Blastoid variant mantle cell lymphoma with complex karyotype including 11q duplication.

We describe a case of blastoid mantle cell lymphoma with a complex karyotype. The blastoid variant is a rare type of non-Hodgkin lymphoma exhibiting an aggressive clinical course. Mantle cell lymphoma is a distinct entity of mature B-cell neoplasms genetically characterized by the presence of t(11;14). In the present case, conventional analysis revealed structural abnormalities of chromosomes 2, 4, 6, 10, 13, and 19, along with 3 additional marker chromosomes. The derivative 1 chromosome determined in the case was a result of t(1p;11q). Our interesting finding was the presence of a different translocation between 11q and chromosome 1 in addition to t(11;14). Thus, the resulting 11q duplication was believed to additionally increase the enhanced expression of cyclin D1 gene, which is responsible in the pathogenesis of the disease. Fluorescence in situ hybridization method by the t(11;14) probe revealed clonal numerical abnormalities of chromosomes 11 and 14 in some cells. The detection of multiple abnormalities explains the bad prognosis in the present case. On the basis of our findings, we can easily conclude that results of cytogenetic analyses of similar mantle cell lymphoma patients would provide clues about new responsible gene regions and disease prognosis. In conclusion, it has been suggested that the presence of multiple chromosomal aberrations in addition to the specific t(11;14) may have a negative impact on clinical course and survival rate.

Influence of recasting different types of dental alloys on gingival fibroblast cytotoxicity.

STATEMENT OF PROBLEM: Surplus alloy from the initial casting is commonly reused with the addition of new alloy. This recasting procedure could affect the cytotoxicity of dental alloys. PURPOSE: The purpose of this in vitro study was to evaluate the effect of repeated casting of high-noble and base metal alloys on gingival fibroblast cytotoxicity. MATERIAL AND METHODS: Disk-shaped specimens (5 × 2 mm, n=60) of a high-noble (Au-Pt) and 2 base metal (Ni-Cr and Cr-Co, n=20) alloys were prepared with 100% new alloy and 50%, 65%, and 100% once recast alloy. The elemental composition of specimens was analyzed with X-ray energy-dispersive spectroscopy. Five specimens from each group were conditioned in saline with 3% fetal bovine serum albumin. The conditioning media were analyzed for elemental release with atomic absorption spectroscopy. Cytotoxic effects were assessed on human gingival fibroblast with a 3-(4.5-dimethylthiazol-2-yl)-2.5-diphenyl tetrazolium bromide (MTT) colorimetric assay. The data were analyzed with 1-way and 2-way ANOVA and Tukey's HSD multiple comparison test (α-=.05). RESULTS: Elemental compositions of Co-Cr and Au-Pt alloys were significantly different among casting protocols. Elemental release of Co-Cr and Ni-Cr alloys was significantly different between new and recast specimens (P<.001). Nickel release increased with recast alloy addition. The 2-way ANOVA showed a significant effect of the casting procedure (P<.001) alloy group (P<.001) and their interaction for cytotoxicity (P<.001). The Ni-Cr alloy groups with 65% and 100% recast alloy had lower cellular activity than all other specimens (P<.001). CONCLUSIONS: The results of this study indicated that alloys containing nickel have increased cytotoxic effects and that composition of the alloys affected the cytotoxicity. Furthermore, recasting nickel-containing alloys with 65% surplus metal addition significantly increased the cytotoxic activity.

Successful pregnancy with preimplantation genetic diagnosis in a woman with mosaic Turner syndrome.

OBJECTIVE: To determine the efficacy of the preimplantation cytogenetic analysis of the embryos obtained from patient with mosaic Turner syndrome before an IVF program. DESIGN: Prospective cytogenetic analysis. SETTING: University-based tertiary medical center. PATIENT(S): A 29 year-old female, a partner in a couple with male factor infertility, was diagnosed with mosaic Turner syndrome with a 45,X [17]/46,XX [13] karyotype. INTERVENTION(S): Preimplantation genetic diagnosis was performed on four blastomeres obtained from four different embryos by fluorescence in situ hybridization probes specific to chromosomes X, Y, 13, 18, 21 in an intracytoplasmic sperm injection cycle. MAIN OUTCOME MEASURE(S): Blastomeres with normal signals. RESULT(S): Two blastomeres detected as normal were transferred and pregnancy was achieved. CONCLUSION(S): Preimplantation Genetic Diagnose should be considered in the infertility treatment of the patient with mosaic Turner Syndrome.

Viability of crushed human auricular and costal cartilage chondrocytes in cell culture.

