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https://www.readbyqxmd.com/read/29650946/a-rare-case-of-relapsed-pediatric-acute-promyelocytic-leukemia-with-skin-involvement-by-myeloid-sarcoma
#1
Nathalia Silva Araújo, Claudio José Dos Santos Júnior, Vitória Mikaelly da Silva Gomes, Luiz Arthur Calheiros Leite, Luana Novaes Bomfim, Amanda Katielly Firmino da Silva Gusmão, Maria Jordana Rocha Gomes Alves, Cyndi Myrelle da Silva Barros Romão, Arthur Moacir Costa Sampaio Batinga, Maria Rosa da Silva, Célio Fernando de Sousa Rodrigues
BACKGROUND Acute promyelocytic leukemia (APL) is a very rare leukemia in children. Extramedullary involvement by APL has been reported in between 3-5% of cases, mainly associated with cases of relapse. A rare case of relapse of APL in a 9-year-old child is presented with skin involvement with myeloid sarcoma. CASE REPORT A 9-year-old male child was admitted to the Oncology Service of the hospital complaining of fever, progressive fatigue, oral petechiae with severe bleeding in the oral cavity. Bone marrow examination showed some promyelocytes...
April 13, 2018: American Journal of Case Reports
https://www.readbyqxmd.com/read/29599493/ring-tetramerization-is-required-for-nuclear-body-biogenesis-and-pml-sumoylation
#2
Pengran Wang, Shirine Benhenda, Haiyan Wu, Valérie Lallemand-Breitenbach, Tao Zhen, Florence Jollivet, Laurent Peres, Yuwen Li, Sai-Juan Chen, Zhu Chen, Hugues de Thé, Guoyu Meng
ProMyelocyticLeukemia nuclear bodies (PML NBs) are stress-regulated domains directly implicated in acute promyelocytic leukemia eradication. Most TRIM family members bind ubiquitin E2s and many acquire ligase activity upon RING dimerization. In contrast, PML binds UBC9, the SUMO E2 enzyme. Here, using X-ray crystallography and SAXS characterization, we demonstrate that PML RING tetramerizes through highly conserved PML-specific sequences, which are required for NB assembly and PML sumoylation. Conserved residues implicated in RING dimerization of other TRIMs also contribute to PML tetramer stability...
March 29, 2018: Nature Communications
https://www.readbyqxmd.com/read/29596829/influence-of-apl-therapeutic-drugs-on-nuclear-pore-complex-density-and-integrity
#3
Anna Lång, Alexander Øye, Jens Eriksson, Alexander D Rowe, Emma Lång, Stig Ove Bøe
During cell division, a large number of nuclear proteins are released into the cytoplasm due to nuclear envelope breakdown. Timely nuclear import of these proteins following exit from mitosis is critical for establishment of the G1 nuclear environment. Dysregulation of post-mitotic nuclear import may affect the fate of newly divided stem or progenitor cells and may lead to cancer. Acute promyelocytic leukemia (APL) is a malignant disorder that involves a defect in blood cell differentiation at the promyelocytic stage...
March 26, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29554366/zyh005-a-novel-dna-intercalator-overcomes-all-trans-retinoic-acid-resistance-in-acute-promyelocytic-leukemia
#4
Qingyi Tong, Huijuan You, Xintao Chen, Kongchao Wang, Weiguang Sun, Yufeng Pei, Xiaodan Zhao, Ming Yuan, Hucheng Zhu, Zengwei Luo, Yonghui Zhang
Despite All-trans retinoic acid (ATRA) has transformed acute promyelocytic leukemia (APL) from the most fatal to the most curable hematological cancer, there remains a clinical challenge that many high-risk APL patients who fail to achieve a complete molecular remission or relapse and become resistant to ATRA. Herein, we report that 5-(4-methoxyphenethyl)-[1, 3] dioxolo [4, 5-j] phenanthridin-6(5H)-one (ZYH005) exhibits specific anticancer effects on APL and ATRA-resistant APL in vitro and vivo, while shows negligible cytotoxic effect on non-cancerous cell lines and peripheral blood mononuclear cells from healthy donors...
March 15, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/29550828/a-paediatric-acute-promyelocytic-leukaemia-patient-harbouring-a-cryptic-pml-rara-insertion-due-to-a-complex-structural-chromosome-17-rearrangement
#5
Racha El-Hajj Ghaoui, Luke St Heaps, Dorothy Hung, Sumanth Nagabushan, Catherine Harris, Oksana Mirochnik, Praveen Sharma, Stewart J Kellie, Dale C Wright
Acute promyelocytic leukaemia with PML-RARA fusion is usually associated with the t(15;17)(q24.1;q21.1) translocation but may also arise from complex or cryptic rearrangements. The fusion usually resides on chromosome 15 but occasionally on others. We describe a cryptic PML-RARA fusion within a novel chromosome 17 rearrangement. We performed interphase fluorescence in situ hybridisation (FISH) using a dual-fusion PML-RARA probe, followed by reverse transcriptase-polymerase chain reaction (RT-PCR) for PML-RARA, karyotyping, and metaphase FISH using RARA break-apart, locus-specific, and subtelomere probes for chromosome 17...
