Biomedical subjects

Sotirios A Raptis

Publications and source records attributed to Sotirios A Raptis.

At least 19 recordsLinked to original sources

PubMed2006

Insulin action in adipose tissue and muscle in hypothyroidism.

BACKGROUND: Although insulin resistance in thyroid hormone excess is well documented, information on insulin action in hypothyroidism is limited. METHODS: To investigate this, a meal was given to 11 hypothyroid (HO; aged 45 +/- 3 yr) and 10 euthyroid subjects (EU; aged 42 +/- 4 yr). Blood was withdrawn for 360 min from veins (V) draining the anterior abdominal sc adipose tissue and the forearm and from the radial artery (A). Blood flow (BF) in adipose tissue was measured with 133Xe and in forearm with strain-gauge plethysmography. Tissue glucose uptake was calculated as (A-V)glucose(BF), lipoprotein lipase as (A-V)Triglycerides(BF), and lipolysis as [(V-A)glycerol(BF)]-lipoprotein lipase. RESULTS: The HO group had higher glucose and insulin levels than the EU group (P < 0.05). In HO vs. EU after meal ingestion (area under curve 0-360 min): 1) BF (1290 +/- 79 vs. 1579 +/- 106 ml per 100 ml tissue in forearm and 706 +/- 105 vs. 1340 +/- 144 ml per 100 ml tissue in adipose tissue) and glucose uptake (464 +/- 74 vs. 850 +/- 155 micromol per 100 ml tissue in forearm and 208 +/- 42 vs. 406 +/- 47 micromol per 100 ml tissue in adipose tissue) were decreased (P < 0.05), but fractional glucose uptake was similar (28 +/- 6 vs. 33 +/- 6% per minute in forearm and 17 +/- 4 vs. 14 +/- 3% per minute in adipose tissue); 2) suppression of lipolysis by insulin was similar; and 3) plasma triglycerides were elevated (489 +/- 91 vs. 264 +/- 36 nmol/liter.min, P < 0.05), whereas adipose tissue lipoprotein lipase (42 +/- 11 vs. 80 +/- 21 micromol per 100 ml tissue) and triglyceride clearance (45 +/- 10 vs. 109 +/- 21 ml per 100 ml tissue) were decreased in HO (P < 0.05). CONCLUSIONS: In hypothyroidism: 1) glucose uptake in muscle and adipose tissue is resistant to insulin; 2) suppression of lipolysis by insulin is not impaired; and 3) hypertriglyceridemia is due to decreased clearance by the adipose tissue.

Adipose Tissue↗

PubMed2006

Insulin resistance and blood pressure circadian variation in an obese hypertensive population.

Insulin resistance (IR) is related to arterial hypertension and target organ damage. Hypertensive individuals exhibiting a diminished nocturnal blood pressure (BP) reduction (non-dippers) have an increased incidence of cardiovascular events. The association, however, of IR with BP circadian variation has not been evaluated so far. Therefore, this study examined 226 (116 male and 110 female) overweight and obese subjects (BMI > 27kg/m2) with newly diagnosed essential hypertension who underwent clinical and laboratory evaluation, including an oral glucose tolerance test and ambulatory BP measurement (ABPM). IR was estimated using the homeostasis model assessment (HOMA-IR). The population was grouped according to HOMA-IR values > 2.75 (insulin resistance type) or < 2.75 (insulin sensitive type). Results. No significant differences were observed between dippers (n = 137) and non-dippers (n = 89) with respect to age, gender, BMI, serum cholesterol, triglycerides, LDL-C, and HDL-C levels, nor smoking habits. The proportion of IR subjects among dippers (59.1%) and non-dippers (56.7%) was similar (p = 0.833). Moreover, no significant association was found when the HOMA-IR was examined as a continuous component (p = 0.96). Conclusions. Insulin resistance is not associated with nocturnal blood pressure reduction in obese hypertensives. This may be explained by the notion that insulin secretion does not follow a circadian mode of variation.

