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https://www.readbyqxmd.com/read/28212566/genetic-characterization-of-polish-ccrcc-patients-somatic-mutation-analysis-of-pbrm1-bap1-and-kdmc5-genomic-snp-array-analysis-in-tumor-biopsy-and-preliminary-results-of-chromosome-aberrations-analysis-in-plasma-cell-free-dna
#1
Katarzyna Kluzek, Malgorzata I Srebniak, Weronika Majer, Agnieszka Ida, Tomasz Milecki, Kinga Huminska, Robert M van der Helm, Adrian Silesian, Tomasz M Wrzesinski, Jacek Wojciechowicz, Berna H Beverloo, Zbigniew Kwias, Hans A R Bluyssen, Joanna Wesoly
BACKGROUND: Mutation analysis and cytogenetic testing in clear cell renal cell carcinoma (ccRCC) is not yet implemented in a routine diagnostics of ccRCC. MATERIAL AND METHODS: We characterized the chromosomal alterations in 83 ccRCC tumors from Polish patients using whole genome SNP genotyping assay. Moreover, the utility of next generation sequencing of cell free DNA (cfDNA) in patients plasma as a potential tool for non-invasive cytogenetic analysis was tested...
February 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28194057/clinical-characteristics-and-prognosis-of-167-cases-of-acute-erythroleukemia
#2
Zhi-Qiang Ma, Ji-Hong Pan, Da-Xin Jing, Chong-Yan Xu
To observe the biological characteristic and the prognoses in patients with acute erythroleukemia (AEL). The results of 167 patients with newly diagnosed AEL, from January 2004 and June 2014 in the department of Hematology, Shandong Province Chinese Medicine Hospital, were reviewed by morphology, immunology, cytogenetics, molecular biology. Flow cytometry analysis indicated that CD13 (96.1 %), CD33 (95.1 %), CD117 (87.4 %) and CD34 (79.4 %) were highly expressed in AEL. 56 of 148 (37.8 %) AEL patients had a variety of cytogenetic abnormalities, 27 of 148 (18...
March 2017: Indian Journal of Hematology & Blood Transfusion
https://www.readbyqxmd.com/read/28192601/lenalidomide-use-in-myelodysplastic-syndromes-insights-into-the-biologic-mechanisms-and-clinical-applications
#3
REVIEW
Maximilian Stahl, Amer M Zeidan
Myelosysplastic syndromes (MDS) include a heterogeneous group of clonal myeloid neoplasms characterized by ineffective hematopoiesis leading to blood cytopenias and a variable risk of progression into acute myeloid leukemia (AML). Although the hypomethylating agent azacitidine prolongs survival among patients with higher risk (HR)-MDS compared with conventional care, no drug has been shown conclusively to prolong survival or delay progression to AML among patients with lower-risk MDS (LR-MDS). Lenalidomide is the drug with the most impressive clinical activity in the subset of anemic LR-MDS patients who harbor a deletion of the long arm of chromosome 5 (5q-), where it leads to high rates of transfusion independence and cytogenetic responses...
February 13, 2017: Cancer
https://www.readbyqxmd.com/read/28184031/outcome-of-patients-treated-for-myelodysplastic-syndromes-without-deletion-5q-after-failure-of-lenalidomide-therapy
#4
Thomas Prebet, Andrea Toma, Thomas Cluzeau, Mikkael A Sekeres, Norbert Vey, Sophie Park, Najla Al Ali, Marie M Sugrue, Rami Komrokji, Pierre Fenaux, Steven D Gore
Anemia is a key survival prognostic factor in lower-risk myelodysplastic syndromes (MDS). Lenalidomide (LEN) can correct anemia in 25% of MDS patients without deletion 5q (del5q). As this therapy will inevitably fail, understanding the outcome of these patients will facilitate development of subsequent treatment strategies. To answer this question, an international retrospective study focused on LEN-treated lower-risk, non-del5q, MDS patients was performed. We analyzed the overall survival after LEN failure, its prognostic factors and the impact of post LEN treatment options...