March 17, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29535630/multifactorial-modes-of-action-of-arsenic-trioxide-in-cancer-cells-as-analyzed-by-classical-and-network-pharmacology
#6
Mona Dawood, Sami Hamdoun, Thomas Efferth
Arsenic trioxide is a traditional remedy in Chinese Medicine since ages. Nowadays, it is clinically used to treat acute promyelocytic leukemia (APL) by targeting PML/RARA. However, the drug's activity is broader and the mechanisms of action in other tumor types remain unclear. In this study, we investigated molecular modes of action by classical and network pharmacological approaches. CEM/ADR5000 resistance leukemic cells were similar sensitive to As2 O3 as their wild-type counterpart CCRF-CEM (resistance ratio: 1...
2018: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/29530751/rara-and-rarg-gene-downregulation-associated-with-ezh2-mutation-in-acute-promyelocytic-like-morphology-leukemia
#7
Nicoletta Coccaro, Antonella Zagaria, Paola Orsini, Luisa Anelli, Giuseppina Tota, Paola Casieri, Luciana Impera, Angela Minervini, Crescenzio F Minervini, Cosimo Cumbo, Elisa Parciante, Anna Mestice, Mario Delia, Claudia Brunetti, Giorgina Specchia, Francesco Albano
Most Acute Promyelocytic Leukemia (APL) patients express PML-RARA fusion; in rare cases RARA is rearranged with partner genes other than PML. To date, only two patients presenting features similar to APL showing the RARG gene rearrangement have been described. We report an Acute Myeloid Leukemia (AML) patient with morphology resembling APL without involvement of the RARA gene. Molecular and Fluorescent In Situ Hybridization (FISH) analyses excluded PML-RARA fusion and variant rearrangements involving RARA and RARG loci...
March 9, 2018: Human Pathology
https://www.readbyqxmd.com/read/29447373/coupling-the-core-of-the-anticancer-drug-etoposide-to-an-oligonucleotide-induces-topoisomerase-ii-mediated-cleavage-at-specific-dna-sequences
#8
Lorena Infante Lara, Sabine Fenner, Steven Ratcliffe, Albert Isidro-Llobet, Michael Hann, Ben Bax, Neil Osheroff
Etoposide and other topoisomerase II-targeted drugs are important anticancer therapeutics. Unfortunately, the safe usage of these agents is limited by their indiscriminate induction of topoisomerase II-mediated DNA cleavage throughout the genome and by a lack of specificity toward cancer cells. Therefore, as a first step toward constraining the distribution of etoposide-induced DNA cleavage sites and developing sequence-specific topoisomerase II-targeted anticancer agents, we covalently coupled the core of etoposide to oligonucleotides centered on a topoisomerase II cleavage site in the PML gene...
February 13, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/29409083/-acute-promyelocytic-leukemia-a-rare-life-threatening-disease-with-high-healing-chance
#9
Florian Nolte, Eva Lengfelder, Wolf-Karsten Hofmann
The acute promyelocytic leukemia (APL) is a rare disease. However, if diagnosed early and treated immediately high cure rates can be achieved. Signs of hematopoietic insufficiency such as cytopenias or leucocytosis can be present at first presentation of the patients. Moreover, hemorrhagic diatheses due to coagulpathy are present in approximately 80 % of cases and contribute substatially to the high early death rate in APL patients, which has been reported as high as 30 % in population based studies. In case of initial suspicion of APL treatment with all-trans retinoic acid (ATRA) should be initated immediately to reduce the risk of fatal bleeding events and confirmation or exclusion of the PML-RARA transcript should not be awaited before start of ATRA treatment...
February 2018: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/29362482/arsenic-trioxide-promoting-etosis-in-acute-promyelocytic-leukemia-through-mtor-regulated-autophagy
#10
Tao Li, Ruishuang Ma, Yan Zhang, Hongdan Mo, Xiaoyan Yang, Shaoshan Hu, Lixiu Wang, Valerie A Novakovic, He Chen, Junjie Kou, Yayan Bi, Bo Yu, Shaohong Fang, Jinghua Wang, Jin Zhou, Jialan Shi
Despite the high efficacy and safety of arsenic trioxide (ATO) in treating acute promyelocytic leukemia (APL) and eradicating APL leukemia-initiating cells (LICs), the mechanism underlying its selective cytotoxicity remains elusive. We have recently demonstrated that APL cells undergo a novel cell death program, termed ETosis, through autophagy. However, the role of ETosis in ATO-induced APL LIC eradication remains unclear. For this study, we evaluated the effects of ATO on ETosis and the contributions of drug-induced ETosis to APL LIC eradication...