Adult↗

PubMed2006

Compound heterozygosity of a frameshift mutation in the coding region and a single base substitution in the promoter of the ACTH receptor gene in a family with isolated glucocorticoid deficiency.

Isolated glucocorticoid deficiency (IGD) is an autosomal recessive syndrome characterized by glucocorticoid insufficiency without mineralocorticoid deficiency. Mutations in the coding region of the ACTH receptor (MC2R) have been reported in several families with IGD. We amplified and sequenced the entire MC2R coding region in a new family with IGD. The proband was found to be heterozygous (paternal allele) for the mutation Gly217fs, which changes the open reading frame of the MC2R protein resulting in a truncated receptor. No other abnormality was found in the MC2R coding region. However, sequencing of the promoter region of the MC2R gene (-1017/44 bp) of the proband revealed a heterozygous T-->C substitution in the maternal allele at -2 bp position from initiation of the transcription start site. This substitution was found in only 6.5% in a healthy unrelated population. Constructs containing this polymorphism consistently showed a significant 15% decrease in promoter activity compared to wild type. In conclusion, we provide evidence that the IGD in this previously unreported family with ACTH resistance appears to be secondary to compound heterozygosity of a coding region and a promoter mutation in the MC2R gene.

Adolescent↗

PubMed2005

Glucose and lipid fluxes in the adipose tissue after meal ingestion in hyperthyroidism.

BACKGROUND: Although insulin resistance is well established in hyperthyroidism, information on the effects of insulin on adipose tissue (AD) is limited. METHODS: To investigate this, a meal was given to 12 hyperthyroid (HR) and 10 euthyroid (EU) subjects. Blood was withdrawn for 360 min from veins draining the anterior abdominal sc AD and from the radial artery. Blood flow was measured with 133Xe. Lipoprotein lipase (LPL) was calculated as triglyceride flux across AD, and AD-lipolysis was calculated as glycerol flux minus LPL. RESULTS: Both groups displayed comparable postprandial glucose levels, with the HR having higher insulin levels than the EU. In AD of HR vs. EU: 1) blood flow was increased [area under curve 0-360 min (milliliters per 100 milliliters of tissue); 1746 +/- 208 vs. 1344 +/- 102, P = 0.001], but glucose uptake was normal [area under curve 0-360 min (micromoles per 100 milliliters of tissue); 501 +/- 114 vs. 368 +/- 48]; 2) fasting rates of lipolysis (nanomoles per minute per 100 milliliters of tissue; 329 +/- 75 vs. 89 +/- 22, P = 0.02) and nonesterified fatty acid (NEFA) release (nanomoles per minute per 100 milliliters of tissue; 841 +/- 146 vs. 316 +/- 97, P = 0.01), and plasma NEFA levels (micromoles per liter; 623 +/- 50 vs. 454 +/- 57, P = 0.03) were increased, but were all rapidly suppressed to levels similar to those in EU after the increase in plasma insulin levels after the meal; and 3) LPL was not stimulated by insulin. CONCLUSIONS: In hyperthyroidism, AD lipolysis and glucose uptake are resistant to insulin. The defect in lipolysis is manifested in the fasting state, whereas postprandially this rate is rapidly suppressed to normal. This may relieve tissues from the burden of NEFAs after the meal, thus facilitating muscle glucose disposal by insulin.

Adipose Tissue↗

PubMed2005

Impaired effect of endothelin-1 on coronary artery stiffness in type 2 diabetes.

