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  1 / 359 MEDLINE  
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PMID:28452257
Autor:Boddu PC; Kadia TM
Dirección:a Department of Leukemia , The University of Texas MD Anderson Cancer Center , Houston , TX , USA.
Título:Updates on the pathophysiology and treatment of aplastic anemia: a comprehensive review.
Fuente:Expert Rev Hematol; 10(5):433-448, 2017 05.
ISSN:1747-4094
País de publicación:England
Idioma:eng
Resumen:INTRODUCTION: The past decade or longer has witnessed an acceleration in our understanding of previously developed immune system and clonal evolution mechanisms, and the genesis of more novel concepts of telomere attrition. Many of these concepts are steadily finding their way into translation in various aspects of clinical practice, and provide prospects to improve AA management and inform therapeutic strategy development. In this review, we intend to discuss the pathophysiology and treatments with an emphasis on most recent developments to provide an update on our understanding of disease mechanisms. Areas covered: A literature search was undertaken addressing various aspects of pathophysiology with a focus on the role of immune system repertoire, telomeres and mutational events surrounding AA. We also reviewed upon the temporal evolution of treatment strategies in AA to the contemporary management of today and commented briefly upon the more recently investigated novel therapies and their expanding niche especially in the transplant and salvage setting. Expert commentary: Immune-mediated destruction of hematopoietic stem and progenitor cells, leading to a marrow devoid of hematopoietic elements, and peripheral pancytopenia are the hallmarks of AA. Recent studies have shed light on another facet of the disease - as a clonal disorder characterized by karyotypic abnormalities, genomic instability, telomere attrition, and recurrent somatic mutations reminiscent of myeloid malignancies. Further understanding of this underlying pathophysiology can help in improving prognostication and treatment of this disease.
Tipo de publicación:JOURNAL ARTICLE; REVIEW; RESEARCH SUPPORT, N.I.H., EXTRAMURAL


  2 / 359 MEDLINE  
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PMID:28725989
Autor:Jawhar M; Naumann N; Schwaab J; Baurmann H; Casper J; Dang TA; Dietze L; Döhner K; Hänel A; Lathan B; Link H; Lotfi S; Maywald O; Mielke S; Müller L; Platzbecker U; Prümmer O; Thomssen H; Töpelt K; Panse J; Vieler T; Hofmann WK; Haferlach T; Haferlach C; Fabarius A; Hochhaus A; Cross NCP; Reiter A; Metzgeroth G
Dirección:Department of Hematology and Oncology, University Medical Centre Mannheim, Mannheim, Germany.
Título:Imatinib in myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRB in chronic or blast phase.
Fuente:Ann Hematol; 96(9):1463-1470, 2017 Sep.
ISSN:1432-0584
País de publicación:Germany
Idioma:eng
Resumen:We evaluated clinical characteristics and outcome on imatinib of 22 patients with myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRB. Median age was 49 years (range 20-80), 91% were male. Fifteen different PDGFRB fusion genes were identified. Eosinophilia was absent in 4/19 (21%) cases and only 11/19 (58%) cases had eosinophils ≥1.5×10 /L. On imatinib, 17/17 (100%) patients in chronic phase achieved complete hematologic remission after median 2 months (range 0-13)​. Complete cytogenetic remission and/or complete molecular remission by RT-PCR were achieved in 12/13 (92%) and 12/14 patients (86%) after median 10 (range 3-34) and 19 months (range 7-110), respectively. In patients with blast phase (myeloid, n = 2; lymphoid, n = 3), treatment included combinations of imatinib (n = 5), intensive chemotherapy (n = 3), and/or allogeneic stem cell transplantation (n = 3). All 3 transplanted patients (complex karyotype, n = 2) experienced early relapse. Initially, patients were treated with imatinib 400 mg/day (n = 15) or 100 mg/day (n = 7), the dose was reduced from 400 mg/day to 100 mg/day during follow-up in 9 patients. After a median treatment of 71 months (range 1-135), the 5-year survival rate was 83%; 4/22 (18%) patients died (chronic phase; n = 2; blast phase, n = 2) due to progression (n = 3) or comorbidity while in remission (n = 1). Of note, 3/4 patients had a complex karyotype. In summary, the most important characteristics of myeloid/lymphoid neoplasms with rearrangement of PDGFRB include (a) male predominance, (b) frequent lack of hypereosinophilia,