January 23, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29326799/molecular-heterogeneity-in-acute-promyelocytic-leukemia-a-single-center-experience-from-india
#11
Nikhil Rabade, Goutham Raval, Shruti Chaudhary, P G Subramanian, Rohan Kodgule, Swapnali Joshi, Prashant Tembhare, Syed K Hasan, Hasmukh Jain, Manju Sengar, Gaurav Narula, Shripad Banavali, Pratibha Amare Kadam, Dhanalaxmi Shetty, Sumeet Gujral, Nikhil Patkar
Atypical breakpoints and variant APL cases involving alternative chromosomal aberrations are seen in a small subset of acute promyelocytic leukemia (APL) patients. Over seven different partner genes for RARA have been described. Although rare, these variants prove to be a diagnostic challenge and require a combination of advanced cytogenetic and molecular techniques for accurate characterization. Heterogeneity occurs not only at the molecular level but also at clinico-pathological level influencing treatment response and outcome...
2018: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/29299133/domain-retention-in-transcription-factor-fusion-genes-and-its-biological-and-clinical-implications-a-pan-cancer-study
#12
Pora Kim, Leomar Y Ballester, Zhongming Zhao
Genomic rearrangements involving transcription factors (TFs) can form fusion proteins resulting in either enhanced, weakened, or even loss of TF activity. Functional domain (FD) retention is a critical factor in the activity of transcription factor fusion genes (TFFGs). A systematic investigation of FD retention in TFFGs and their outcome (e.g. expression changes) in a pan-cancer study has not yet been completed. Here, we examined the FD retention status in 386 TFFGs across 13 major cancer types and identified 83 TFFGs involving 67 TFs that retained FDs...
December 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/29274134/a-distinct-immunophenotype-identifies-a-subset-of-npm1-mutated-aml-with-tet2-or-idh1-2-mutations-and-improved-outcome
#13
Emily F Mason, Frank C Kuo, Robert P Hasserjian, Adam C Seegmiller, Olga Pozdnyakova
Recent work has identified distinct molecular subgroups of acute myeloid leukemia (AML) with implications for disease classification and prognosis. NPM1 is one of the most common recurrently mutated genes in AML. NPM1 mutations often co-occur with FLT3-ITDs and mutations in genes regulating DNA methylation, such as DNMT3A, TET2, and IDH1/2. It remains unclear whether these genetic alterations are associated with distinct immunophenotypic findings or affect prognosis. We identified 133 cases of NPM1-mutated AML and correlated sequencing data with immunophenotypic and clinical findings...
August 2018: American Journal of Hematology
https://www.readbyqxmd.com/read/29237593/identification-of-novel-recurrent-stat3-rara-fusions-in-acute-promyelocytic-leukemia-lacking-t-15-17-q22-q12-pml-rara
#14
LETTER
Li Yao, Lijun Wen, Nana Wang, Tianhui Liu, Yang Xu, Changgeng Ruan, Depei Wu, Suning Chen
No abstract text is available yet for this article.
February 22, 2018: Blood
https://www.readbyqxmd.com/read/29200671/multiplex-approach-in-classification-diagnosis-and-prognostication-in-acute-myeloid-leukemia-an-experience-from-tertiary-cancer-center-in-south-india
#15
Rachna Khera, Faiq Ahmed, Manasi Chetan Mundada, Sandhya G Devi, Sudha S Murthy, Nambaru Lavanya, Senthil J Rajappa, Krishna Mohan Mallavarapu, A Santa
Introduction: Acute myeloid leukemia (AML) is a heterogeneous group of disorders classified as per FAB subtypes and more recently by WHO by underlying genetic abnormalities. Aims and Objectives: This study aims to analyze the morphology, immunophenotype, cytogenetic and molecular abnormalities in around 200 patients of AML diagnosed over a period of 7 years at our institute and to determine relative frequency of various subtypes (based on FAB and WHO classification)...
July 2017: Indian Journal of Medical and Paediatric Oncology
https://www.readbyqxmd.com/read/29137406/the-forkhead-box-c1-foxc1-transcription-factor-is-downregulated-in-acute-promyelocytic-leukemia
#16
Emiliano Fabiani, Giulia Falconi, Nélida Inés Noguera, Ernestina Saulle, Laura Cicconi, Mariadomenica Divona, Cristina Banella, Alessandra Picardi, Anna Maria Cerio, Letizia Boe, Massimo Sanchez, Elvira Pelosi, Ugo Testa, Francesco Lo-Coco, Maria Teresa Voso
Forkhead box (FOX) genes encode transcription factors, which regulate embryogenesis and play an important role in hematopoietic differentiation and in mesenchymal niche maintenance. Overexpression of the family member FOXC1 has been reported in solid tumors and acute myeloid leukemia (AML). We studied FOXC1 expression and function in acute promyelocytic leukemia (APL) and normal hematopoietic progenitors. FOXC1 mRNA and protein levels were significantly lower in primary marrow samples from 27 APL patients, as compared to samples obtained from 27 patients with other AML subtypes, and 5 normal CD34+ hematopoietic cells...
