Diffüz büyük B-hücreli lenfomanın farklı immünofenotipik profillerinde apoptozis, proliferasyon durumu ve O6 metilguanin DNA metiltransferaz metilasyon profillerinin tespiti

Objective: Our aim was to investigate the expression of apoptosis-associated proteins (bcl-2, bcl-xl, bax, bak, bid), apoptotic index (AI) and proliferation index (PI) in germinal center B-cell-like immunophenotypic profile (GCB) and non-GCB of diffuse large B-cell lymphoma (DLBCL). Materials and Methods: The methylation status of the promoter region of O6-methylguanine-DNA yerine O6-methylguanine-DNA methyltransferase (MGMT) gene and its relation with immunophenotypic differentiation of DLBCLs were also investigated. 101 cases were classified as GCB (29 cases) or non-GCB (72 cases). Apoptosis-associated proteins and PI were determined by IHC, and TUNEL method was used to determine AI. MGMT methylation analysis was performed by real-time PCR. Results: The PI was significantly higher in GCB compared with non-GCB (p=0.011). Percentage of cells stained with bcl-6 was positively correlated with the percentage of cells expressing bcl-2 (p=0.023), AI (p=0.006) and PI (p<0.001), while a significant negative correlation was observed with the percentage of cells expressing bax (p=0.027). The percentage of cells stained with MUM1 showed a significantly positive correlation with the percentage of cells expressing bcl-xl (p=0.003), bid (p=0.002), AI (p<0.001), and PI (p=0.001). MGMT methylation analysis was performed in 95 samples, and methylated profile was found in 31 cases (32.6%). GCB was found in 6 cases (22.2%) and non-GCB was determined in 25 cases (36.8%) out of 31 with MGMT methylated samples. There was no significant association between MGMT methylation status and immunophenotypic profiles (p=0.173). Conclusion: These results suggest that bcl-6 protein expression may be responsible for the high PI in GCB. Additionally, we found that apoptosis-associated proteins were not significantly associated with immunophenotypic profiles

Laurence-Moon-Biedl syndrome with vaginal atresia.

A 15-year-old girl presented with the rare Laurence-Moon-Biedl syndrome, accompanied by vaginal atresia, and cervical dysgenesis. She was treated by hysterectomy and construction of a neovagina with bilateral pudendal thigh flaps. Two brothers and a sister (one of twins) were unaffected but the remaining brother also had the disease

Familial Pericentric Inversion: Inv(4)(p16q12)

Generally pericentric inversions do not produce clinical abnormality. The medical significance lies with the increased risk of generating unbalanced gametes. In our study we present two familial pericentric inversion cases with consecutive first trimester pregnancy losses and congenital malformations. The relationship between pericentric inversion carriage and consecutive abortions, and the importance of genetic counseling are discussed by the help of these two cases

Determination of apoptosis, proliferation status and O6-methylguanine DNA methyltransferase methylation profiles in different immunophenotypic profiles of diffuse large B-cell lymphoma [Diffüz büyük B-hücreli lenfomani{dotless}n farkli{dotless} immünofenotipik profillerinde apoptozis, proliferasyon durumu ve O6-metilguanin DNA metiltransferaz metilasyon profillerinin tespiti]

Objective: Our aim was to investigate the expression of apoptosis-associated proteins (bcl-2, bcl-xl, bax, bak, bid), apoptotic index (AI) and proliferation index (PI) in germinal center B-cell-like immunophenotypic profile (GCB) and non-GCB of diffuse large B-cell lymphoma (DLBCL). Materials and Methods: The methylation status of the promoter region of O6-methylguanine-DNA yerine O6-methylguanine-DNA methyltransferase (MGMT) gene and its relation with immunophenotypic differentiation of DLBCLs were also investigated. 101 cases were classified as GCB (29 cases) or non-GCB (72 cases). Apoptosis-associated proteins and PI were determined by IHC, and TUNEL method was used to determine AI. MGMT methylation analysis was performed by real-time PCR. Results: The PI was significantly higher in GCB compared with non-GCB (p=0.011). Percentage of cells stained with bcl-6 was positively correlated with the percentage of cells expressing bcl-2 (p=0.023), AI (p=0.006) and PI (p<0.001), while a significant negative correlation was observed with the percentage of cells expressing bax (p=0.027). The percentage of cells stained with MUM1 showed a significantly positive correlation with the percentage of cells expressing bcl-xl (p=0.003), bid (p=0.002), AI (p<0.001), and PI (p=0.001). MGMT methylation analysis was performed in 95 samples, and methylated profile was found in 31 cases (32.6%). GCB was found in 6 cases (22.2%) and non-GCB was determined in 25 cases (36.8%) out of 31 with MGMT methylated samples. There was no significant association between MGMT methylation status and immunophenotypic profiles (p=0.173). Conclusion: These results suggest that bcl-6 protein expression may be responsible for the high PI in GCB. Additionally, we found that apoptosis-associated proteins were not significantly associated with immunophenotypic profiles

Immunohistochemical expression of beta-catenin, E-cadherin, cyclin D1 and c-myc in benign trichogenic tumors.

