Evidence-based genomic diagnosis characterized chromosomal and cryptic imbalances in 30 elderly patients with myelodysplastic syndrome and acute myeloid leukemia.

BACKGROUND: To evaluate the clinical validity of genome-wide oligonucleotide array comparative genomic hybridization (aCGH) for detecting somatic abnormalities, we have applied this genomic analysis to 30 cases (13 MDS and 17 AML) with clonal chromosomal abnormalities detected in more than 50% of analyzed metaphase cells. RESULTS: The aCGH detected all numerical chromosomal gains and losses from the mainline clones and 113 copy number alterations (CNAs) ranging from 0.257 to 102.519 megabases (Mb). Clinically significant recurrent deletions of 5q (involving the RPS14 gene), 12p12.3 (ETV6 gene), 17p13 (TP53 gene), 17q11.2 (NF1 gene) and 20q, double minutes containing the MYC gene and segmental amplification involving the MLL gene were further characterized with defined breakpoints and gene contents. Genomic features of microdeletions at 17q11.2 were confirmed by FISH using targeted BAC clones. The aCGH also defined break points in a derivative chromosome 6, der(6)t(3;6)(q21.3;p22.2), and an isodicentric X chromosome. However, chromosomally observed sideline clonal abnormalities in five cases were not detected by aCGH. CONCLUSIONS: Our data indicated that an integrated cytogenomic analysis will be a better diagnostic scheme to delineate genomic contents of chromosomal and cryptic abnormalities in patients with MDS and AML. An evidence-based approach to interpret somatic genomic findings was proposed

Thermo-magnetic convection in ferrofluids with gravity-modulation

282-291Convection in magnetic fluids is considered in the presence of vertical magnetic field and periodically modulated gravitational field. Depending upon the different physical parameters, modulation may have destabilizing effect on the unmodulated stable system. Also, the unstable system may get stabilized with modulation. Instability may occur either as subharmonic instability or harmonic instability. Using Floquet theory, the regions of parametric instability have been obtained

Stability of nonaxisymmetric ferrofluid flow in rotating cylinders with magnetic field

Effect of an axially applied magnetic field on the stability of a ferrofluid flow in an annular space between two coaxially rotating cylinders with nonaxisymmetric disturbances has been investigated numerically. The critical value of the ratio Ω∗ of angular speeds of the two cylinders, at the onset of the first nonaxisymmetric mode of disturbance, has been observed to be affected by the applied magnetic field

Temperature Modulation in Rayleigh-Benard Convection

The parametric instability of an infnite horizontal fluid layer excited by time periodic oscillation of the wall temperatures, has been investigated numerically, using the Floquet analysis. It has been found that the modulation of the temperature gradient across the fluid layer affects the onset of the Rayleigh-Benard convection. The instability zones in the parametric space of the dimensionless wave number of disturbance and the amplitude of modulation, have been obtained. The instability response has been found to be harmonic or subharmonic with respect to the frequency of modulation, depending upon the modulation parameters

Patterns in magnetic fluids

366-371<span style="font-size:11.0pt;line-height:115%; font-family:" calibri","sans-serif";mso-ascii-theme-font:minor-latin;mso-fareast-font-family:="" "times="" new="" roman";mso-fareast-theme-font:minor-fareast;mso-hansi-theme-font:="" minor-latin;mso-bidi-font-family:arial;mso-ansi-language:en-us;mso-fareast-language:="" en-us;mso-bidi-language:ar-sa"="">This article is devoted to the study of instabilities in magnetic fluids, resulting in the formation of steady state patterns. Spatially periodic patterns -rolls, squares and hexagons appear due to normal field instability and convective instability in magnetic fluids. Relative instability of these patterns has been discussed using equivalent bifurcation theory.</span

Myeloid Sarcoma: Extramedullary Relapse After Allogeneic Bone Marrow Transplant for Chronic Myelogenous Leukemia

Myeloid sarcoma (MS) is an extramedullary tumor of myeloid precursor cells, which can precede or occur concomitantly with acute myeloid leukemia, myelodysplastic syndrome, or myeloproliferative neoplasms. Although MS can involve any organ, it is more common in the central nervous system (CNS) and gonads, sites known as “pharmacologic sanctuaries” where leukemic cells can survive despite systemic chemotherapy. Less often, this tumor can be the manner of relapse after allogeneic bone marrow transplantation. The diagnosis is based on morphology and immunophenotype by either flow cytometry or immunohistochemistry of paraffin-embedded tissue, and confirmed by FISH or molecular studies. Myeloid sarcomas usually express the leukocyte common antigens CD45, CD13, CD33, CD43 and lack T-cell and B-cell antigens

Molecular Profiling of Patients with Non Small Cell Lung Cancer at Jefferson University Hospital

Companion diagnostics is the use of specific tests whose results are linked to a particular drug. It allows clinicians the ability to better target the mechanism of pathology in the patient and follow it up with a therapy specifically designed to treat the disease process at hand. This approach to medicine has particularly been championed in the field of oncology with the development of such drugs as Zelboraf for the treatment of metastatic melanoma with the BRAFV600 mutation or Xalkori for late stage lung cancer expressing an abnormal ALK protein. In the case of non-small cell lung cancer (NSCLC) Jefferson has developed an algorithm to establish if patients are positive for mutations of EGFR or alterations of ALK, ROS1, or RET genes in which case patients can be treated with drugs such as erlotinib, crizotinib, and cabozantinib