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Highly radio-loud quasars (HRLQs; log  R > 2.5) at z ≳ 4 show apparent enhanced X-ray emission compared to matched HRLQs at lower redshifts, perhaps due to a redshift-dependent fractional contribution to the X-ray luminosity from inverse-Compton scattering of cosmic microwave background photons (IC/CMB). Using new Chandra observations and archival X-ray data, we investigate this phenomenon with an optically flux-limited sample of 41 HRLQs at z  = 4–5.5 all with sensitive X-ray coverage, the largest sample utilized to date by a wide margin. X-ray enhancements are assessed using X-ray-to-optical flux ratios and spectral energy distributions. We confirm the presence of X-ray enhancements at a 4.9–5.3σ significance level, finding that the median factor of enhancement is ≈1.8 at our sample median redshift of z ≈ 4.4. Under a fractional IC/CMB model, the expected enhancement at lower redshifts is modest; e.g. ≈4 per cent at z ≈ 1.5. We also investigate a sample of seven radio-loud quasars (RLQs; log  R > 1) at even higher redshifts of z  = 5.6–6.8, using new and archival X-ray data. These RLQs also show evidence for X-ray enhancements by a median factor of ≈2.7 at a 3.7–4.9σ significance level. The X-ray spectral and other properties of these z  = 5.6–6.8 RLQs, however, pose challenges for a straightforward fractional IC/CMB interpretation of their enhancements. [ABSTRACT FROM AUTHOR]

The Australia Telescope Large Area Survey (ATLAS) and the VLA survey in the XMM-LSS/VIDEO deep field provide deep (≈15 |$\mu$| Jy beam−1) and high-resolution (≈4.5–8 arcsec) radio coverage of the three XMM-SERVS fields (W-CDF-S, ELAIS-S1, and XMM-LSS). These data cover a total sky area of 11.3 deg2 and contain ≈11 000 radio components. Furthermore, about 3 deg2 of the XMM-LSS field also has deeper MIGHTEE data that achieve a median RMS of 5.6 |$\mu$| Jy beam−1 and detect more than 20 000 radio sources. We analyse all these radio data and find source counterparts at other wavebands utilizing deep optical and infrared (IR) surveys. The nature of these radio sources is studied using radio-band properties (spectral slope and morphology) and the IR–radio correlation. Radio AGNs are selected and compared with those selected using other methods (e.g. X-ray). We found 1656 new AGNs that were not selected using X-ray and/or MIR methods. We constrain the FIR-to-UV SEDs of radio AGNs using cigale and investigate the dependence of radio AGN fraction upon galaxy stellar mass and star formation rate. [ABSTRACT FROM AUTHOR]

We investigate the ionized gas kinematics relationship with X-ray, radio and accreting properties using a sample of 348 nearby ( z < 0.4 ) SDSS-FIRST-X-ray detected AGNs. X-ray properties of our sample are obtained from XMM-Newton, Swift and Chandra observations. We unveil the ionized gas outflows in our sample manifested by the non-gravitational broad component in [O iii]λ5007Å emission line profiles. From the comparison of the correlation of non-parametric outflow velocities (i.e., the velocity width, the maximal velocity of outflow and line dispersion) with X-ray luminosity and radio luminosity, we find that outflow velocities have similarly positive correlations with both X-ray and radio luminosity. After correcting for the gravitational component, we find that the [O iii] velocity dispersion normalized by stellar mass also increases with both X-ray luminosity and radio luminosity. We also find that, for a given X-ray (radio) luminosity, radio (X-ray) luminous AGNs have higher outflow velocities than non-radio (non-X-ray) luminous AGNs. Therefore, we find no clear preference between X-ray luminosity and radio luminosity in driving high-velocity ionized outflows and conclude that both AGN activity and small-scale jets contribute comparably. Moreover, there is no evidence that our obscured AGNs are preferentially associated with higher velocity outflows. Finally, we find a turning point around log (λ E d d) ≃ − 1.3 when we explore the dependency of outflow velocity on Eddington ratio. It can be interpreted considering the role of high radiation pressure (log (λ E d d) ≳ − 1.3 ) in causing drastic reduction in the covering factor of the circumnuclear materials. [ABSTRACT FROM AUTHOR]