AIM: We examined whether there is a differential effect of endothelin-A antagonism on coronary artery compliance in type 2 diabetes mellitus compared to non-diabetic patients. PATIENT AND METHODS: We examined 32 patients, 11 type 2 diabetes mellitus and 21 non-diabetic patients, with atherosclerotic epicardial arteries free of significant luminal stenoses. Intracoronary BQ-123 (6 micromol), an endothelin-A receptor antagonist, was infused over 20 min. The artery lumen area in the proximal arterial segment was measured at end diastole and end systole before and after BQ-123 administration using an intravascular ultrasound catheter. Calculations were made of normalized arterial compliance index, in mm Hg(-1) x 10(3) and of arterial stiffness index beta. RESULTS: Pulse pressure and heart rate did not change after BQ-123. In type 2 diabetes mellitus, normalized compliance index decreased from 1.79+/-1.36 at baseline to 1.29+/-0.82 after BQ-123 administration, whereas in non-diabetic patients it increased from 2.10+/-1.36 to 3.00+/-2.07 (p<0.05 versus baseline) (F=6.39, p=0.02). In type 2 diabetes mellitus, beta index increased from 1.97+/-0.53 to 2.46+/-0.95, whereas in non-diabetic patients it decreased from 1.83+/-0.95 to 1.63+/-0.84 (F=7.80, p=0.009). Big endothelin-1 at baseline was correlated with the baseline beta index (p<0.0001, r=0.68). CONCLUSIONS: Big endothelin-1 is correlated with the coronary artery stiffness. The effect of endogenous endothelin-1 on coronary artery stiffness is impaired in type 2 diabetes mellitus. This may have important therapeutic implications with respect to the introduction of endothelin receptor antagonists as cardiovascular therapeutic agents.

Aged↗

PubMed2005

Perinuclear antineutrophil cytoplasmic antibody myeloperoxidase-positive vasculitis in association with ulcerative colitis.

We describe a patient with ulcerative colitis (UC) who developed small vessel vasculitis. Perinuclear antineutrophil cytoplasmic antibody myeloperoxidase (p-ANCA-MPO) positivity was detected along with a highly elevated titer of anticardiolipin antibodies. A total proctocolectomy was undertaken and the patient, more than 5 years later, remains in very good condition. The possible causative association between the UC, the p-ANCA-MPO-positive small vessel vasculitis, and the anticardiolipin antibodies is discussed.

Antibodies, Anticardiolipin↗

PubMed2005

Diagnostic value of bone remodeling markers in the diagnosis of bone metastases in patients with breast cancer.

Metastatic spread to bone is common in patients with breast cancer and its early detection is required for the better management of these patients. Several biochemical markers of bone remodeling have been recently developed, in order to assess metastatic bone disease with non radiologic methods. The pyridinolin cross-linked amino-terminal telopeptide of type I collagen (NTx) has been measured in serum and urine as a specific marker of bone collagen breakdown, while the bone-isoform of alkaline phosphatase (BAP) has been used to determine bone formation activity. Thirty-three consecutive ambulatory patients with metastatic breast cancer and bone metastases and 31 with extraskeletal metastases only, matched for age and menopausal status, were studied. Serum levels of NTx and BAP were measured by enzyme-linked immunosorbent assays. The diagnostic accuracy of both markers was evaluated by receiver operating characteristic (ROC) analysis. Patients with bone metastases had significantly higher levels of NTx (37.0+/-36.9 nM BCE versus 23.5+/-21.0 nM BCE, P<0.05) and BAP (57.8+/-31.7 U/L versus 36.5+/-28.5 U/L, P<0.01) compared to those without bone metastases. NTx was positively correlated with BAP (R=0.340, P<0.01). The area under the ROC curve was 0.671 for NTx and 0.755 for BAP. Using a cut-off value of 29.7 nM BCE for NTx, specificity and sensitivity were 87.1% and 45.5%, respectively; in the case of BAP, using a cut-off value of 50.6 U/L, the specificity and sensitivity were 90.3% and 54.5%, respectively. In patients not receiving concomitant hormonal treatment, the area under the ROC curve was 0.724 for NTx and 0.822 for BAP; in this subgroup of patients, using a cut-off value of 30.0 nM BCE for NTx, the specificity and sensitivity were 96.2% and 47.1%, respectively, while using a cut-off value of 50.0 U/L for BAP, the corresponding percentages were 92.3% and 70.6%. Although serum NTx and BAP are quite specific, they are not sensitive enough to diagnose bone metastases in patients with advanced breast cancer. Their diagnostic accuracy, however, is considerably enhanced in patients not receiving hormonal therapy.

