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Haematology genetics

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https://www.readbyqxmd.com/read/30293710/the-era-of-parp-inhibitors-in-ovarian-cancer-class-action-or-not-a-systematic-review-and-meta-analysis
#1
REVIEW
Nicoletta Staropoli, Domenico Ciliberto, Teresa Del Giudice, Eleonora Iuliano, Maria Cucè, Francesco Grillone, Angela Salvino, Vito Barbieri, Antonio Russo, Pierfrancesco Tassone, Pierosandro Tagliaferri
INTRODUCTION: Carboplatin is the milestone of epithelial ovarian cancer (EOC) treatment, thus response to platinum is the major prognostic factor. Among platinum-sensitive patients, 40% carry a germline or somatic BRCA1/2 mutation. In this scenario a new class of drugs, the PARP inhibitors (PARPis), produced a significant improvement in long-term disease control. In order to make an aggregate evaluation of the impact of these agents, we performed a systematic review and meta-analysis...
November 2018: Critical Reviews in Oncology/hematology
https://www.readbyqxmd.com/read/30239865/chemotherapy-induced-genotoxic-damage-to-bone-marrow-cells-long-term-implications
#2
Jennifer E May, Craig Donaldson, Liana Gynn, H Ruth Morse
Mesenchymal stem/stromal cells (MSCs) within the bone marrow (BM) are vitally important in forming the micro-environment supporting haematopoiesis after myeloablative chemotherapy. MSCs are known to be damaged phenotypically and functionally by chemotherapy; however, to the best our knowledge, the persistence of genotoxic effects of chemotherapy on the BM micro-environment has not been studied. We therefore aimed to evaluate genotoxic effects of chemotherapy on the BM both in vitro and in vivo, using the comet and micronucleus assays, focussing on the persistence of DNA lesions that may contribute to complications in the patient...
September 17, 2018: Mutagenesis
https://www.readbyqxmd.com/read/30222780/clinical-molecular-testing-for-asxl1-c-1934dupg-p-gly646fs-mutation-in-hematologic-neoplasms-in-the-ngs-era
#3
Santiago Montes-Moreno, Mark J Routbort, Elijah J Lohman, Bedia A Barkoh, Rashmi Kanagal-Shamanna, Carlos E Bueso-Ramos, Rajesh R Singh, L Jeffrey Medeiros, Raja Luthra, Keyur P Patel
ASXL1 (additional sex combs like 1) is a gene that is mutated in a number of hematological neoplasms. The most common genetic alteration is c.1934dupG p.Gly646fs. Previous publications have shown that ASXL1 mutations have a negative prognostic impact in patients with MDS and AML, however, controversy exists regarding the molecular testing of ASXL1 c.1934dupG as polymerase splippage over the adjacent homopolymer could lead to a false-positive result. Here, we report the first study to systematically test different targeted next generation sequencing (NGS) approaches for this mutation in patients with hematologic neoplasms...
2018: PloS One
https://www.readbyqxmd.com/read/30210750/peripheral-nervous-system-involvement-in-lymphoproliferative-disorders
#4
REVIEW
Mario Sabatelli, Luca Laurenti, Marco Luigetti
Peripheral neuropathies are a vast group of diseases with heterogeneous aetiologies, including genetic and acquired causes. Several haematological disorders may cause an impairment of the peripheral nervous system, with diverse mechanisms and variable clinical, electrophysiological and pathological manifestations. In this practical review, we considered the main phenotypes of peripheral nervous system diseases associated with lymphoproliferative disorders. The area of intersection of neurological and haematological fields is of particular complexity and raises specific problems in the clinical practice of lymphoproliferative disorders...
2018: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/30176386/is-there-an-epidemic-of-chronic-lymphocytic-leukaemia-cll-in-china
#5
Shenmiao Yang, Robert Peter Gale, Hongxia Shi, Yanrong Liu, Yueyun Lai, Jin Lu, Xiaojun Huang
BACKGROUND: Chronic lymphocytic leukaemia (CLL) is 10- to 20-fold less common in Asians (including Han Chinese) compared with persons of predominately European descent. Why is unknown but seems predominately genetic. We observed an increasing frequency of new cases of CLL at our Haematology Centre beginning 2011 and wondered why. OBJECTIVE: Determine the cause(s) for this increased frequency. METHOD: We interrogated the context of CLL diagnosis in 483 consecutive subjects seen at the Institute of Haematology of a large referral hospital in Beijing...