The amount or quality of available septal cartilage may be inadequate for grafting in some rhinoplasty patients. In such cases, auricular or costal cartilage may provide an additional source of cartilage. Crushed septal cartilage has been shown to be useful for dorsal onlay grafts. We aimed to investigate the effect of different degrees of crushing on the viability of human auricular and costal cartilage. Ten auricular and 10 costal cartilage grafts were obtained from 20 patients during secondary rhinoplasty. Each graft was sectioned into five pieces. One of the pieces was left intact and the remaining four were prepared as slightly, moderately, significantly, and severely crushed. Viability and proliferation rates of chondrocytes in cell cultures were evaluated. Mean viability rates on day 1 for intact, slightly crushed, moderately crushed, significantly crushed, and severely crushed auricular cartilages were 70%, 67%, 65%, 58%, and 45%; while those for costal cartilages were 65%, 63%, 59%, 55%, and 53%, respectively. There was no statistically significant difference between the viability rates of the similarly crushed auricular and costal cartilage groups on days 1, 2, 3 and 10. The viability of crushed human auricular and costal cartilage grafts depends on the degree of crushing applied.

Fluorescence in situ hybridization analysis of the hTERC region in acute myeloid leukemia patients.

OBJECTIVE: The telomerase RNA component (hTERC) gene is located at 3q26. Increased hTERC gene expression has been frequently observed and amplification was shown using fluorescence in situ hybridization (FISH) in different cancers. The aim of this study was to determine whether hTERC gene amplification is detectable by FISH in acute myeloid leukemia (AML) cells. METHODS: FISH and karyotype results at the time of diagnosis of 23 adult AML patients were retrospectively evaluated. Additionally, fixed cells were hybridized with an hTERC region-specific FISH probe to determine gene amplification. RESULTS: Ten of the 23 patients had a normal karyotype and 6 had an abnormal karyotype. hTERC region amplification was not observed in any of the patients. CONCLUSION: Although it was reported that hTERC gene amplification may partially contribute to increased telomerase expression and activity in leukemic cells, it is not possible to make such a conclusion based on the results of the this study, as hTERC amplification was not observed in the study group. This suggests that increased telomerase activity via gene amplification in the development of AML may not be as important a factor as it is in solid tumors.

First-trimester ultrasonography revealed a gestational sac featuring cystic spaces and no visible embryo: a case of trisomy 7.

Ultrasound examination in early pregnancy has steadily gained importance and is now routine for most women in the first trimester. The sonographic features of early trisomy 7 pregnancies are not well characterized. We present a case of trisomy 7 in which early pregnancy ultrasound revealed a gestational sac featuring cystic spaces and no visible embryo. Based on comparison with a previously reported case of trisomy 7 featuring a multicystic anembryonic gestational sac we suggest that this ultrasonographic finding may be a sign of trisomy 7.

Complex cytogenetic findings in the bone marrow of a chronic idiopathic myelofibrosis patient.

Chronic idiopathic myelofibrosis is a myeloproliferative disorder characterized by splenomegaly, myeloid metaplasia and reactive bone marrow fibrosis. Karyotype analysis of the bone marrow is an integral part of the diagnosis, especially as a discriminative tool in ruling out reactive conditions. The frequency of clonal cytogenetic anomalies in this disease is the highest among its group, varying between 30 and 75%. Among these, trisomy 1q, 20q-, 13q- and +8 are the most common aberrations. Here we report a 66-year-old male patient whose bone marrow biopsy revealed signs of chronic myeloproliferative changes and dysmegakaryopoiesis. He was administered hydroxyurea treatment, splenic radiotherapy and multiple transfusions. The patient worsened in the following months and the second bone marrow biopsy revealed myelofibrosis. Cytogenetic analysis of this bone marrow sample revealed a complex karyotype reported to be 46,XY,del(9)(q22q34),t(8;17;21)(q22;q21;q22)[23]/46,XY[2], with a previously undefined three-way translocation and deletion in chromosome 9. The patient died shortly thereafter.

49,XXXXY syndrome with autoimmune diabetes and ocular manifestations.

OBJECTIVE: We report a rare case of 49,XXXXY syndrome with autoimmune diabetes (requiring insulin therapy), bilateral cataracts and unilateral glaucoma. CLINICAL PRESENTATION AND INTERVENTION: A 25-year-old man with mental retardation presented with multiple skeletal abnormalities, polyuria and polydipsia. He had high glucose concentrations, without ketonuria, and hypergonadotropic hypogonadism. Ophthalmic examination revealed a polar cataract in both eyes and increased intraocular pressure in the left eye. The anti-islet cell antibody test was positive, and anti-glutamic acid decarboxylase autoantibody levels were elevated. Karyotype analysis revealed 49,XXXXY. Intensive insulin therapy and testosterone replacements were started. CONCLUSION: The autoimmune nature of diabetes that we observed in our patient seems to be predisposed by hypogonadism. Cataract and glaucoma in this case seem to be the result of diabetes, and an association of these ocular manifestations with the syndrome 49,XXXXY seems unlikely.