February 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/28178280/knockdown-of-hspa9-induces-tp53-dependent-apoptosis-in-human-hematopoietic-progenitor-cells
#5
Tuoen Liu, Kilannin Krysiak, Cara Lunn Shirai, Sanghyun Kim, Jin Shao, Matthew Ndonwi, Matthew J Walter
Myelodysplastic syndromes (MDS) are the most common adult myeloid blood cancers in the US. Patients have increased apoptosis in their bone marrow cells leading to low peripheral blood counts. The full complement of gene mutations that contribute to increased apoptosis in MDS remains unknown. Up to 25% of MDS patients harbor and acquired interstitial deletion on the long arm of chromosome 5 [del(5q)], creating haploinsufficiency for a large set of genes including HSPA9. Knockdown of HSPA9 in primary human CD34+ hematopoietic progenitor cells significantly inhibits growth and increases apoptosis...
2017: PloS One
https://www.readbyqxmd.com/read/28146062/high-level-%C3%AE-glutamyl-hydrolase-ggh-expression-is-linked-to-poor-prognosis-in-erg-negative-prostate-cancer
#6
Nathaniel Melling, Masoud Rashed, Cornelia Schroeder, Claudia Hube-Magg, Martina Kluth, Dagmar Lang, Ronald Simon, Christina Möller-Koop, Stefan Steurer, Guido Sauter, Frank Jacobsen, Franziska Büscheck, Corinna Wittmer, Till Clauditz, Till Krech, Maria Christina Tsourlakis, Sarah Minner, Hartwig Huland, Markus Graefen, Lars Budäus, Imke Thederan, Georg Salomon, Thorsten Schlomm, Waldemar Wilczak
γ-glutamyl-hydrolase (GGH) is a ubiquitously-expressed enzyme that regulates intracellular folate metabolism for cell proliferation, DNA synthesis, and repair. Employing GGH immunohistochemistry on a tissue microarray with 12,427 prostate cancers, we found that GGH expression was negative to low in normal prostate epithelium, whereas 88.3% of our 10,562 interpretable cancers showed GGH expression. GGH staining was considered as low intensity in 49.6% and as high intensity in 38.6% of cancers. High GGH expression was linked to the TMPRSS2:ERG-fusion positive subset of cancers (p < 0...
January 29, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28102719/pregnancy-and-delivery-in-women-with-spinal-muscular-atrophy
#7
Bakri H Elsheikh, Xiaoli Zhang, Kathryn J Swoboda, Sharon Chelnick, Sandra P Reyna, Stephen J Kolb, John T Kissel
OBJECTIVES: To expand the limited available knowledge about pregnancy and delivery in women with spinal muscular atrophy using a cohort of genetically proven SMA patients form USA. METHODS: This was a cross-sectional questionnaire-based study. We mailed questionnaires to 58 women with confirmed SMA. RESULTS: Thirty-two women responded, reporting 35 pregnancies, including 19 women with at least one pregnancy. In this cohort, preterm labor and delivery by cesarean section were more common in mothers with SMA particularly SMA type 2...
January 19, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28100265/allogeneic-stem-cell-transplantation-in-adult-patients-with-acute-myeloid-leukaemia-and-17p-abnormalities-in-first-complete-remission-a-study-from-the-acute-leukemia-working-party-alwp-of-the-european-society-for-blood-and-marrow-transplantation-ebmt
#8
Xavier Poiré, Myriam Labopin, Johan Maertens, Ibrahim Yakoub-Agha, Didier Blaise, Norbert Ifrah, Gérard Socié, Tobias Gedde-Dhal, Nicolaas Schaap, Jan J Cornelissen, Stéphane Vigouroux, Jaime Sanz, Lucienne Michaux, Jordi Esteve, Mohamad Mohty, Arnon Nagler
BACKGROUND: Acute myeloid leukaemia (AML) with 17p abnormalities (abn(17p)) carries a very poor prognosis due to high refractoriness to conventional chemotherapy, and allogeneic stem cell transplantation (allo-SCT) appears as the only potential curative option. METHODS: To address outcomes after allo-SCT in patients with abn(17p), we retrospectively analysed de novo or secondary AML undergoing SCT between 2000 and 2013 from the EBMT registry. RESULTS: One hundred thirty-nine patients with confirmed abn(17p) have been selected...