Aged↗

PubMed2005

Evaluation of glucose transport and its regulation by insulin in human monocytes using flow cytometry.

BACKGROUND: We investigated the effects of insulin on glucose transport in human monocytes using flow cytometry, a method with several advantages over previously used techniques. We hypothesized that monocytes could be used as tools to study insulin action at the cellular level and facilitate the investigation of mechanisms that lead to insulin resistance. METHODS: Blood was withdrawn from 38 healthy subjects. The expression of glucose transporter (GLUT) isoforms in plasma membrane and the rates of glucose transport were determined with and without insulin (10 to 1,000 mU/L). Anti-CD14 phycoerythrin monoclonal antibody was used for monocyte gating. GLUT isoforms were determined after staining cells with specific antisera to GLUT1, GLUT3, and GLUT4. Glucose transport was monitored with 6-[N-(7-nitrobenz-2-oxa-1,3-diazol-4-yl)amino]-6-deoxyglucose (NBDG). RESULTS: Insulin increased the uptake of NBDG (median effective dose 20 mU/L) and the expression of GLUT3 and GLUT4 isoforms in the plasma membrane (median effective doses 20 and 35 mU/L, respectively) but had no effect on GLUT1. Maximal effects were always reached at 100 mU/L of insulin. CONCLUSIONS: Monocytes may be a valid model system to study the effects of insulin on glucose transport. Further, flow cytometry is suitable for this investigation and can be used as an alternative to radiotracer methods.

4-Chloro-7-nitrobenzofurazan↗

PubMed2005

Cell turnover of serrated adenomas.

Serrated adenomas of the colon are characterized by epithelial neoplasia combining the architectural features of hyperplastic polyps and the cytological features of adenomas. Cell turnover, which is related to the malignant potential of these polyps, has not been thoroughly investigated. The aim of this study was to investigate epithelial cell proliferation, apoptosis, and oncoprotein expression in serrated adenomas. Twenty-five hyperplastic polyps, 25 serrated adenomas, and 25 tubulovillous adenomas resected from the colons of 75 patients were studied by immunohistochemical staining using monoclonal antibodies against MIB-1, Bcl-2, Bax, p53, and the TUNEL method for the detection of apoptosis. In serrated adenomas, the proliferation rate was significantly lower than in tubulovillous adenomas in both the lower and the upper parts of the crypts, and higher than that of hyperplastic polyps. Apoptosis was also significantly lower in serrated than in tubulovillous adenomas, but higher than in hyperplastic polyps. p53 oncoprotein expression was significantly greater in both serrated and tubulovillous adenomas than in hyperplastic polyps. bcl-2 protein expression was higher only in tubulovillous adenomas. Bax index was significantly different between tubullovillous and serrated adenomas, but the lowest values were observed in hyperplastic polyps. Serrated adenomas are highly proliferative polyps. They should be considered a biologically different entity from hyperplastic polyps. The intermediate features between serrated adenomas, hyperplastic polyps, and tubulovillous adenomas using the antibodies analysed in this study could have implications for the rate or the mechanism of development of malignancy in this type of polyp.

Adenoma↗

PubMed2005

Expression of leptin receptors in mononuclear cells from myelodysplastic syndromes and acute myeloid leukemias.