Tipo de publicación:CLINICAL TRIAL; JOURNAL ARTICLE
Nombre de substancia:8A1O1M485B (Imatinib Mesylate); EC 2.7.10.1 (PDGFRB protein, human); EC 2.7.10.1 (Receptor, Platelet-Derived Growth Factor beta)


  3 / 359 MEDLINE  
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PMID:28314818
Autor:Mankiw C; Park MTM; Reardon PK; Fish AM; Clasen LS; Greenstein D; Giedd JN; Blumenthal JD; Lerch JP; Chakravarty MM; Raznahan A
Dirección:Developmental Neurogenomics Unit, Child Psychiatry Branch, National Institute of Mental Health, Bethesda, Maryland 20892.
Título:Allometric Analysis Detects Brain Size-Independent Effects of Sex and Sex Chromosome Complement on Human Cerebellar Organization.
Fuente:J Neurosci; 37(21):5221-5231, 2017 May 24.
ISSN:1529-2401
País de publicación:United States
Idioma:eng
Resumen:The cerebellum is a large hindbrain structure that is increasingly recognized for its contribution to diverse domains of cognitive and affective processing in human health and disease. Although several of these domains are sex biased, our fundamental understanding of cerebellar sex differences-including their spatial distribution, potential biological determinants, and independence from brain volume variation-lags far behind that for the cerebrum. Here, we harness automated neuroimaging methods for cerebellar morphometrics in 417 individuals to (1) localize normative male-female differences in raw cerebellar volume, (2) compare these to sex chromosome effects estimated across five rare sex (X/Y) chromosome aneuploidy (SCA) syndromes, and (3) clarify brain size-independent effects of sex and SCA on cerebellar anatomy using a generalizable allometric approach that considers scaling relationships between regional cerebellar volume and brain volume in health. The integration of these approaches shows that (1) sex and SCA effects on raw cerebellar volume are large and distributed, but regionally heterogeneous, (2) human cerebellar volume scales with brain volume in a highly nonlinear and regionally heterogeneous fashion that departs from documented patterns of cerebellar scaling in phylogeny, and (3) cerebellar organization is modified in a brain size-independent manner by sex (relative expansion of total cerebellum, flocculus, and Crus II-lobule VIIIB volumes in males) and SCA (contraction of total cerebellar, lobule IV, and Crus I volumes with additional X- or Y-chromosomes; X-specific contraction of Crus II-lobule VIIIB). Our methods and results clarify the shifts in human cerebellar organization that accompany interwoven variations in sex, sex chromosome complement, and brain size. Cerebellar systems are implicated in diverse domains of sex-biased behavior and pathology, but we lack a basic understanding of how sex differences in the human cerebellum are distributed and determined. We leverage a rare neuroimaging dataset to deconvolve the interwoven effects of sex, sex chromosome complement, and brain size on human cerebellar organization. We reveal topographically variegated scaling relationships between regional cerebellar volume and brain size in humans, which (1) are distinct from those observed in phylogeny, (2) invalidate a traditional neuroimaging method for brain volume correction, and (3) allow more valid and accurate resolution of which cerebellar subcomponents are sensitive to sex and sex chromosome complement. These findings advance understanding of cerebellar organization in health and sex chromosome aneuploidy.