January 18, 2017: Journal of Hematology & Oncology
https://www.readbyqxmd.com/read/28081176/radiation-induced-apoptosis-of-murine-bone-marrow-cells-is-independent-of-early-growth-response-1-egr1
#9
Karine Z Oben, Beth W Gachuki, Sara S Alhakeem, Mary K McKenna, Ying Liang, Daret K St Clair, Vivek M Rangnekar, Subbarao Bondada
An understanding of how each individual 5q chromosome critical deleted region (CDR) gene contributes to malignant transformation would foster the development of much needed targeted therapies for the treatment of therapy related myeloid neoplasms (t-MNs). Early Growth Response 1 (EGR1) is a key transcriptional regulator of myeloid differentiation located within the 5q chromosome CDR that has been shown to regulate HSC (hematopoietic stem cell) quiescence as well as the master regulator of apoptosis-p53. Since resistance to apoptosis is a hallmark of malignant transformation, we investigated the role of EGR1 in apoptosis of bone marrow cells; a cell population from which myeloid malignancies arise...
2017: PloS One
https://www.readbyqxmd.com/read/28072603/dyserythropoiesis-of-myelodysplastic-syndromes
#10
Carine Lefèvre, Sabrina Bondu, Salomé Le Goff, Olivier Kosmider, Michaela Fontenay
PURPOSE OF REVIEW: Myelodysplastic syndromes (MDS) are heterogeneous diseases of the hematopoietic stem cell in the elderly. Anemia is the main symptom that mostly correlates with dysplastic erythropoiesis in the bone marrow. We will review the recent advances in understanding the diverse mechanisms of dyserythropoiesis. RECENT FINDINGS: Dyserythropoiesis defined as 10% dysplastic erythroid cells in the bone marrow is found in more than 80% of early MDS. Immature erythroblasts accumulate at the expense of mature erythroblasts due to differentiation arrest and apoptosis...
January 7, 2017: Current Opinion in Hematology
https://www.readbyqxmd.com/read/28052942/refractory-primary-immune-thrombocytopenia-with-subsequent-del-5q-mds-complete-remission-of-both-after-lenalidomide
#11
Thomas Bech Mortensen, Henrik Frederiksen, Claus Werenberg Marcher, Birgitte Preiss
A patient with refractory primary immune thrombocytopenia (ITP) characterised by severe skin and mucosal bleedings was treated with several ITP-directed therapies including cyclophosphamide. He later developed therapy-related del(5q) myelodysplastic syndrome with no dysplastic morphological features in bone marrow. He remained severely thrombocytopenic, which suggests ongoing immune mediated platelet destruction. After two 3 week cycles of low-dose lenalidomide, complete cytogenetic remission and complete normalisation of platelet count were observed...
