Progress in the management of patients with myelodysplastic syndromes (MDS) has been hampered by the inability to detect cytogenetic abnormalities in 40-60% of cases. We prospectively analyzed ...matched pairs of bone marrow and buccal cell (normal) DNA samples from 51 MDS patients by single nucleotide polymorphism (SNP) arrays, and identified somatically acquired clonal genomic abnormalities in 21 patients (41%). Among the 33 patients with normal bone marrow cell karyotypes, 5 (15%) had clonal, somatically acquired aberrations by SNP array analysis, including 4 with segmental uniparental disomies (UPD) and 1 with three separate microdeletions. Each abnormality was detected more readily in CD34+ cells than in unselected bone marrow cells. Paired analysis of bone marrow and buccal cell DNA from each patient was necessary to distinguish true clonal genomic abnormalities from inherited copy number variations and regions with apparent loss of heterozygosity. UPDs affecting chromosome 7q were identified in two patients who had a rapidly deteriorating clinical course despite a low-risk International Prognostic Scoring System score. Further studies of larger numbers of patients will be needed to determine whether 7q UPD detected by SNP array analysis will identify higher risk MDS patients at diagnosis, analogous to those with 7q cytogenetic abnormalities.
We present results of a long-baseline interferometry campaign using the PAVO beam combiner at the CHARA Array to measure the angular sizes of five main-sequence stars, one subgiant and four red giant ...stars for which solar-like oscillations have been detected by either Kepler or CoRoT. By combining interferomettic angular diameters, Hipparcos parallaxes, asteroseismic densities, bolometric fluxes, and high-resolution spectroscopy, we derive a full set of near-model-independent fundamental properties for the sample. We first use these properties to test asteroseismic scaling relations for the frequency of maximum power (v sub(max)) and the large frequency separation ( Delta v). We find excellent agreement within the observational uncertainties, and empirically show that simple estimates of asteroseismic radii for main-sequence stars are accurate to lap4%. We furthermore find good agreement of our measured effective temperatures with spectroscopic and photometric estimates with mean deviations for stars between T sub(eff) = 4600-6200 K of -22 + or - 32 K (with a scatter of 97 K) and -58 + or - 31 K (with a scatter of 93 K), respectively. Finally, we present a first comparison with evolutionary models, and find differences between observed and theoretical properties for the metal-rich main-sequence star HD 173701. We conclude that the constraints presented in this study will have strong potential for testing stellar model physics, in particular when combined with detailed modeling of individual oscillation frequencies.
Context. The large number of stars for which uninterrupted high-precision photometric timeseries data are being collected with Kepler and CoRoT initiated the development of automated methods to ...analyse the stochastically excited oscillations in main-sequence, subgiant and red-giant stars. Aims. We investigate the differences in results for global oscillation parameters of G and K red-giant stars due to different methods and definitions. We also investigate uncertainties originating from the stochastic nature of the oscillations. Methods. For this investigation we use Kepler data obtained during the first four months of operation. These data have been analysed by different groups using already published methods and the results are compared. We also performed simulations to investigate the uncertainty on the resulting parameters due to different realizations of the stochastic signal. Results. We obtain results for the frequency of maximum oscillation power (νmax) and the mean large separation (⟨ Δν ⟩) from different methods for over one thousand red-giant stars. The results for these parameters agree within a few percent and seem therefore robust to the different analysis methods and definitions used here. The uncertainties for νmax and ⟨ Δν ⟩ due to differences in realization noise are not negligible and should be taken into account when using these results for stellar modelling. Conclusions.
Activating mutations in tyrosine kinases have been identified in hematopoietic and nonhematopoietic malignancies. Recently, we and others identified a single recurrent somatic activating mutation ...(JAK2V617F) in the Janus kinase 2 (JAK2) tyrosine kinase in the myeloproliferative disorders (MPDs) polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. We used direct sequence analysis to determine if the JAK2V617F mutation was present in acute myeloid leukemia (AML), chronic myelomonocytic leukemia (CMML)/atypical chronic myelogenous leukemia (aCML), myelodysplastic syndrome (MDS), B-lineage acute lymphoblastic leukemia (ALL), T-cell ALL, and chronic lymphocytic leukemia (CLL). Analysis of 222 patients with AML identified JAK2V617F mutations in 4 patients with AML, 3 of whom had a preceding MPD. JAK2V617F mutations were identified in 9 (7.8%) of 116 CMML/a CML samples, and in 2 (4.2%) of 48 MDS samples. We did not identify the JAK2V617F disease allele in B-lineage ALL (n = 83), T-cell ALL (n = 93), or CLL (n = 45). These data indicate that the JAK2V617F allele is present in acute and chronic myeloid malignancies but not in lymphoid malignancies.