Tipo de publicación:JOURNAL ARTICLE


  4 / 359 MEDLINE  
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PMID:28281408
Autor:Zhou DM; Xu YX; Zhang LY; Sun Y; Wang ZY; Yuan YQ; Fu JX
Dirección:a Department of Hematology , The Second Affiliated Hospital of Soochow University , Suzhou , China.
Título:The role of follicular T helper cells in patients with malignant lymphoid disease.
Fuente:Hematology; 22(7):412-418, 2017 Aug.
ISSN:1607-8454
País de publicación:England
Idioma:eng
Resumen:OBJECTIVES: To investigate the dynamic change of follicular T helper cells (T ) in patients with malignant lymphoid disease (MLD) and to explore its clinical significance. METHODS: The dynamic change of T cells, ICOS - and PD-1 T cells at pretreatment and different treatment periods was determined by flow cytometry in 85 MLD patients. Concentration of interleukin 21 (IL-21) was evaluated by ELISA, and the correlation between clinical prognosis and the ratio of T cells was analyzed. RESULTS: Significantly increased ICOS - and PD-1 T cells were found in MLD patients at pretreatment compared to healthy controls. Decreased or even close to normal levels of ICOS - and PD-1 T cells were found at the end of treatment. However, in the patients with progressive disease, high levels of ICOS - and PD-1 T cells were found. Moreover, a significantly increased plasma IL-21 level was found in MLD patients. Negative correlation was found between the level of ICOS -, PD-1 T cells, as well as IL-21 and the prognosis of MLD. CONCLUSIONS: Significantly increased T cell ratios were found in patients with MLD, and decreased T cells ratios could be expected in those treatment-effective patients, which could be used as the therapeutic efficacy index.
Tipo de publicación:JOURNAL ARTICLE
Nombre de substancia:0 (Biomarkers); 0 (Cytokines); 0 (Inflammation Mediators)


  5 / 359 MEDLINE  
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PMID:28236351
Autor:Stevens-Kroef MJ; Olde Weghuis D; ElIdrissi-Zaynoun N; van der Reijden B; Cremers EMP; Alhan C; Westers TM; Visser-Wisselaar HA; Chitu DA; Cunha SM; Vellenga E; Klein SK; Wijermans P; de Greef GE; Schaafsma MR; Muus P; Ossenkoppele GJ; van de Loosdrecht AA; Jansen JH
Dirección:Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Título:Genomic array as compared to karyotyping in myelodysplastic syndromes in a prospective clinical trial.
Fuente:Genes Chromosomes Cancer; 56(7):524-534, 2017 Jul.
ISSN:1098-2264
País de publicación:United States
Idioma:eng
Resumen:Karyotyping is considered as the gold standard in the genetic subclassification of myelodysplastic syndrome (MDS). Oligo/SNP-based genomic array profiling is a high-resolution tool that also enables genome wide analysis. We compared karyotyping with oligo/SNP-based array profiling in 104 MDS patients from the HOVON-89 study. Oligo/SNP-array identified all cytogenetically defined genomic lesions, except for subclones in two cases and balanced translocations in three cases. Conversely, oligo/SNP-based genomic array profiling had a higher success rate, showing 55 abnormal cases, while an abnormal karyotype was found in only 35 patients. In nine patients whose karyotyping was unsuccessful because of insufficient metaphases or failure, oligo/SNP-based array analysis was successful. Based on cytogenetic visible abnormalities as identified by oligo/SNP-based genomic array prognostic scores based on IPSS/-R were assigned. These prognostic scores were identical to the IPSS/-R scores as obtained with karyotyping in 95%-96% of the patients. In addition to the detection of cytogenetically defined lesions, oligo/SNP-based genomic profiling identified focal copy number abnormalities or regions of copy neutral loss of heterozygosity that were out of the scope of karyotyping and fluorescence in situ hybridization. Of interest, in 26 patients we demonstrated such cytogenetic invisible abnormalities. These abnormalities often involved regions that are recurrently affected in hematological malignancies, and may therefore be of clinical relevance. Our findings indicate that oligo/SNP-based genomic array can be used to identify the vast majority of recurrent cytogenetic abnormalities in MDS. Furthermore, oligo/SNP-based array profiling yields additional genetic abnormalities that may be of clinical importance.
