(National University of Singapore, Yong Loo Lin School of Medicine) NUS researchers have discovered a new pathway by which a severe form of acute myeloid leukemia (AML) develops. The main player in the pathway, a protein called SHARP1, promotes leukemia development and maintenance, both on its own and through its actions on other genes. The discovery could lead to the development of novel SHARP1-specific treatments for this difficult-to-treat form of AML.

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Application of next-generation sequencing (NGS) panels is usually limited to diagnosis, prognosis, and development of personalized treatment strategies/targeted therapies for patients with myeloid malignancies e.g., Myelodysplastic syndrome (MDS), myeloproliferative neoplasms (MPN), and acute myelogenous leukemia (AML). Here we present a case of 3 year old male that presented with pancytopenia and splenomegaly. His initial bone marrow revealed mild to moderate fibrosis (normocellular; no increase in blasts).

Source: Cancer Genetics and CytogeneticsCategory: Genetics & Stem Cells Authors: Source Type: research

Acute myeloid leukemia (AML) is grouped in multiple subtypes based on recurrent genomic abnormalities with diagnostic and prognostic significance. To enhance our diagnostic approach, we developed a clinical whole-genome mate pair-sequencing (MPseq) assay to detect structural rearrangements and copy number changes. DNA is processed using Illumina Nextera MP library kit, sequenced and aligned to the reference genome using BIMA. Abnormalities are visualized using Mayo-developed Ingenium software using AML-panel restricting analysis to classic-AML rearrangements: ABL1, BCR, CBFB, CREBBP, DEK, KAT6A, MECOM, MLF1, MLL(KMT2A), MY…

Source: Cancer Genetics and CytogeneticsCategory: Genetics & Stem Cells Authors: Source Type: research

Publication date: Available online 17 May 2018Source: MethodsAuthor(s): Xueyuan Cao, E. Olusegun George, Mingjuan Wang, Dale B. Armstrong, Cheng Cheng, Susana Raimondi, Jeffrey E. Rubnitz, James R. Downing, Mondira Kundu, Stanley B. PoundsAbstractEvaluating the differential expression of a set of genes belonging to a common biological process or ontology has proven to be a very useful tool for biological discovery. However, existing gene-set association methods are limited to applications that evaluate differential expression across k⩾2 treatment groups or biological categories. This limitation precludes researchers from…

Source: MethodsCategory: Molecular Biology Source Type: research

Publication date: June 2018Source: Medical Mycology Case Reports, Volume 20Author(s): Daiki Karigane, Masatoshi Sakurai, Emiko Matsuyama, Kentaro Ide, Sakiko Yamamoto-Takeuchi, Toyoko Inazumi, Sumiko KohashiAbstractWe encountered a case of a 73-year-old man with acute myeloid leukemia who developed Trichosporon asahii systemic infection while on itraconazole prophylaxis during severe neutropenia. Cryptococcal antigen was useful for diagnosis. Although itraconazole was ineffective in protecting against trichosporonosis, treatment was successful with voriconazole following liposomal amphotericin B.

Publication date: June 2018Source: Journal de Mycologie Médicale, Volume 28, Issue 2Author(s): L. Simon, L. Gastaud, D. Martiano, C. Bailleux, L. Hasseine, M. Gari-ToussaintAbstractEndophthalmitis is a rare infection of the vitreous and/or aqueous. It can be bacterial or fungal. Exogenous endophthalmitis is the most common form and results from direct inoculation of a pathogen after eye surgery or penetrating trauma. Endophthalmitis can also be endogenous, secondary to disseminated infection. Fungal endophthalmitis is associated with poor prognosis and treatment is difficult given the low penetration of most of the …

We report a myelodysplastic syndrome (MDS) patient who presented Fusarium solani infection associated with granulocytic sarcoma as an initial presentation of acute myeloid leukemia (AML) transformation. We performed histological examination, immunohistochemistry analysis, culture of the biopsy tissue and DNA sequencing to make a conclusive diagnosis of F. solani and granulocytic sarcoma, reinforcing the necessity of performing complete evaluation of skin lesions in immunocompromised patients.

Publication date: September 2018Source: Biochimica et Biophysica Acta (BBA) – General Subjects, Volume 1862, Issue 9Author(s): Kamalika Sen, Dhananjay Bhattacharyya, Arijita Sarkar, Jyotirmoy Das, Nilanjana Maji, Moitri Basu, Zhumur Ghosh, Tapash Chandra GhoshAbstractBackgroundHuman Chronic and Acute Myeloid Leukemia are myeloproliferative disorders in myeloid lineage of blood cells characterized by accumulation of aberrant white blood cells. In cancer, the anomalous transcriptome includes deregulated expression of non-coding RNAs in conjunction with protein-coding mRNAs in human genome. The coding or non-coding RNA transc…

ConclusionsDeregulated expressions of miRNAs pose significant impact on the clinical outcomes in AML patients. MicroRNA therapeutics indeed has a tremendous potential in the treatment of AML.

Source: Meta GeneCategory: Genetics & Stem Cells Source Type: research

ConclusionDNMT3A R882H is a frequent mutation in adult de novo AML. The frequency of the mutation tends to increase with age. The two methods used in the study are easy to interpret and are recommended for rapid detection of the mutation required for risk stratification.

ConclusionEvaluation of FLT3 receptor/CD135 expression by flow cytometry at diagnosis of AML could constitute a predictor for the FLT3-ITD mutational status and FLT3 transcript level.

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