Nicotinamide adenine dinucleotide (NAD+) is an essential cofactor required for proper functioning of all cells and its decline is correlated with advancing age and disease. This randomized, triple-blind, placebo-controlled, crossover pilot study assessed the efficacy and safety of a combination of nicotinamide with D-ribose (RiaGev) for NAD metabolome enhancement and related benefits in healthy middle-aged adults. Supplementing with 1520 mg RiaGev twice daily for 7 days significantly increased the NAD+ metabolome in blood, especially NADP+ by 27% compared to the placebo group (p = 0.033) and over the baseline (p = 0.007). Increases in glutathione and high energy phosphates were also observed in the blood. Seven-day supplementation with RiaGev significantly (p = 0.013) reduced overall blood glucose without significant changes in insulin secretion (p = 0.796), suggesting an improved insulin sensitivity and glucose tolerance. The waking salivary cortisol of the subjects steadily and significantly decreased (p = 0.026) in the RiaGev group in contrast to the placebo. Subjects in the RiaGev group showed less fatigue, improved mental concentration and motivation over the baseline (p = 0.015, 0.018, and 0.012, respectively) as observed through the Checklist Individual Strength (CIS) questionnaire. There were no clinically relevant adverse events, or alterations in hematology, electrolytes, liver, and kidney markers pre- and post-supplementation. RiaGev appears to be safe and efficacious in increasing NAD+ metabolome in healthy middle-aged adults, as shown by this study. [ABSTRACT FROM AUTHOR]

Most bulge‐dominated galaxies host black holes (BHs) with masses that tightly correlate with the masses of their bulges. This may indicate that the BHs may regulate galaxy growth, or vice versa, or that they may grow in lock‐step. The quest to understand how, when, and where those BHs formed motivates much of extragalactic astronomy. Here we focus on a population of galaxies with active BHs in their nuclei (active galactic nuclei [AGN]), that are fully or partially hidden by dust and gas: The emission from the broad line region is either completely or partially obscured with a visual extinction of one or above. This limit, though not yet precise, appears to be the point at which the populations of AGN may evolve differently. We highlight the importance of finding and studying those dusty AGN at redshifts between one and three, the epoch when the universe may have gone through its most dramatic changes. We emphasize the need for future large multiplexed spectroscopic instruments that can perform dedicated surveys in the optical and near‐infrared to pin down the demographics of such objects, and study their reddening properties, star‐formation histories, and excitation conditions. These key studies will shed light on the role of BHs in galaxy evolution during the epoch of peak growth activity. [ABSTRACT FROM AUTHOR]

Amino acid sequence analysis of the PikD regulatory factor of Streptomyces venezuelae shows homology with other bacterial regulatory proteins. The PikD with a triphosphate-binding domain at the N-terminus and a DNA-binding motif at the C-terminus, is a positive regulator as demonstrated with its capacity to restore macrolide biosynthesis.

Author(s): Yongquan Xue; David H. Sherman (corresponding author) Modular polyketide synthases are giant multifunctional enzymes that catalyse the condensation of small carboxylic acids such as acetate and propionate into structurally [...]