Tipo de publicación:CLINICAL TRIAL, PHASE II; JOURNAL ARTICLE; MULTICENTER STUDY; RANDOMIZED CONTROLLED TRIAL


  6 / 359 MEDLINE  
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PMID:28235252
Autor:Takeda T; Iwatsuki S; Hamakawa T; Mizuno K; Kamiya H; Umemoto Y; Kubota H; Kubota Y; Sasaki S; Yasui T
Dirección:Department of Nephro-urology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
Título:Chromosomal anomalies and sperm retrieval outcomes of patients with non-obstructive azoospermia: a case series.
Fuente:Andrology; 5(3):473-476, 2017 May.
ISSN:2047-2927
País de publicación:England
Idioma:eng
Resumen:Some preoperative factors affecting the outcome of microdissection testicular sperm extraction (micro-TESE) have been previously evaluated. However, other than Klinefelter syndrome (KS), no other chromosomal anomalies have been discussed in the context of sperm retrieval outcomes. The objective of this study was to describe chromosomal anomalies and their relationship with sperm retrieval outcomes in patients with non-obstructive azoospermia (NOA). Of the 197 NOA patients whose clinical records were retrospectively reviewed, 144 (73.1%) had normal 46,XY karyotype, 40 (20.3%) had KS (47,XXY), and 13 (6.6%) had other chromosomal anomalies (autosomal in seven cases and sex-chromosomal anomalies in six). Of the seven patients with autosomal anomalies, two had the reportedly normal variant 46,XY,inv(9)(p12;q13). Testicular volume and serum hormone levels (luteinizing hormone, follicle-stimulating hormone, and total testosterone) of the patients with chromosomal anomalies other than KS were comparable to those of the patients with normal karyotype. The sperm retrieval rate of the patients with 46,XY karyotype, KS, or other chromosomal anomalies were 27.1%, 22.5%, and 15.4%, respectively, with no statistically significant difference. However, among the samples collected from the 13 patients with chromosomal anomalies other than KS, only those from the two patients with the normal variant 46,XY,inv(9)(p12;q13) contained spermatozoa. Among our series of NOA patients, the incidence of autosomal anomalies was higher than that generally noted among neonates, which suggests that not only sex-chromosomal anomalies but also autosomal anomalies may affect the development of NOA. Furthermore, our findings suggest that sperm retrieval outcome is more unfavorable in NOA patients with chromosomal anomalies than in NOA patients with 46,XY karyotype or KS, despite the use of micro-TESE.
Tipo de publicación:JOURNAL ARTICLE


  7 / 359 MEDLINE  
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PMID:28212262
Autor:Borges ML; Capela de Matos RR; Amaral BD; Soares-Ventura EM; Leite EP; Silva MO; Cornélio MT; Silva ML; Liehr T; Marques-Salles TD
Dirección:*Pediatric Oncohematology Center, Hospital Oswaldo Cruz/Post Graduation Program, Faculty of Medical Sciences †Biologic Sciences Institute, Pernambuco University, Recife/PE ‡Cytogenetics Department, Bone Marrow Unit, National Cancer Institute, Rio de Janeiro/RJ, Brazil §Institute of Human Genetics, Jena University Hospital, Jena, Germany.
Título:Molecular Cytogenetic Approach to Characterize Novel and Cryptic Chromosome Abnormalities in Childhood Myeloid Malignances of Fanconi Anemia.
Fuente:J Pediatr Hematol Oncol; 39(2):e85-e91, 2017 Mar.