Leptin, the adipocyte hormone, and its receptor have been implicated in the differentiation/proliferation of hematopoietic cells. Given that the deregulated expression of a variety of growth factors and/or their receptors has been implicated in the pathogenesis of certain leukemias, we aimed to characterize the potential differences in the expression pattern of the two major leptin receptor transcript variants in peripheral blood mononuclear cells (PBMC) between different hematologic malignancies. Using RT-PCR and Southern blotting, we compared the expression levels of the two major leptin receptors, the longest (OB-R(L)) and the shortest (OB-R(S)) splice variants, in PBMC from patients with myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), healthy individuals and two human hematopoietic cell lines (HL-60 and K562). Expression of the OB-R(S) transcript clearly exceeded that of OB-R(L) in all patients and controls and in the HL-60 cells, but this was reversed in the K562 cell line. However, the expression of the OB-R(L) was significantly lower in MDS compared to controls and tended to be so in AML, while OB-R(S) tended to be higher in MDS and AML patients compared to controls, but this difference was not significant. Serum leptin levels and circulating soluble leptin receptor levels were slightly but not significantly higher in AML and MDS. These alterations in the expression of the leptin receptor isoforms in MDS and AML patients could suggest a potential role of leptin and its signaling in hematopoietic malignancies, which requires further examination.

Adult↗

PubMed2004

Does recombinant human erythropoietin accelerate correction of post-ulcer-bleeding anaemia? A pilot study.

AIM: Anaemia caused by acute upper gastrointestinal bleeding is treated with blood transfusion or iron, but patients usually face a two-month recovery period from post-haemorrhage anaemia. This prospective, randomised, open, pilot study was designed to investigate whether recombinant human erythropoietin (Epoetin) therapy accelerate haematocrit increase in the post-bleeding recovery period. METHODS: We studied hospitalised patients admitted because of acute ulcer bleeding or haemorrhagic gastritis, who had a haematocrit of 27-33% and did not receive blood transfusions. One day after the endoscopic confirmation of cessation of bleeding, they were randomised either to erythropoietin (20 000 IU Epoetin alfa subcutaneously, on days 0, 4 and 6) plus iron (100 mg im, on days 1- 6, (G(1)) or iron only (G(2)). Haematocrit was measured on days 0, 6, 14, 30, 45, and 60, respectively. RESULTS: One patient from G(1) and two from G(2) were lost to follow-up. Therefore, 14 and 13 patients from G(1) and G(2) respectively were analysed. Demographic characteristics, serum iron, ferritin, total iron binding capacity, reticulocytes, and haematocrit were not significantly different at entry to the study. Median reticulocyte counts were significantly different between groups on day six (G(1): 4.0, 3.0-6.4 vs G(2): 3.5, 2.1-4.4%, P=0.03) and median haematocrit on day fourteen [G(1): 35.9, 30.7-41.0 vs G(2): 32.5, 29.5-37.0% (median, range), P=0.04]. CONCLUSION: Erythropoietin administration significantly accelerates correction of anemia after acute ulcer bleeding. The haematocrit gain is equivalent to one unit of transfused blood two weeks after the bleeding episode.

Acute Disease↗

PubMed2004

M-FISH in gastric lymphoma.

The majority of gastric B-cell lymphomas histologically are classified as low grade mucosa-associated lymphoid tissue (MALT lymphoma) and diffuse large B-cell lymphomas (DLBCL). There is evidence that the different histologic types are genetically heterogeneous, evolving through different pathogenetic pathways. Recurrent cytogenetic aberrations have been found in MALT lymphoma, whereas in DLBCL, limited cytogenetic data are available. We report here a DLBCL and a Burkitt-like gastric lymphoma case, cytogenetically studied by G-banding and M-FISH technique. In the first case, gains of chromosome 3, 7, 13, and 18 were found. An additional ring chromosome 1 identified as a clonal abnormality suggested clonal evolution. In the second case, trisomy 8, del(6)(q13), as well as t(8;14), t(1;5), and t(1;7), were observed. To our knowledge, cytogenetic data for gastric Burkitt-like lymphoma have not been reported, and M-FISH has not previously been used in the study of gastric lymphomas.

Aged↗

PubMed2004

Oxaliplatin and irinotecan plus granulocyte-colony stimulating factor as third-line treatment in relapsed or cisplatin-refractory germ-cell tumor patients: a phase II study.