August 22, 2018: Leukemia Research
https://www.readbyqxmd.com/read/30132390/diagnostic-and-prognostic-relevance-of-red-blood-cell-distribution-width-for-vascular-aging-and-cardiovascular-diseases
#6
Donatella Poz, Elena De Falco, Calogera Pisano, Rosalinda Madonna, Peter Ferdinandy, Carmela Rita Balistreri
Evidence suggests association of red blood cell distribution width (RDW) with cardiovascular diseases (CVDs). On the contrary, we underline that the sole RDW values cannot represent a valid CVD biomarker. High RDW values are expression of biological effects of a lot of both endogenous and exogenous factors (i.e., age, sex, genetic background, inflammation, hormones, drugs, diet, exercise, hematological analyzers, and ranges of values), modulating the biology and physiology of erythrocytes. Thus, the singular monitoring of RDW cannot be used to predict cardiovascular disorders...
October 13, 2018: Rejuvenation Research
https://www.readbyqxmd.com/read/30115091/diagnostics-of-rare-disorders-whole-exome-sequencing-deciphering-locus-heterogeneity-in-telomere-biology-disorders
#7
Luca Trotta, Anna Norberg, Mervi Taskinen, Vivien Béziat, Sofie Degerman, Ulla Wartiovaara-Kautto, Hannamari Välimaa, Kirsi Jahnukainen, Jean-Laurent Casanova, Mikko Seppänen, Janna Saarela, Minna Koskenvuo, Timi Martelius
BACKGROUND: The telomere biology disorders (TBDs) include a range of multisystem diseases characterized by mucocutaneous symptoms and bone marrow failure. In dyskeratosis congenita (DKC), the clinical features of TBDs stem from the depletion of crucial stem cell populations in highly proliferative tissues, resulting from abnormal telomerase function. Due to the wide spectrum of clinical presentations and lack of a conclusive laboratory test it may be challenging to reach a clinical diagnosis, especially if patients lack the pathognomonic clinical features of TBDs...
August 17, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/30046162/subclonal-evolution-in-disease-progression-from-mgus-smm-to-multiple-myeloma-is-characterised-by-clonal-stability
#8
Ankit K Dutta, J Lynn Fink, John P Grady, Gareth J Morgan, Charles G Mullighan, Luen B To, Duncan R Hewett, Andrew C W Zannettino
Multiple myeloma (MM) is a largely incurable haematological malignancy defined by the clonal proliferation of malignant plasma cells (PCs) within the bone marrow. Clonal heterogeneity has recently been established as a feature in MM, however, the subclonal evolution associated with disease progression has not been described. Here, we performed whole-exome sequencing of serial samples from 10 patients, providing new insights into the progression from monoclonal gammopathy of undetermined significance (MGUS) and smouldering MM (SMM), to symptomatic MM...
July 25, 2018: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/30042109/allopurinol-induced-dress-syndrome-presented-as-a-cholecystitis-like-acute-abdomen-and-aggravated-by-antibiotics
#9
Mariana Batista, José Carlos Cardoso, Pedro Oliveira, Margarida Gonçalo
Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is a potentially life-threatening adverse drug reaction characterised by generalised skin rash, fever, lymph node enlargement and haematological abnormalities, in addition to multiorgan involvement. However, diagnosis can be challenging, with rare cases presenting as an acute abdomen.Its aetiopathogenesis is not fully understood but inefficient drug detoxification, deregulated immune responses, reactivation of host viruses and genetic predisposition appear to be important...
July 24, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/30026000/quality-of-life-in-patients-with-recurrent-ovarian-cancer-treated-with-niraparib-versus-placebo-engot-ov16-nova-results-from-a-double-blind-phase-3-randomised-controlled-trial
#10
Amit M Oza, Ursula A Matulonis, Susanne Malander, Stacie Hudgens, Jalid Sehouli, Josep M Del Campo, Dominique Berton-Rigaud, Susana Banerjee, Giovanni Scambia, Jonathan S Berek, Bente Lund, Anna V Tinker, Felix Hilpert, Isabel Palacio Vázquez, Véronique D'Hondt, Benedict Benigno, Diane Provencher, Joseph Buscema, Shefali Agarwal, Mansoor R Mirza
BACKGROUND: Quality of life (QOL) has become an important complementary endpoint in cancer clinical studies alongside more traditional assessments (eg, tumour response, progression-free survival, overall survival). Niraparib maintenance treatment has been shown to significantly improve progression-free survival in patients with recurrent ovarian cancer. We aimed to assess whether the benefits of extending progression-free survival are offset by treatment-associated toxic effects that affect QOL...