ISSN:1536-3678
País de publicación:United States
Idioma:eng
Resumen:Myeloid malignancies can be either primary or secondary, whether or not a specific cause can be determined. Fanconi anemia (FA), a rare constitutional bone marrow failure, usually presents an increased possibility of clonal evolution, due to the increase in chromosomal instability, TP53 activation, and cell death. The evolution of FA may include aplastic anemia by the progressive failure of the bone marrow and myelod neoplasias, such as acute myeloid leukemia and myelodysplastic syndrome. Chromosome abnormalities, particularly of chromosomes, 1, 3, and 7, during the aplastic phase of the disease are predictive of evolution to acute myeloid leukemia/myelodysplastic syndrome. Cytogenetic studies are indispensable to characterize chromosome abnormalities, and thus an important part of the clinical management, and for planning of therapeutic interventions. Here, clinical data and outcomes of 4 FA, 3 of them with myeloid malignances and 1 asymptomatic, and detailed characterization of their chromosome abnormalities using cytogenetics techniques are described.
Tipo de publicación:CASE REPORTS; JOURNAL ARTICLE


  8 / 359 MEDLINE  
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PMID:28130858
Autor:Valli R; De Paoli E; Nacci L; Frattini A; Pasquali F; Maserati E
Dirección:Human and Medical Genetics, Department of Clinical and Experimental Medicine, University of Insubria, Varese, Italy.
Título:Novel recurrent chromosome anomalies in Shwachman-Diamond syndrome.
Fuente:Pediatr Blood Cancer; 64(8), 2017 Aug.
ISSN:1545-5017
País de publicación:United States
Idioma:eng
Resumen:BACKGROUND: Two chromosome anomalies are frequent in the bone marrow (BM) of patients with Shwachman-Diamond syndrome (SDS): an isochromosome of the long arm of chromosome 7, i(7)(q10), and an interstitial deletion of the long arm of chromosome 20, del(20)(q). These anomalies are associated with a lower risk of developing myelodysplasia (MDS) and/or acute myeloid leukemia. The chromosome anomalies may be due to an SDS-specific karyotype instability, reflected also by anomalies that are not clonal, but found in single cells in the BM or in peripheral blood (PB). PROCEDURE: Starting in 1999, we have monitored the cytogenetic picture of a cohort of 91 Italian patients with SDS by all suitable cytogenetic and molecular methods. RESULTS: Here, we report clonal chromosome anomalies that are different from the aforementioned, as well as changes found in single cells in BM/PB of the same patients. CONCLUSIONS: Some of the newly recognized clonal anomalies in BM reported here are recurrent, especially unbalanced structural anomalies of chromosome 7, a further complex rearrangement of the del(20)(q) with duplicated and deleted portions, and an unbalanced translocation t(3;6), with partial trisomy of the long arm of chromosome 3 and partial monosomy of the long arm of chromosome 6. Firm conclusions on the possible prognostic relevance of these anomalies would require further study with larger patient cohorts, but our data are sufficient to suggest that these patients necessitate more frequent cytogenetic monitoring. The results on anomalies found in single cells confirm the presence of an SDS-specific karyotype instability.
Tipo de publicación:JOURNAL ARTICLE


  9 / 359 MEDLINE  
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PMID:28119329
Autor:Bochtler T; Granzow M; Stölzel F; Kunz C; Mohr B; Kartal-Kaess M; Hinderhofer K; Heilig CE; Kramer M; Thiede C; Endris V; Kirchner M; Stenzinger A; Benner A; Bornhäuser M; Ehninger G; Ho AD; Jauch A; Krämer A; Study Alliance Leukemia Investigators
Dirección:Clinical Cooperation Unit Molecular Hematology/Oncology, German Cancer Research Center.
Título:Marker chromosomes can arise from chromothripsis and predict adverse prognosis in acute myeloid leukemia.
Fuente:Blood; 129(10):1333-1342, 2017 Mar 09.