Myeloproliferative neoplasms (MPNs) are clonal stem cell disorders characterized by chronic proliferation of hematopoietic progenitors. We studied the telomere length (TL) of 335 MPN patients and 93 ...gender- and age-matched controls using a quantitative PCR method (relative TL calculated as the ratio of the amount of telomere DNA vs single-copy DNA: T/S ratio). TL was markedly reduced in MPN patients compared with controls (T/S 0.561 vs 0.990, P<0.001). In JAK2V617F MPN patients, TL correlated inversely with allelic burden (P<0.001). Patients homozygous for the mutation (allelic burden 90-100%) had the shortest TL, even when compared with patients with lower allele burdens consistent with a dominant heterozygous population (allelic burden 55-65%) (T/S 0.367 vs 0.497, P=0.037). This suggests that the high degree of proliferation of the MPN clone reduces TL and suggests the possibility that TL shortening may be indicative of progressive genomic instability during MPN progression. The TL of JAK2V617F-negative MPN patients was similar to JAK2V617F-positive counterparts (T/S 0.527 vs 0.507, P=0.603), suggesting that the yet-to-be-discovered causative mutation(s) impact the mutated stem cell similarly to JAK2V617F, and that TL measurement may prove useful in the diagnostic workup of JAK2V617F-negative MPN.
Observations of the pulsations of stars can be used to infer their interior structure and test theoretical models. The main-sequence γ Doradus (Dor) and δ Scuti (Sct) stars with masses 1.2-2.5 M ...SUBsun/SUB are particularly useful for these studies. The γ Dor stars pulsate in high-order g-modes with periods of order 1 day, driven by convective blocking at the base of their envelope convection zone. The δ Sct stars pulsate in low-order g- and p-modes with periods of order 2 hr, driven by the κ mechanism operating in the He II ionization zone. Theory predicts an overlap region in the Hertzsprung-Russell diagram between instability regions, where "hybrid" stars pulsating in both types of modes should exist. The two types of modes with properties governed by different portions of the stellar interior provide complementary model constraints. Among the known γ Dor and δ Sct stars, only four have been confirmed as hybrids. Now, analysis of combined Quarter 0 and Quarter 1 Kepler data for hundreds of variable stars shows that the frequency spectra are so rich that there are practically no pure δ Sct or γ Dor pulsators, i.e., essentially all of the stars show frequencies in both the δ Sct and the γ Dor frequency range. A new observational classification scheme is proposed that takes into account the amplitude as well as the frequency and is applied to categorize 234 stars as δ Sct, γ Dor, δ Sct/γ Dor or γ Dor/δ Sct hybrids.
Aims. We investigate the origin of a flux increase found during a transit of TrES-1, observed with the HST (Hubble Space Telescope). This feature in the HST light curve cannot be attributed to noise ...and is supposedly a dark area on the stellar surface of the host star eclipsed by TrES-1 during its transit. We investigate the likelihood of two possible hypotheses for its origin. A starspot or a second transiting planet. Methods. We made use of several transit observations of TrES-1 from space with the HST and from ground with the IAC 80-cm telescope (IAC-80). On the basis of these observations we did a statistical study of flux variations in each of the observed events to investigate whether similar flux increases are present in other parts of the data set. Results. The HST observation presents a single clear flux rise during a transit, whereas the ground observations lead to detecting two such events but with low significance. In the case of having observed a starspot in the HST data, assuming a central impact between the spot and TrES-1, we would obtain a lower limit for the spot radius of 42 000 km. For this radius the spot temperature would be 4690 K, 560 K lower then the stellar surface of 5250 K. For a putative second transiting planet, we can set a lower limit for its radius at 0.37 $R_{{\rm J}}$ and for periods of less than 10.5 days, we can set an upper limit at 0.72 $R_{{\rm J}}$. Conclusions. Assuming a conventional interpretation, this HST observation then constitutes the detection of a starspot. Alternatively, this flux rise might also be caused by an additional transiting planet. The true nature of the origin can be revealed if a wavelength dependency of the flux rise can be shown or discarded with higher certainty. Additionally, the presence of a second planet can be detected by radial velocity measurements.
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