BACKGROUND: beta-catenin gene mutations have been reported in vast majority of pilomatrixomas (PMXs). beta-catenin, a component of the adhesion molecules of the cytoskeleton, is degraded at the cytoplasm. Excess cytoplasmic beta-catenin enters into the nucleus and activates the transcription of several genes encoding c-myc, cyclin D1 and others. Sublocation of beta-catenin has been demonstrated by immunohistochemistry. The aim of this study was to determine the role of beta-catenin-related proteins in various benign trichogenic tumors. METHODS: We investigated the expression of beta-catenin, E-cadherin, c-myc and cyclin D1 immunohistochemically, and the expression of these molecules were compared between two groups consisting of 12 PMXs and 12 other benign trichogenic tumors (OBTTs). RESULTS: In PMX group, nuclear and/or cytoplasmic expression of beta-catenin was associated with a loss of membranous expression of E-cadherin (p = 0.002). In OBTT group, a membranous expression of E-cadherin and beta-catenin was observed, and there was a stronger nuclear immunoreactivity of cyclin D1 compared with PMX group (p = 0.006). CONCLUSIONS: In PMX, nuclear and/or cytoplasmic beta-catenin expression of tumoral cells is not related with beta-catenin-related gene expressions (c-myc or cyclin D1). The molecular behaviour of OBTTs is clearly different from that of PMXs in terms of to E-cadherin and beta-catenin expression

Cytogenetic studies in patients with reproductive failure.

BACKGROUND: Cytogenetic studies in patients with reproductive failure AIM: To investigate the contribution of chromosomal abnormalities in sub fertility and in couples with repeated abortions. METHODS: Hundred and 13 couples who had at least two or more spontaneous abortions and 65 women and 63 men with infertility were analyzed cytogenetically. RESULTS: Major chromosomal rearrangements were found in 8% and minor variants in 6% in the study population. Major chromosomal aberrations were judged to explain 4.9% of recurrent abortions and 13% of infertility. Chromosomal abnormalities in infertile men occurred in 5% and in infertile women in 21.5%. The chromosomal abnormalities were structural (57%), numerical (18%) or mosaics (25%). CONCLUSIONS: Chromosomal aberrations in recurrent abortions are mostly structural ones and those in female infertility mosaicism of sex chromosomes. Turner's syndrome, Turner variants and XY females are detected as a cause of female infertility. The structural and numerical aberrations of either sex or autosomal chromosomes were found in infertile men

Ovarian agenesis and MURCS association

The MURCS (MUllerian duct aplasia, Renal aplasia, Cervicothoracic Somite dysplasia) association is a rare and sporadic disease. The etiology is unknown. We present a patient with short stature, absence of uterus, tubes, left ovary, left renal agenesis, servical block vertebra

[Family history, clinical features, and molecular characterization of a patient with autosomal recessive non-syndromic hearing loss].

Autosomal recessive non-syndromic hearing loss is the most common form of inherited childhood deafness. Identification of the responsible gene in this type of hearing loss presents difficulties because of marked genetic heterogenicity and limited clinical presentation. A two-year-old girl was referred to our clinic because of congenital hearing loss. Family history showed that her brother and six relatives of her parents were also affected by unilateral or bilateral hearing loss. There was no consanguinity between the parents, though they were from close villages. Audiometric studies revealed severe bilateral sensorineural hearing loss. Molecular analysis of the index patient documented that autosomal recessive non-syndromic hearing loss resulted from the homozygous 35delG mutation in the connexin 26 gene

Gallium-67 citrate scintigraphy and marginal zone lymphoma of the mucosa-associated lymphoid tissue. Ocular MALT.

We describe marginal zone lymphoma of the mucosa-associated lymphoid tissue (MALT) and especially MALT lymphoma occurring in the conjunctiva. Tumors of the conjunctiva and cornea are grouped into two major categories of congenital and acquired lesions. Lymphoid tumors of the conjunctiva are acquired tumors and can occur as an isolated lesion or can be a manifestation of systemic lymphoma. Primary lymphomas of the conjunctiva are extremely rare usually originate from extranodal marginal zone B-cell non-Hodgkin's lymphomas of MALT and occur among older adults with a mean age of 61 years. In the last decade it has been reported that MALT lymphomas may develop in various extraintestinal locations, sometimes even without the presence of a mucosa. Half of MALT lymphomas occur in the gastrointestinal tract. MALT lymphomas of the eye are rare and originate from the conjunctiva and the lacrimal glands. Studies evaluating the clinical impact of 67Ga-C scintigraphy for MALT-type lymphomas imaging are rare, based on small numbers, heterogenous groups of patients. Clinical examination, excisional biopsy, histopathology and immunohistochemical studies, computerized tomography and magnetic resonance imaging are also used for the diagnosis of cunjunctival MALT disease. A case of ours gives reason for further discussion. Treatment and follow-up of MALT lymphoma is described