Context. Spatially resolved observations of the ionized and molecular gas are critical for understanding the physical processes that govern the interstellar medium (ISM) in galaxies. The observation of starburst systems is also important as they present extreme gas conditions that may help to test different ISM models. However, matched resolution imaging at ∼kpc scales for both ISM gas phases are usually scarce, and the ISM properties of starbursts still remain poorly understood. Aims. We aim to study the morpho-kinematic properties of the ionized and molecular gas in three dusty starburst galaxies at z = 0.12−0.17 to explore the relation between molecular ISM gas phase dynamics and the star-formation activity. Methods. We employ two-dimensional dynamical modelling to analyse Atacama Large Millimeter/submillimiter Array CO(1–0) and seeing-limited Spectrograph for INtegral Field Observations in the Near Infrared Paschen-α (Paα) observations, tracing the molecular and ionized gas morpho-kinematics at ∼kpc-scales. We use a dynamical mass model, which accounts for beam-smearing effects, to constrain the CO-to-H2 conversion factor and estimate the molecular gas mass content. Results. One starburst galaxy shows irregular morphology, which may indicate a major merger, while the other two systems show disc-like morpho-kinematics. The two disc-like starbursts show molecular gas velocity dispersion values comparable with those seen in local luminous and ultra luminous infrared galaxies but in an ISM with molecular gas fraction and surface density values in the range of the estimates reported for local star-forming galaxies. We find that these molecular gas velocity dispersion values can be explained by assuming vertical pressure equilibrium. We also find that the star-formation activity, traced by the Paα emission line, is well correlated with the molecular gas content, suggesting an enhanced star-formation efficiency and depletion times of the order of ∼0.1−1 Gyr. We find that the star-formation rate surface density (ΣSFR) correlates with the ISM pressure set by self-gravity (Pgrav) following a power law with an exponent close to 0.8. Conclusions. In dusty disc-like starburst galaxies, our data support the scenario in which the molecular gas velocity dispersion values are driven by the ISM pressure set by self-gravity and are responsible for maintaining the vertical pressure balance. The correlation between ΣSFR and Pgrav suggests that, in these dusty starbursts galaxies, the star-formation activity arises as a consequence of the ISM pressure balance. [ABSTRACT FROM AUTHOR]

We report the discovery of large-amplitude mid-infrared variabilities (MIR; ∼0.3 mag) in the Wide-field Infrared Survey Explorer W 1 and W 2 bands of the low-luminosity narrow-line Seyfert 1 galaxy WPVS 007, which exhibits prominent and varying broad-absorption lines (BALs) with blueshifted velocity up to |${\sim } 14\, 000$| |$\rm km\ s^{-1}$|⁠. The observed significant MIR variability, the UV to optical colour variabilities in the Swift  bands that deviate from the predictions of pure dust attenuation models, and the fact that Swift  light curves can be well fitted by the stochastic AGN variability model suggest that its observed flux variabilities in the UV–optical–MIR bands should be intrinsic, rather than owing to variable dust extinction. Furthermore, the variations of BAL features (i.e. trough strength and maximum velocity) and continuum luminosity are concordant. Therefore, we propose that the BAL variability observed in WPVS 007 is likely induced by the intrinsic ionizing continuum variation, alternative to the rotating-torus model proposed in a previous work. The BAL gas in |$\rm WPVS\ 007$|  might be in the low-ionization state as traced by its weak N  v  BAL feature; as the ionizing continuum strengthens, the C  iv  and Si  iv  column densities also increase, resulting in stronger BALs and the emergence of high-velocity components of the outflow. The outflow launch radius might be as small as ∼8 × 10−4 pc under the assumption of being radiatively driven, but a large-scale origin (e.g. torus) cannot be fully excluded because of the unknown effects from additional factors, e.g. the magnetic field. [ABSTRACT FROM AUTHOR]

The Chinese Space Station Optical Survey (CSS-OS) is a major science project of the Space Application System of the China Manned Space Program. This survey is planned to perform both photometric imaging and slitless spectroscopic observations, and it will focus on different cosmological and astronomical goals. Most of these goals are tightly dependent on the accuracy of photometric redshift (photo- z) measurement, especially for the weak gravitational lensing survey as a main science driver. In this work, we assess if the current filter definition can provide accurate photo- z measurement to meet the science requirement. We use the COSMOS galaxy catalogue to create a mock catalogue for the CSS-OS. We compare different photo- z codes and fitting methods that use the spectral energy distribution template-fitting technique, and choose to use a modified lephare code in photo- z fitting process. Then we investigate the CSS-OS photo- z accuracy in certain ranges of filter parameters, such as band position, width, and slope. We find that the current CSS-OS filter definition can achieve reasonably good photo-z results with σ z  ∼ 0.02 and outlier fraction ∼3 per cent. [ABSTRACT FROM AUTHOR]

Research is presented demonstrating the proof of principle that non-natural secondary metabolite glycosylation patterns can be constructed through a selection of heterologous gene combinations.