October 13, 2017: Oncotarget
https://www.readbyqxmd.com/read/29136503/acute-promyelocytic-leukemia-a-paradigm-for-oncoprotein-targeted-cure
#17
REVIEW
Hugues de Thé, Pier Paolo Pandolfi, Zhu Chen
Recent clinical trials have demonstrated that the immense majority of acute promyelocytic leukemia (APL) patients can be definitively cured by the combination of two targeted therapies: retinoic acid (RA) and arsenic. Mouse models have provided unexpected insights into the mechanisms involved. Restoration of PML nuclear bodies upon RA- and/or arsenic-initiated PML/RARA degradation is essential, while RA-triggered transcriptional activation is dispensable for APL eradication. Mutations of the arsenic-binding site of PML/RARA, but also PML, have been detected in therapy-resistant patients, demonstrating the key role of PML in APL cure...
November 13, 2017: Cancer Cell
https://www.readbyqxmd.com/read/29114972/frontline-therapy-of-acute-promyelocytic-leukemia-randomized-comparison-of-atra-and-intensified-chemotherapy-versus-atra-and-anthracyclines
#18
Eva Lengfelder, Dennis Görlich, Daniel Nowak, Karsten Spiekermann, Claudia Haferlach, Utz Krug, Karl-Anton Kreuzer, Jan Braess, Christoph Schliemann, Hans-Walter Lindemann, Heinz A Horst, Xaver Schiel, Michael Flasshove, Anna Hecht, Susanne Schnittger, Stephanie Schneider, Bernhard Wörmann, Wolf-Karsten Hofmann, Wolfgang E Berdel, Eike Bormann, Cristina Sauerland, Thomas Büchner, Wolfgang Hiddemann
OBJECTIVES: Randomized comparison of two treatment strategies in frontline therapy of acute promyelocytic leukemia (APL): all-trans retinoic acid (ATRA) and double induction intensified by high-dose cytosine arabinoside (HD ara-C) (German AMLCG) and therapy with ATRA and anthracyclines (Spanish PETHEMA, LPA99). PATIENTS AND RESULTS: Eighty of 87 adult patients with genetically confirmed APL of all risk groups were eligible. The outcome of both arms was similar: AMLCG vs PETHEMA: hematological complete remission 87% vs 83%, early death 13% vs 17% (P = ...
February 2018: European Journal of Haematology
https://www.readbyqxmd.com/read/29105243/multiplex-fusion-gene-testing-in-pediatric-acute-myeloid-leukemia
#19
Yuka Iijima-Yamashita, Hidemasa Matsuo, Miho Yamada, Takao Deguchi, Nobutaka Kiyokawa, Akira Shimada, Akio Tawa, Hiroyuki Takahashi, Daisuke Tomizawa, Takashi Taga, Akitoshi Kinoshita, Souichi Adachi, Keizo Horibe
BACKGROUND: Gene abnormalities, particularly chromosome rearrangements generating gene fusion, are associated with clinical characteristics and prognosis in pediatric acute myeloid leukemia (AML). Karyotyping is generally performed to enable risk stratification, but the results are not always consistent with those of reverse transcription-polymerase chain reaction (RT-PCR), and more accurate and rapid methods are required. METHODS: A total of 487 samples from de novo AML patients enrolled in the Japanese Pediatric Leukemia/Lymphoma Study Group (JPLSG) AML-05 study (n = 448), and from acute promyelocytic leukemia (APL) patients enrolled in the JPLSG AML-P05 study (n = 39) were available for this investigation...
January 2018: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/29081694/recurrent-fusion-genes-in-leukemia-an-attractive-target-for-diagnosis-and-treatment
#20
REVIEW
Yuhui Wang, Nan Wu, Duo Liu, Yan Jin
INTRODUCTION: Since the first fusion gene was discovered decades ago, a considerable number of fusion genes have been detected in leukemia. The majority of them are generated through chromosomal rearrangement or abnormal transcription. With the development of techniques, high-throughput sequencing method makes it possible to detect fusion genes systematically in multiple human cancers. Owing to their biological significance and tumor-specific expression, some of the fusion genes are attractive diagnostic tools and therapeutic targets...
October 2017: Current Genomics
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