August 2018: Lancet Oncology
https://www.readbyqxmd.com/read/29963281/prescription-audit-in-a-paediatric-sickle-cell-clinic-in-south-west-nigeria-a-cross-sectional-retrospective-study
#11
Fadare Joseph Olusesan, Olatunya Oladele Simeon, Ogundare Ezra Olatunde, Oluwayemi Isaac Oludare, Agaja Oyinkansola Tolulope
Background: Sickle cell disease (SCD) is a genetic haematological disorder that affects millions of people around the world especially people of African heritage. The treatment of the symptoms of SCD includes the use of analgesics, antibiotics, and anti-malarial drugs. Studying the pattern of drug prescription is a veritable tool for establishing the current practice and how it conforms to existing guidelines. Objectives: The main objective of this study was to assess the pattern of drug prescription in children with sickle cell disease (SCD) attending the paediatric outpatients' clinic of a tertiary care centre in Ado-Ekiti, South-West Nigeria...
December 2017: Malawi Medical Journal: the Journal of Medical Association of Malawi
https://www.readbyqxmd.com/read/29895547/metachronous-renal-ewing-sarcoma-primitive-neuroectodermal-tumour-in-a-survivor-of-burkitt-lymphoma
#12
Kumail Khandwala, Kiran Hilal, Zehra Fadoo, Khurram Minhas
We present a case of a 14-year-old girl who was diagnosed with Burkitt lymphoma in 2014. She was managed with chemotherapy and remained in remission for 3 years. On her surveillance imaging in 2017, a left-sided renal neoplastic mass was incidentally discovered. She underwent nephrectomy and pathology of the resected specimen revealed small cell tumour of the kidney with features favouring renal Ewing sarcoma/primitive neuroectodermal tumour. Molecular genetic analysis by fluorescence in situ hybridisation was performed which showed translocation of 22q12, thereby confirming the diagnosis...
June 11, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29843852/fanconi-anaemia-in-south-africa-past-present-and-future
#13
C Feben, T Wainstein, J Kromberg, F Essop, A Krause
Fanconi anaemia (FA) is an inherited genetic disorder characterised by somatic anomalies, bone marrow failure and an increased predisposition to solid tumours and haematological malignancies. South African (SA) black and Afrikaner individuals are at higher than average risk for this condition owing to genetic founder mutations in certain Fanconi-associated genes. This review explores the epidemiology, clinical presentation, diagnostic modalities and recommended care of affected patients, focusing on the founder population groups in SA...
April 25, 2018: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/29801475/dyskeratosis-congenita-with-a-novel-genetic-variant-in-the-dkc1-gene-a-case-report
#14
Vithiya Ratnasamy, Suganthan Navaneethakrishnan, Nirmala Dushyanthi Sirisena, Nana-Maria Grüning, Oliver Brandau, Kumanan Thirunavukarasu, Casey L Dagnall, Lisa J McReynolds, Sharon A Savage, Vajira H W Dissanayake
BACKGROUND: Dyskeratosis congenita (DC) is a rare genetic disorder of bone marrow failure inherited in an X-linked, autosomal dominant or autosomal recessive pattern. It has a wide array of clinical features and patients may be cared for by many medical sub specialties. The typical clinical features consist of lacy reticular skin pigmentation, nail dystrophy and oral leukoplakia. As the disease advances, patients may develop progressive bone marrow failure, pulmonary fibrosis, oesophageal stenosis, urethral stenosis, liver cirrhosis as well as haematological and solid malignancies...
May 25, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29797310/targeted-mutation-screening-of-292-candidate-genes-in-38-children-with-inborn-haematological-cytopenias-efficiently-identifies-novel-disease-causing-mutations
#15
Leo Kager, Raúl Jimenez Heredia, Tatjana Hirschmugl, Jasmin Dmytrus, Ana Krolo, Heiko Müller, Christoph Bock, Petra Zeitlhofer, Michael Dworzak, Georg Mann, Wolfgang Holter, Oskar Haas, Kaan Boztug
Establishing a precise diagnosis is essential in inborn haematological cytopenias to enable appropriate treatment decisions and avoid secondary organ damage. However, both diversity and phenotypic overlap of distinct disease entities may make the identification of underlying genetic aetiologies by classical Sanger sequencing challenging. Instead of exome sequencing, we established a systematic next generation sequencing-based panel targeting 292 candidate genes and screened 38 consecutive patients for disease-associated mutations...