The entire desoamine biosynthetic gene cluster from Streptomyces venezuelae methymicyin/neomethymycin producing strain has recently been cloned and sequenced. Eight open reading frames (ORFs) were applied to steps in the biosynthesis of TDP-D-desosamine, with desR, encoding a macrolide beta-glucosidase, involved in glycosylation. This gives an insight into the reaction sequences of the desoamine pathway.

Abstract: A pericentric inv(9)(p22q34) of the derivative chromosome 9 that resulted from a standard t(9;22)(q34;q11.2) was identified by R-banding karyotypic analysis and fluorescence in situ hybridization (FISH) assays in 4 (0.18%) of 2,200 Philadelphia chromosome (Ph)-positive leukemia patients, including 3 with chronic myeloid leukemia (CML) in chronic phase and 1 with acute myeloid leukemia (AML) in our hospital since 2004. All four patients had two malignant clones: one with only t(9;22)(q34;q11.2) and another with der(9)t(9;22)(q34;q11.2)inv(9)(p22q34) that resulted in the separation of the ABL1/BCR fusion gene. No metaphases with only inv(9)(p22q34) were seen in any of them. FISH also found a deletion of partial sequence of BCR on der(9)t(9;22)(q34;q11.2)inv(9)(p22q34) in 67.5% of bone marrow cells in the AML patient, but did not detect the deletion of the sequence of ASS/9q34 in these four patients. Reverse transcriptase–polymerase chain reaction revealed a b3a2 type of BCR/ABL1 fusion transcript in all of them, proving their disease to be Ph-positive leukemia. On reviewing the literature, only two solitary Ph-positive leukemia patients have been noticed to have the inv(9)(p22q34) anomaly. These two patients, together with our four documented patients, indicate that inv(9)(p22q34) is a novel, rare, but recurrent secondary chromosomal abnormality for Ph-positive leukemia. Despite receiving hydroxyurea therapy (n = 3 patients), combined chemotherapy (n = 2), even imatinib treatment (n = 1), three patients, including one with AML and two with CML (one of whom progressed into the lymphoblastic blast phase), died with survival times of 28 days, 13 months, and 34 months, respectively. Only one patient with CML remained alive for 5.5 months. Their negative outcome implies that inv(9)(p22q34) has an unfavorable impact on prognosis. Presently, no firm conclusions can be drawn from this study. Because the case number reported here is very small, more patients with this anomaly need to be investigated to elucidate its true prognostic significance. [Copyright &y& Elsevier]

Abstract: Translocation (14;14)(q11;q32) is one of the recurrent chromosome aberrations in ataxia-teleangiectasia (AT) and T-cell malignancies. In patients with the t(14;14), the TCL1 and TCRα/δ genes were found to be involved at the molecular level. However, t(14;14)(q11;q32) is an exceedingly rare phenomenon in B-lineage acute lymphoblastic leukemia (B-ALL). To date, it has been reported in only 5 B-ALL cases. Here, we report another B-ALL case with t(14;14)(q11;q32) in a 39-year-old female. The immunophenotype of the blasts showed positivity for CD79a, CD10, CD19, and HLA-DR. Chromosome analysis of the bone marrow (BM) cells at presentation showed the karyotype 47,XX,+4,t(14;14)(q11;q32). Fluorescence in situ hybridization (FISH) demonstrated trisomy 4 and the simultaneous involvement of the IGH gene at 14q32 and the CEBPE gene at 14q11, which differs from the genes involved in T-cell leukemias. After chemotherapy, the patient achieved complete remission (CR). Later, she received allogeneic peripheral blood stem cell transplantation. After CR, the karyotype of the BM cells was normal. She was disease-free at a 6-month follow-up. We suggest that t(14;14)(q11;q32) involving the IGH and CEBPE genes in B-ALL is rare, but it is a recurrent abnormality that could identify a new subgroup of B-ALL. [Copyright &y& Elsevier]