OBJECTIVE: To investigate the efficacy and tolerability of the combination of oxaliplatin and irinotecan in patients with relapsed or cisplatin-refractory germ cell tumors (GCT). PATIENTS AND METHODS: Eighteen patients with relapsed or cisplatin-refractory GCT were treated with oxaliplatin 85 mg/m(2) on days 1 and 15, followed by irinotecan 80 mg/m(2) on days 1, 8 and 15, every four weeks for a maximum of six cycles. RESULTS: All patients were assessable for response and toxicity. Overall, 7 patients (40%) achieved a favorable response (4 complete and 3 partial responses). One of the complete responders relapsed after 2.5 months and despite further treatment with high dose chemotherapy, he died two months later. The remaining 3 patients are continuously disease free for 11+, 14+ and 19+ months. The partial responders subsequently progressed and died after 2, 3 and 4.5 months, respectively. None of the patients with extragonadal mediastinal GCT responded to oxaliplatin and irinotecan chemotherapy. The investigated combination has a good tolerance. Neutropenia related toxicity (grade 3/4, 17%), neutropenic infections and sepsis were not common probably due to prophylactic use of hematopoietic colony stimulating factor (G-CSF). Thrombocytopenia and anemia were not a serious problem. Gastrointestinal side effects, specifically grade 3/4 diarrhea and nausea/vomiting were noted in 22% and 28% of patients, respectively. Oxaliplatin-associated neurotoxicity was rather low; grade 3 peripheral sensory neuropathy was recorded in 11% of patients. CONCLUSION: The combination of oxaliplatin and irinotecan is feasible and associated with significant clinical antitumor activity, mild and manageable toxicity and easy outpatient administration in patients with relapsed or cisplatin-refractory germ cell cancer. This combination seems to offer a possibility for long-term disease-free status (17%), despite the poor prognostic features of the study patient group.

Adolescent↗

PubMed2004

Oxaliplatin plus high-dose leucovorin and 5-fluorouracil (FOLFOX 4) in platinum-resistant and taxane-pretreated ovarian cancer: a phase II study.

OBJECTIVE: A prospective phase II study was conducted to evaluate the efficacy and toxicity of oxaliplatin plus 5-fluoruracil (5-FU) and high-dose leucovorin (LV) (FOLFOX-4) in patients with platinum-resistant, taxane-pretreated recurrent ovarian cancer. PATIENTS AND METHODS: Thirty-eight patients, with a median age of 58 years (range 33-77), were treated with oxaliplatin 85 mg m(-2) as a 2-h infusion on day 1, LV 200 mg m(-2) day(-1) as a 2-h infusion followed by bolus 5-FU 400 mg m(-2) day(-1) and a 22-h infusion of 5-FU 600 mg m(-2) day(-1) for 2 consecutive days. Treatment was repeated every 3 weeks. Patients were evaluated for response every two cycles. RESULTS: The vast majority of patients had performance status 0 or 1 and 76.3% had > or = 2 metastatic sites. A median number of four cycles per patient (range, 1-8) were administered. Based on an intention-to-treat analysis, 3 patients (7.9%) achieved a complete response (CR) and 8 (21.1%) achieved a partial response (PR), for an overall response rate of 29%. Another 29% of patients had stable disease (SD). The median relapse-free survival was 5.2 months (range 2.5-17), the median time to tumor progression was 4.8 months (range 0.6-19), and the median overall survival was 10.1 months (range 0.2-36). Toxicity was mild to moderate. Grade 3/4 neutropenia and thrombocytopenia occurred in 29% and 21.1% of patients, respectively. Febrile neutropenia was encountered in 3 patients (7.9%), who were successfully treated. Grade 3/4 neurotoxicity developed in 15.8% of patients; neurotoxicity gradually declined after treatment discontinuation. Alopecia, nausea-vomiting, diarrhea, mucositis, and asthenia were not a serious problem. There were no treatment-related deaths. CONCLUSION: The combination of oxaliplatin and 5-FU/LV (FOLFOX-4) appears to be an effective regimen with a good toxicity profile for the treatment of platinum-resistant, taxane-pretreated ovarian cancer.