January 4, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28034993/lenalidomide-combined-with-intensive-chemotherapy-in-acute-myeloid-leukemia-and-higher-risk-myelodysplastic-syndrome-with-5q-deletion-results-of-a-phase-ii-study-by-the-groupe-francophone-des-myelodysplasies
#12
Lionel Ades, Thomas Prebet, Aspasia Stamatoullas, Christian Recher, Romain Guieze, Emmanuel Raffoux, Krimo Bouabdallah, Mathilde Hunault, Eric Wattel, Laure Stalnikiewicz, Andrea Toma, Herve' Dombret, Nobert Vey, Marie Sebert, Claude Gardin, Cendrine Chaffaut, Sylvie Chevret, Pierre Fenaux
Patients with acute myeloblastic leukemia or higher risk myelodysplastic syndromes with 5q deletion (generally within complex karyotype) respond poorly to intensive chemotherapy and have very poor survival. In this population, we evaluated escalating doses of lenalidomide combined with IC in a phase II study (NCT00885508) Treatment consisted of daunorubicin (45 mg/m2/d1-3 in cohort 1, escalated to 60mg/m2/1-3 in cohorts2 and 3) combined with AraC (200mg/m2/ d1-7) and lenalidomide (10mg/d1-21 in cohorts1 and 2, escalated to 25mg/d1-21 in cohort 3)...
December 29, 2016: Haematologica
https://www.readbyqxmd.com/read/28031539/recurrent-genetic-defects-on-chromosome-5q-in-myeloid-neoplasms
#13
Naoko Hosono, Hideki Makishima, Reda Mahfouz, Bartlomiej Przychodzen, Kenichi Yoshida, Andres Jerez, Thomas LaFramboise, Chantana Polprasert, Michael J Clemente, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Masashi Sanada, Edward Cui, Amit K Verma, Michael A McDevitt, Alan F List, Yogen Saunthararajah, Mikkael A Sekeres, Jacqueline Boultwood, Seishi Ogawa, Jaroslaw P Maciejewski
BACKGROUND: Deletion of chromosome 5q (del(5q)) is the most common karyotypic abnormality in myeloid neoplasms. MATERIALS AND METHODS: To define the pathogenic molecular features associated with del(5q), next-generation sequencing was applied to 133 patients with myeloid neoplasms (MDS; N = 69, MDS/MPN; N = 5, sAML; N = 29, pAML; N = 30) with del(5q) as a sole abnormally or a part of complex karyotype and results were compared to molecular features of patients diploid for chr5...
January 24, 2017: Oncotarget
https://www.readbyqxmd.com/read/28024515/-disorders-of-ribosomal-proteins-and-related-hematologic-diseases-review
#14
Yue-Kun Qi, Ling-Yun Wu
Ribosomal proteins are key elements of protein synthesis machinery, ribosome. Besides the essential role in ribosome assembly and protein synthesis, there are lots of extraribosomal functions for ribosomal proteins, ranging from regulating cell proliferation and apoptosis to mediating DNA repair, cellular development and differentiation. Based on the typical features of hematologic system, the ribosomal proteins are related with many hematologic diseases, such as Diamond-Blackfan anemia, 5q- syndrome. In this review, the recent research progress on extraribosomal functions and related hematologic diseases are summarised...
December 2016: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/28018438/interstitial-deletion-of-5q33-3q35-1-in-a-boy-with-severe-mental-retardation
#15
Jin Hwan Lee, Hyo Jeong Kim, Jung Min Yoon, Eun Jung Cheon, Jae Woo Lim, Kyong Og Ko, Gyung Min Lee
Constitutional interstitial deletions of the long arm of chromosome 5 (5q) are quite rare, and the corresponding phenotype is not yet clearly delineated. Severe mental retardation has been described in most patients who present 5q deletions. Specifically, the interstitial deletion of chromosome 5q33.3q35.1, an extremely rare chromosomal aberration, is characterized by mental retardation, developmental delay, and facial dysmorphism. Although the severity of mental retardation varies across cases, it is the most common feature described in patients who present the 5q33...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28006840/copy-number-variations-in-dcc-18q-and-erbb2-17q-are-associated-with-disease-free-survival-in-microsatellite-stable-colon-cancer
#16
David Sefrioui, Thomas Vermeulin, France Blanchard, Caroline Chapusot, Ludivine Beaussire, Laura Armengol-Debeir, Richard Sesboué, Alice Gangloff, Mohamed Hebbar, Marie-Christine Copin, Estelle Houivet, Lilian Schwarz, Florian Clatot, Jean-Jacques Tuech, Jacques Bénichou, Laurent Martin, Anne-Marie Bouvier, Jean-Christophe Sabourin, Nasrin Sarafan-Vasseur, Thierry Frébourg, Côme Lepage, Pierre Michel, Frédéric Di Fiore
We conducted a prospective study to assess the prognostic impact of selected copy number variations (CNVs) in Stage II-III microsatellite stable (MSS) colon cancer. A total of 401 patients were included from 01/2004 to 01/2009. The CNVs in 8 selected target genes, DCC/18q, EGFR/7p, TP53/17p, BLK/8p, MYC/8q, APC/5q, ERBB2/17q and STK6/20q, were detected using a quantitative multiplex polymerase chain reaction of short fluorescent fragment (QMPSF) method. The primary end-point was the impact of the CNVs on the 4-year disease-free survival (DFS)...