Objective: To report here a new acute myelocytic leukemia (AML) cell line SH-2 and describe its biological characteristics. Materials and Methods: Mononuclear cells isolated from a patient with AML-M2 subtype were passaged by liquid culture medium. Interleukin-3 and bone marrow stromal cells were used to support cell proliferation at the first 3 months. Various methods, including cytogenetic analysis, fluorescence in situ hybridization (FISH), multiplex FISH (M-FISH), reverse transcriptase polymerase chain reaction (RT-PCR), multiplex RT-PCR, short tandem repeat (STR)–PCR, direct sequencing of DNA, clonogenic assay, and tumorigenicity in nude and severe combined immunodeficient (SCID) mice were employed to identify and characterize SH-2 cell line. Results: SH-2 cells were maintained without cytokine and stromal cells for 3 years. It had no Epstein-Barr virus or mycoplasma contamination. The SH-2 cell line showed typical myelocytic features in morphology and simultaneous strongly expressed myeloid antigens (CD13, 99.6% and CD33, 99.26%) and natural killer (NK)–related antigens (CD56, 99.5% and CD16/56, 99.62%) suggesting that SH-2 is an AML cell line with NK-antigen expression. SH-2 cell line initially showed a karyotype of 45, X, -Y, der(16)t(16;17)(q24;q12), −17, +19. During the passage period, the cells with a hypodiploid karyotype gradually decreased and were replaced by the near-tetraploid cells with a karyotype of 71-105(86), XX, -Y, -Y, der(16)t(16;17)×2, −17, −17, +19, +19. FISH and M-FISH delineated all abnormalities. SH-2 cells had the approximately same morphological, immunophenotypical, and cytogenetic features as the patient''s leukemia cells had. STR-PCR provided powerful evidence for the derivation of SH-2 cell line from the patient''s leukemia cells. SH-2 cells showed multiple drug resistance (MDR), which may be related to the p53 gene alteration, including the loss of one p53 allele due to the monosomy 17 and a point mutation of CAG to CAT at codon 576 of exon 5 in another p53 allele resulting in the loss of p53 gene function. In addition, SH-2 cell line did not express MDR-related genes, such as MDR1, multidrug resistance-related protein, and lung resistance protein, but expressed apoptosis-related genes, such as Bcl-2, Fas, glutathione S-transferase-π, and p21, which were also related to the MDR. SH-2 cell line had tumorigenic capacities in nude and SCID mice. Conclusion: Because SH-2 cell line had a clear biology background, it will provide a useful tool for the study of the pathogenesis and treatment strategy of AML with MDR. [Copyright &y& Elsevier]

By analyzing the characteristics of morphology, immune phenotype, chromosome karyotype and clinical manifestations of six cases of B-lymphoid and myeloid lineages biphenotypic acute leukemia (BAL) with t(8;21)(q22;q22), a new subgroup of BAL was reported. Bone marrow eosinophilia (more than 5%) and pseudo-Chediak abnormalities were not found. Auer rods were also not identified in four of six cases. Immunophenotype revealed B-lymphoid and myeloid lineages positive, together with frequent and high expression of CD34 and CD33, and weak expression of HLA-DR. In addition to t(8;21) chromosomal translocation, deletion of Y chromosome and complex chromosome abnormalities were also found. Chemotherapy for myeloid and lymphoid leukemia simultaneously produced good response in the patients. BAL with t(8; 21)(q22; q22) might be a new subgroup of BAL, and it was suggested that the leukemia clone with t(8;21)(q22;q22) might have originated from an early phase of hematopoiesis, and AML1/ETO fusion gene might be related to differentiation of B lymphocyte. [ABSTRACT FROM AUTHOR]