Adult↗

PubMed2004

Molecular cytogenetic analysis of breast cancer: a combined multicolor fluorescence in situ hybridization and G-banding study of uncultured tumor cells.

In six patients with breast cancer, uncultured tumor cells were investigated with G-banding and multicolor fluorescence in situ hybridization (M-FISH). A large number of numerical and structural aberrations could be analyzed. Among other structural abnormalities, reciprocal, hidden and complex translocations were found. Recurrent t(1;10) and t(6;16), not previously described, were identified, as well as t(15;22). The latter was also found in additional cases among our unpublished breast carcinomas. The significance of t(15;22) for breast cancer is discussed, taking into account also data drawn from the literature. Reciprocal translocations were a prominent feature in a pseudodiploid lobular carcinoma. Hidden translocations on 6p22-p24 were detected with M-FISH. Involvement of 6p22-p24 was observed in five cases. The analysis of various other translocations and different structural abnormalities revealed the following common breakpoints (according to frequency of involvement): 1p34-p36, 3p12-p13, 4p13-->q11, 14p11-->q11, 1q42, 8p11, 8q24, 10q22, 11q13, 11q23-q24, 13q13, and 18p10-p11. Loss of 3p and 1p34-p36-->pter and complete or partial loss of 13q and chromosome 17 were also found. With the combination of G-banding and M-FISH techniques, chromosome misclassification is avoided and the characterization of complex tumor karyotypes is more effective.

Adult↗

PubMed2004

Detection of genetic alterations in primary bladder carcinoma with dual-color and multiplex fluorescence in situ hybridization.

Cytogenetic studies of bladder cancer have shown several nonrandom aberrations. Numerical aberrations of both sex chromosomes were investigated in 32 primary bladder tumors with bicolor fluorescence in situ hybridization (FISH). Loss of chromosome Y and overrepresentation of chromosome X were observed in subgroups of male patients. Chromosome X was represented normally in female patients. Two of the above primary bladder tumors, a transitional cell carcinoma (TCC) and an adenocarcinoma, were further analyzed with both multiplex FISH (24-color M-FISH) and G-banding. Both cases exhibited 1) common breakpoints on 5q11 approximately q12 and 15q24; 2) involvement of the pericentromeric area of chromosome 13; 3) structural abnormalities of chromosomes 8 and 17, with loss of material on the short arm; 4) structural abnormalities involving chromosome 11; and 5) loss of chromosome Y. The TCC case also exhibited structural abnormalities of chromosome 9, resulting in loss of 9q. The combined G-banding and M-FISH findings could help reveal regions potentially involved in bladder tumorigenesis.

Carcinoma↗

PubMed2003

Novel constitutional translocations t(3;5)(p25;q22) and t(1;14)(p31;q21) in patients with acute leukemia.

Certain constitutional translocations have been described to be associated with an increased risk of malignant diseases. We report here two patients, one with acute myeloid leukemia (AML) and another with biphenotypic acute leukemia, in whom constitutional translocations t(3;5)(p25;q22) and t(1;14)(p31;q21) were observed, respectively. To our knowledge, none of the above translocations has been previously reported.

Acute Disease↗

PubMed2003

Deletion (11)(q13) as the sole anomaly in myeloid malignancies: four new cases and a short review.

Chromosomal abnormalities are of significance in the study of hematologic malignancies. We describe one case of myelodysplastic syndrome (MDS) diagnosed 22 years ago as polycythemia vera (PV) as well as a case of unclassified myeloproliferative disease (MPD) with a poor clinical course. Both patients presented del(11)(q13) as the sole clonal abnormality. This abnormality was also found in two additional cases of MDS. Summarizing the literature, only ten other cases of myeloid malignancies with deletion of 11q involving band q13 as the sole anomaly have been reported. All but one of these cases presented interstitial deletions.

Aged↗