ISSN:1528-0020
País de publicación:United States
Idioma:eng
Resumen:Metaphase karyotyping is an established diagnostic standard in acute myeloid leukemia (AML) for risk stratification. One of the cytogenetic findings in AML is structurally highly abnormal marker chromosomes. In this study, we have assessed frequency, cytogenetic characteristics, prognostic impact, and underlying biological origin of marker chromosomes. Given their inherent gross structural chromosomal damage, we speculated that they may arise from chromothripsis, a recently described phenomenon of chromosome fragmentation in a single catastrophic event. In 2 large consecutive prospective, randomized, multicenter, intensive chemotherapy trials (AML96, AML2003) from the Study Alliance Leukemia, marker chromosomes were detectable in 165/1026 (16.1%) of aberrant non-core-binding-factor (CBF) karyotype patients. Adverse-risk karyotypes displayed a higher frequency of marker chromosomes (26.5% in adverse-risk, 40.3% in complex aberrant, and 41.2% in abnormality(17p) karyotypes, < .0001 each). Marker chromosomes were associated with a poorer prognosis compared with other non-CBF aberrant karyotypes and led to lower remission rates (complete remission + complete remission with incomplete recovery), inferior event-free survival as well as overall survival in both trials. In multivariate analysis, marker chromosomes independently predicted poor prognosis in the AML96 trial ≤60 years. As detected by array comparative genomic hybridization, about one-third of marker chromosomes (18/49) had arisen from chromothripsis, whereas this phenomenon was virtually undetectable in a control group of marker chromosome-negative complex aberrant karyotypes (1/34). The chromothripsis-positive cases were characterized by a particularly high degree of karyotype complexity, mutations, and dismal prognosis. In conclusion, marker chromosomes are indicative of chromothripsis and associated with poor prognosis per se and not merely by association with other adverse cytogenetic features.
Tipo de publicación:JOURNAL ARTICLE; MULTICENTER STUDY; RANDOMIZED CONTROLLED TRIAL
Nombre de substancia:0 (Biomarkers, Tumor)


  10 / 359 MEDLINE  
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PMID:28099271
Autor:Blum S; Greve G; Lübbert M
Dirección:aService and Central Laboratory of Hematology, CHUV, University Hospital of Lausanne, Lausanne, Switzerland bDivision of Hematology, Oncology and Stem Cell Transplantation, Department of Internal Medicine, Faculty of Medicine, University of Freiburg Medical Center cFaculty of Biology, University of Freiburg dDKTK, German Consortium for Translational Cancer Research, Freiburg, Germany.
Título:Innovative strategies for adverse karyotype acute myeloid leukemia.
Fuente:Curr Opin Hematol; 24(2):89-98, 2017 Mar.
ISSN:1531-7048
País de publicación:United States
Idioma:eng
Resumen:PURPOSE OF REVIEW: Adverse karyotype acute myeloid leukemia is a disease particularly of older patients, but also observed in younger patients. Despite all efforts, standard chemotherapy is still generally applied in fit patients, as already for decades, and for nearly all different subtypes of acute myeloid leukemia. Lack of more specifically targeted therapy and the often older age of the patients are complicating treatment, and in the subgroup of patients achieving a complete remission, the strikingly high frequency of relapse is a characteristic of this disease. This review aims to give an overview of current treatment approaches as well as emerging therapies. RECENT FINDINGS: Currently, the approach of a targeted therapy specific to the genetic and/or epigenetic aberrations detected in the individual patient is still not possible, and a 'one treatment fits all' course of action is still used, with allografting as curative consolidation. However, first immunotherapeutic approaches are emerging as treatment options and first phase 1 and 2 studies are described. SUMMARY: Treatment of acute myeloid leukemia with adverse karyotype is still not individualized, most treatment options currently not being curative. This can change in the near future, but recent findings will have to be implemented into larger phase 3 studies before being standard of care.
Tipo de publicación:JOURNAL ARTICLE; REVIEW



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