Abstract: The cytogenetic anomaly der(20)del(20)(q11.2q13.3)idic(20)(p11), or idic(20q−) in short form, has been reported in 13 cases of myelodysplastic syndrome, one case of chronic myelomonocytic leukemia, and one case of acute myeloid leukemia since 2004. To our knowledge, it has not previously been described in lymphoid diseases. Here we report the cases of two patients with B-cell acute lymphocytic leukemia (ALL) having a novel idic(20q−). One was a 34-year-old man with B-cell ALL whose leukemic cells at presentation had a karyotype of 45,XY,dic(9;20)(p11;q11.2); at relapse, a small marker chromosome was found coexisting with the dic(9;20). The other was a 39-year-old woman with Ph-positive B-cell-ALL whose leukemic cells contained both t(9;22)(q34;q11.2) and a small marker chromosome. A series of FISH analyses using the appropriate probes revealed the small marker chromosome in both patients to be an idic(20q−), confirming the dic(9;20)(p11;q11.2) in one case and revealing a BCR/ABL fusion gene in the other. One patient achieved complete remission but relapsed; the other did not achieve complete remission. Both patients died with a short survival time, despite receiving intensive chemotherapy. These two cases show that idic(20q−) can appear not only in myeloid diseases but also in lymphoid diseases. [Copyright &y& Elsevier]

Abstract: Translocations involving 21q22 are commonly observed in both de novo and therapy-related acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). They often result in the disruption of RUNX1 and give rise to fusion genes consisting of RUNX1 and different partner genes, which contribute to leukemogenesis. To date, at least 21 such translocations are known from the literature. Here we report two novel translocations involving the RUNX1 gene: t(1;21)(q12;q22) in a 53-year-old woman with AML-M5b and t(11;21)(q13;q22) in a 65-year-old man with AML-M2. The abnormalities revealed by R-banding karyotypic analysis were confirmed with interphase and metaphase fluorescence in situ hybridization (FISH), chromosome painting, and M-FISH. [Copyright &y& Elsevier]

Here we report a rare chromosomal translocation, t(12;22)(p13;q11), which was detected in a 53-year-old female patient diagnosed as having minimally differentiated acute myeloid leukemia (AML-M0) according to the French-American-British classification criteria. Chromosome painting analysis with probes for chromosomes 12 and 22 confirmed the result of the conventional cytogenetic analysis. Reverse transcriptase polymerase chain reaction revealed the TEL-MN1 fusion transcript. Interestingly, she presented primary multidrug resistance and did not respond to several kinds of chemotherapy regimens. Moreover, she could not achieve remission after two doses of monotherapy with Mylotarg. Flow cytometry analysis detected high levels of expression of P-glycoprotein, multidrug-resistant-related protein, lung-related protein, and glutathione S-transferase π in this case at presentation. As far as we know, this is the first report of t(12;22)(p13;q11) translocation involving TEL and MN1 genes in an AML-M0 patient. Copyright © 2007 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Abstract: A clinical and experimental study of acute lymphoblastic leukemia (ALL) with a dic(7;9)(p11;p11) included 7 patients (5 males and 2 females) with a median age of 32 years. Cytogenetic analysis of bone marrow cells using an R-band technique showed a solitary dic(7;9) in 2 cases and a dic(7;9) accompanied by other abnormalities in 5 cases, of which 4 had also a t(9;22)(q34;q11). A minor breakpoint region (m-bcr) BCR/ABL rearrangement, corresponding to the fusion product gene p190, was detected by interphase FISH in 3 of these cases, Immunophenotyping analysis classified five of the 6 cases as B-lineage ALL. In 6 cases, FISH using whole chromosome painting (WCP) probes for chromosome 7 and 9 confirmed the reciprocal translocation between chromosomes 7 and 9; centromeric probes for chromosomes 7 and 9 confirmed the dicentric nature of the abnormal chromosome. The outcome of these ALL cases with simultaneous dic(7;9) and t(9;22) was worse than that of cases with an isolated dic(7;9). Our study brings the total number of published ALL cases with a dic(7;9) to 18. We consider the dic(7;9) a rare but recurrent abnormality, which may represent a distinct cytogenetic subgroup in B-ALL. [Copyright &y& Elsevier]