Her-2/neu gene amplification in paraffin-embedded tissue sections of meningioma patients.

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.

Multiple chromosome abnormalities in the pleural fluid of a patient with recurrent Ewing sarcoma.

The authors report a 5.5-year-old male patient with a right paraspinal tumor, diagnosed as metastatic Ewing sarcoma. The pleural fluid along with the bone marrow was sent to the authors' laboratory for karyotyping. Bone marrow cultures revealed a normal karyotype, whereas 48, XY, i(1)(q11), +10, t(11;22)(q24;q12) karyotype was found in the cells obtained from the pleural fluid cultures. Trisomy 1q is quite frequently observed in Ewing sarcoma patients, mostly as part of unbalanced translocations, along with the common t(11;22) translocation. This patient's findings were significant, as the complex karyotype in the pleural effusion cells was observed.

Fluorescent in situ hybridization studies in multiple myeloma.

Conventional cytogenetic analysis and fluorescence in situ hybridization (FISH) results of bone marrow samples of 36 multiple myeloma (MM) patients at the time of diagnosis have been evaluated. Three probes for chromosome 13q (RB1, D13S319, D13S25), one for 14q32 (IgH) and one for 17p13 (p53) have been used for hybridization with fixed cells. Twenty patients (55.5%) had normal karyotypes, whereas eight (22.2%) had numerical or structural chromosomal abnormalities. We did not find metaphases for chromosome analysis in eight (22.2%) patients. Fluorescence in situ hybridization analyses revealed at least one or more abnormal results in 25 (69.5%) cases, whereas 11(30.5%) cases had no abnormal findings. 14q32 rearrangement was the most common finding in FISH analyses and has been detected in 21 cases (58.3%). 13q deletion and 17p deletion have been detected in 11 (30.5%) and 5 (13.9%) cases, respectively. Fluorescence in situ hybridization studies including 14q32 and 17p13 chromosome regions may yield quite significant results during clinical follow-up of MM.

Anesthetic management of caesarean section of a pregnant woman with cerebral arteriovenous malformation: a case report.

INTRODUCTION: The choice of anesthetic technique for Caesarean section of a pregnant woman with cerebral arteriovenous malformation (AVM) is made to maintain a stable cardiovascular system, but due to the rarity of this condition, no definitive guidelines exist. CASE PRESENTATION: We report the case of anesthetic management of Caesarean section of a pregnant woman with cerebral AVM (grade V). After the diagnosis, the radiologists decided to perform angiography and endovascular operation for treatment after the termination of pregnancy. The patient refused to undergo this procedure and with the beginning of the contractions of uterus, she was admitted to hospital urgently at the 40th week of gestational age and Caesarean section under general anesthesia was performed successfully. CONCLUSION: We concluded that in case of emergency, general anesthesia can be used satisfactorily for Caesarean section of a pregnant woman with cerebral AVM. Ensuring optimal maternal and fetal well-being, we are of the opinion that it is also possible to control the arterial blood pressure of patients with general anesthesia.

Chromosome heteromorphisms: an impact on infertility.

INTRODUCTION: Cytogenetic heteromorphisms are described as heritable variations at specific chromosomal regions without a proven impact on phenotype. MATERIALS AND METHODS: We compared the presence of chromosome heteromorphisms in the karyotypes of two patient groups. The first group of patients consisted of 276 individuals of 138 infertile couples. The second group, consisted of 1,130 amniocentesis samples. This group was considered to be a sample of the fertile population, as the fetus being karyotyped is the result of a spontaneous pregnancy. Fetal karyotyping was made due to the standard indications for prenatal diagnosis, such as abnormal maternal serum screening results. RESULTS AND DISCUSSION: Eighteen infertile patients (6.52%) and twenty fetuses (1.77%) were found to have chromosome heteromorphisms. The difference between the two groups was statistically significant (p < 0.0001). CONCLUSION: These results are consistent with other similar studies that suggest the yet undefined relationship between chromosome heteromorphisms and infertility.

Determination of HER-2/Neu status in hepatocellular carcinoma cases.