April 1, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/27994837/treatment-of-refractory-anemia-with-ring-sideroblasts-associated-with-marked-thrombocytosis-with-lenalidomide-in-a-patient-testing-negative-for-5q-deletion-and-jak2-v617f-and-mpl-w515k-l-mutations
#17
Ryan Keen, Jeremy Pantin, Natasha Savage, Paul M Dainer
Refractory anemia with ring sideroblasts associated with marked thrombocytosis (RARS-T) is a hematologic malignancy that often results in transfusion dependency and a hypercoagulable state. This rare disease currently lacks formal guidelines for treatment; however, various case reports have demonstrated efficacy in the use of lenalidomide. This immunomodulatory drug has shown promise in patients with 5q deletions, with reports of achieving transfusion independence and normalization of platelet counts. Herein we present the case of a 68-year-old African American woman with RARS-T who tested negative for 5q deletion and JAK2 V617F and MPL W515K/L mutations...
November 2, 2016: Hematology Reports
https://www.readbyqxmd.com/read/27970427/utility-by-treatment-line-in-multiple-myeloma-analysis-of-over-9000-eq-5q-3l-questionnaires-from-the-emmos-registry
#18
A J Hatswell, C Couturier, T Ito
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27967292/the-role-of-p53-in-myelodysplastic-syndromes-and-acute-myeloid-leukemia-molecular-aspects-and-clinical-implications
#19
Ling Zhang, Kathy L McGraw, David A Sallman, Alan F List
TP53 gene mutations occurring in patients with myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) are associated with high-risk karyotypes including 17p abnormalities, monosomal and complex cytogenetics. TP53 mutations in these disorders portend rapid disease progression and resistance to conventional therapeutics. Notably, the size of the TP53 mutant clone as measured by mutation allele burden is directly linked to overall survival (OS) confirming the importance of p53 as a negative prognostic variable...
December 14, 2016: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/27923497/in-vivo-anti-inflammatory-activity-and-docking-study-of-newly-synthesized-benzimidazole-derivatives-bearing-oxadiazole-and-morpholine-rings
#20
Ankita Rathore, Raja Sudhakar, Mohamed Jawed Ahsan, Abuzer Ali, Naidu Subbarao, Surender Singh Jadav, Sadiq Umar, M Shahar Yar
In search of potential therapeutics for inflammatory disease, we report herein the synthesis, characterization and anti-inflammatory activities of a new series of 1-{(5-substituted-1,3,4-oxadiazol-2-yl)methyl}-2-(morpholinomethyl)-1H-benzimidazoles (5a-r). The anti-inflammatory activity of the compounds was evaluated using carrageenan induced rat paw edema test. Some compounds showed excellent anti-inflammatory activity in carrageenan induced rat paw edema test. 1-{(5-(2-Chlorophenyl)-1,3,4-oxadiazol-2-yl)methyl}-2-(morpholinomethyl)-1H-benzimidazole (5g) showed maximum anti-inflammatory (74...
November 29, 2016: Bioorganic Chemistry
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