We report on seven patients with myeloid diseases characterized by i(20q−) anomaly. Four patients were male and three were female, their median age was 57 years. The diagnosis at presentation was myelodysplastic syndrome in six patients, acute myeloid leukaemia in one patient. Four died but three survived and remain anaemic. The survivals were 6 months for patient 1, 7 months for patient 2, 17 d for patient 4 and 28 d for patient 5. Chromosome specimens were prepared by direct and/or short-term culture of bone marrow cells. Karyotype analysis was performed by R- and G-banding technique, which showed that one of the normal chromosomes 20 was substituted by one or two small metacentric chromosomes in all seven patients. The karyotype was ider(20)(q10)del(20)(q11q13), i.e. i(20q−) in six patients by dual-colour fluorescence in situ hybridization assay using two probes (a subtelomeric probe for 20q and an unique probe for 20q12). As far as we know, this anomaly has not been reported previously. Thus, we consider that i(20q−) is a novel and rare recurrent chromosomal abnormality that is specifically associated with myeloid diseases and may indicate a poor prognosis. [ABSTRACT FROM AUTHOR]

A rare chromosomal translocation, (11;20)(p15;q11), was detected in a 29-year-old male patient diagnosed with acute monocytic leukemia (AMoL) according to the French–American–British classification criteria. Whole chromosome painting analysis with paints for chromosomes 11 and 20 confirmed the result of conventional cytogenetic analysis. Reverse transcriptase polymerase chain reaction revealed the NUP98-TOP1 fusion transcript. To our knowledge, this is the second report of the translocation involving NUP98 and TOP1 genes in AMoL. On reviewing the literature, we suggest that t(11;20)(p15;q11) is associated with myelocytic disorders rather than lymphocytic proliferative diseases. [Copyright &y& Elsevier]

Discusses the case of a 47-year-old woman with a variant form of t(8;21) translocation in acute myeloblastic leukemia (AML) patients. Karyotype; Detection of AML1/ETO chimeric fusion gene; Morphologic features of the patient; Localization of chromosome translocations.

Abstract: Acute promyelocytic leukemia (APL) is characterized by the presence of a chromosomal rearrangement involving retinoic acid receptor alpha (RARα) gene generating the X-RARα fusion. We describe here a unique RARα gene rearrangement in a patient with M3r subtype of APL. Conventional cytogenetic analysis revealed Y-chromosome loss as the sole karyotypic anomaly. No X-RARα fusion was detected by fluorescence in situ hybridization (FISH) using PML/RARα dual-color dual-fusion translocation probe set, or RARα dual-color break apart rearrangement probe or reverse-transcription polymerase chain reaction (RT-PCR). However, FISH using RARα dual-color break apart rearrangement probe showed a deletion of the entire 3′-end of one allele of RARα gene. To our knowledge, this is the first documented APL with 3′RARα submicroscopic deletion which is not associated with X-RARα fusion. The molecular consequences of this anomaly remain to be elucidated. [Copyright &y& Elsevier]

The article examines the occurrence of somatic BRAF V600E mutation in patient suffering from hematologic malignancies. The study denies the presence of evidence of BRAF mutations that involves exon 15 in patients. Noted is the detection of BRAF V600E mutation in bone marrow mononuclear cells in patients with hairy cell leukemia.