Specific chromosome abnormalities and genetic changes in hepatocellular carcinoma (HCC) have been demonstrated by conventional cytogenetic studies or molecular cytogenetic approaches like comparative genomic hybridization and loss of heterozygosity analyses. HER-2/Neu amplification and expression has been studied as a molecular target for treatment of HCC, and there are conflicting results. We aimed to determine HER-2/Neu status in archive materials of HCC patients by fluorescence in situ hybridization (FISH). Among the 35 patients, 2 had HER-2/Neu amplification and 3 had increased chromosome 17 copy number. All these patients had grade 2 or 3 tumor with a diameter of 3-12 cm. We conclude that although HER-2/Neu amplification is not the primary mechanism in the development of liver tumors, it might play a role in one of the steps of multistage carcinogenesis.

Comparison of the results of PCR-RFLP and reverse hybridization methods used in molecular diagnosis of FMF.

Familial Mediterranean fever (FMF) is characterized by recurrent fever, serositis, and arthritis. Due to the abundance of mutations and clinical heterogeneity of the disease, different screening methods have been developed. In this study, we aimed to compare our findings of mutations determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) with reverse hybridization (RH) methods. In 152 of 263 patients (57.79%) different mutations were determined with RH. Allelic frequencies were E148Q 6.84%, M680I(G/C) 3.61%, M694V 20.91%, V726A 7.03%, P369S 1.33%, F479L 0.19%, M680I(G/A) 0.76%, M694I 0.57%, K695R 0.57%, A744S 0.38%, R731H 0.38%, and del1692 0%. Frequent mutations were also confirmed by PCR-RFLP. There were no conflicting results between the two methods. Four of these genotypes were homozygous for a single mutation, 15 were heterozygous for two mutations, 8 were heterozygous for a single mutation, 1 was heterozygous for three mutations, and 1 was homozygous for one mutation and heterozygous for another mutation. It has been reported that analytical sensitivity of RH is 97%. We did not find a discrepancy between the two methods. In 21 patients, we detected additional mutations with RH. This finding was regarded as an advantage of RH, and we concluded that this assay is a useful method for detection of first stage FMF mutation screening.

Long-term colchicine therapy in a patient with Behçet's disease and acute promyelocytic leukemia.

Behçet's disease causes a continuous T-lymphocytic mediated inflammatory reaction in the small arterioles, which results in gradual destruction of any human organ or system. The benefit of treatment with colchicine in patients with Behçet's disease has been reported in literature. Acute leukemia has seldom been associated with Behçet's disease, although acute promyelocytic leukemia is a particular subtype of leukemia that is often characterized by special cytogenetic abnormalities. We report a male patient with acute promyelocytic leukemia and Behçet's disease who had received long-term treatment with colchicine. To our knowledge, this is the first report of the concomitant occurrence of acute promyelocytic leukemia and Behçet's disease, which suggests that long-term colchicine therapy has a role in the pathogenesis of acute promyelocytic leukemia. The patient described has been treated with retinoic acid and idarubicin (the ATRA-IDA protocol). At the time of this writing, his disease is in clinical remission.

Clinical findings and HER-2/neu gene amplification status of breast carcinoma patients.

The study group was derived from the archival materials of 48 invasive intraductal breast cancer patients who had undergone partial mastectomy/ axillary dissection. All patients included in the study had clinically T1-2N0M0 invasive ductal carcinoma. To detect HER-2/neu status, fluorescent in situ hybridization was performed using a HER-2/neu locus-specific probe. Signals were counted and patients were classified in three groups according to signal ratios: signal ratio <2, group 1 (n=31); signal ratio 2-4, group 2 (n=11); signal ratio >4, group 3 (n=6). Ratios of axillary metastatic lymph nodes to dissected total lymph nodes were 17%, 23% and 83% in groups 1, 2 and 3 respectively (P=0.003). The number of metastatic axillary lymph nodes, and the ratio of microscopic metastatic lymph nodes were highest in group 3 (P=0.001 and P=0.008, respectively). No significant difference was observed between groups for distant metastasis in a 5-year follow-up period. Signal ratios decreased with estrogen receptor expression (P=0.03). Histopathologically, an irregular growth pattern of the tumor was observed in 100% of the patients in group 3, and in 54% and 60% in groups 1 and 2, respectively (P=0.04). Lymphovascular invasion of the tumor was significantly higher in group 3 compared to the other two groups (P=0.01). The extensive intraductal component ratio was the highest in group 3 (P=0.04). The appearance of desmoplastic reaction and lymphocyte infiltration did not show significant difference between the groups. Our results show that HER-2/neu signal ratio increases with lymphovascular invasion, an extensive intraductal component, irregular growth pattern and axillary metastasis in clinically T1-2N0M0 invasive ductal carcinoma of the breast.