Tissue samples were classified histologically according to WHO 2007 guidelines. Interphase FISH was performed on 3 to 4microm thick paraffin embedded tissue sections for the detection of HER- 2/neu gene amplification status., Results: We found HER-2/neu gene amplification in 7 (12.73%) patients. Another 2 patients had only one signal for the HER-2/neu region. We confirmed this finding by a second hybridization with the chromosome 17p13.1 (p53) probe., Conclusion: According to our results, HER-2/neu amplification could be regarded as an additional genetic factor playing role in meningioma pathogenesis together with known chromosomal abnormalities.

Objective: To investigate the association between nasal polyposis (NP) and single nucleotide polymorphisms of the proinflammatory cytokines IL (interleukin) 1alpha (the IL1A gene), IL-1beta (the IL1B gene), and tumor necrosis factor alpha (the TNFA gene)., Design: Prospective case-control trial., Setting: Tertiary referral center., Patients: Eighty-two patients with NP and 106 healthy volunteers without sinonasal disease., Main Outcome Measures: Genotypes of IL1A (4845G, 4845T), IL1B (-511C, -511T) and TNFA (-238G, -238A and -308G, -308A) were identified by restriction fragment length polymorphism analyses after polymerase chain reaction., Results: The 4845 GT and 4845 TT genotypes of the IL1A gene were associated with NP (P<.05). The frequency of the -511 CC genotype of the IL1B gene was significantly higher in patients with NP than in controls (P=.01). The frequency of the -511 CT genotype of IL1B was significantly higher (P=.01) in the controls than in the patients with NP. The -238 AA genotype of the TNFA gene was higher in the patients with NP than in the controls (P=.05). There was a significantly high risk of susceptibility to NP in patients with the -308 GA genotype of TNFA (P=.001). None of the genotypes of the proinflammatory cytokines were related to sex, the presence of atopy, asthma, or aspirin intolerance (P>.05)., Conclusion: The IL1A (4845 GT and 4845 TT), IL1B (-511 CC), and TNFA (-238 AA and -308 GA) genotypes were associated with susceptibility to NP in our study population.

Objective: A 27-year-old woman was referred to our laboratory for genetic counseling at 26 weeks of gestation due to abnormal ultrasound findings including intrauterine growth retardation, Dandy-Walker malformation and lower extremity anomalies., Methods: Chromosome analysis was performed on fetal blood sample obtained by cardiocentesis., Result: We observed an abnormal karyotype with a structural abnormality of the long arm of chromosome 7. Both parents' chromosomes were normal; thus, the fetal karyotype designation was 46,XX, del(7)(pter-->q11::q31-->qter) de novo. Skin biopsy sample was taken to confirm the karyotype after therapeutic abortion was performed. The result was identical. Postmortem examination and autopsy showed facial dysmorphism, malformations of the lower extremities and central nervous system anomalies., Conclusion: 7q interstitial deletions cause a wide spectrum of congenital abnormalities and syndromes linked to the deleted segments. Our case had a rather wide chromosome region deleted and it is important, because prenatal diagnosis was performed. Thus, the family had the chance to evaluate the situation and decided to terminate the pregnancy after genetic counseling., (Copyright (c) 2005 S. Karger AG, Basel.)