July 2018: British Journal of Haematology
https://www.readbyqxmd.com/read/29794033/prediction-of-response-to-drug-therapy-in-psychiatric-disorders
#16
REVIEW
Shani Stern, Sara Linker, Krishna C Vadodaria, Maria C Marchetto, Fred H Gage
Personalized medicine has become increasingly relevant to many medical fields, promising more efficient drug therapies and earlier intervention. The development of personalized medicine is coupled with the identification of biomarkers and classification algorithms that help predict the responses of different patients to different drugs. In the last 10 years, the Food and Drug Administration (FDA) has approved several genetically pre-screened drugs labelled as pharmacogenomics in the fields of oncology, pulmonary medicine, gastroenterology, haematology, neurology, rheumatology and even psychiatry...
May 2018: Open Biology
https://www.readbyqxmd.com/read/29732003/single-cell-genetic-analysis-validates-cytopathological-identification-of-circulating-cancer-cells-in-patients-with-clear-cell-renal-cell-carcinoma
#17
Lucile Broncy, Basma Ben Njima, Arnaud Méjean, Christophe Béroud, Khaled Ben Romdhane, Marius Ilie, Veronique Hofman, Jane Muret, Paul Hofman, Habiba Chaabouni Bouhamed, And Patrizia Paterlini-Bréchot
Context: Circulating Rare Cells (CRC) are non-haematological cells circulating in blood. They include Circulating Cancer Cells (CCC) and cells with uncertain malignant features (CRC-UMF) according to cytomorphology. Clear cell renal cell carcinomas frequently bear a mutated Von Hippel-Lindau (VHL) gene. Aim: To match blind genetic analysis of CRC and tumor samples with CRC cytopathological diagnosis. Results: 29/30 patients harboured CRC (20 harboured CCC, 29 CRC-UMF) and 25/29 patients carried VHL mutations in their tumour...
April 13, 2018: Oncotarget
https://www.readbyqxmd.com/read/29700093/from-genomics-to-targeted-treatment-in-haematological-malignancies-a-focus-on-acute-myeloid-leukaemia
#18
Niels Asger Jakobsen, Paresh Vyas
The haematological malignancies are a heterogeneous group of neoplastic disorders, which lead to almost 10,000 deaths annually in the UK. Over the past 2 decades, there has been significant progress in our understanding of the pathological mechanisms underlying these cancers, accompanied by improvements in outcomes for some patients. In particular, advances in next-generation sequencing now make it possible to define the genetic lesions present in each patient, which has led to improved disease classification, risk stratification and identification of new therapeutic targets...
April 1, 2018: Clinical Medicine: Journal of the Royal College of Physicians of London
https://www.readbyqxmd.com/read/29695106/-bsg-and-mct1-genetic-variants-influence-survival-in-multiple-myeloma-patients
#19
Piotr Łacina, Aleksandra Butrym, Grzegorz Mazur, Katarzyna Bogunia-Kubik
Multiple myeloma (MM) is a haematologic malignancy characterized by the presence of atypical plasma cells. Basigin (BSG, CD147) controls lactate export through the monocarboxylic acid transporter 1 (MCT1, SLC16A1) and supports MM survival and proliferation. Additionally, BSG is implicated in response to treatment with immunomodulatory drugs (thalidomide and its derivatives). We investigated the role of single nucleotide polymorphisms (SNPs) in the gene coding for BSG and SLC16A1 in MM. Following an in silico analysis, eight SNPs (four in BSG and four in SLC16A1 ) predicted to have a functional effect were selected and analyzed in 135 MM patients and 135 healthy individuals...
April 24, 2018: Genes
https://www.readbyqxmd.com/read/29663319/diagnosis-and-therapy-of-genetic-haemochromatosis-review-and-2017-update
#20
EDITORIAL
Edward J Fitzsimons, Jonathan O Cullis, Derrick W Thomas, Emmanouil Tsochatzis, William J H Griffiths
No abstract text is available yet for this article.
May 2018: British Journal of Haematology
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