Abstract:
:Fanconi anemia (FA) is the most frequent inherited cause of bone marrow failure (BMF). Most FA patients experience hematopoietic stem cell attrition and cytopenia during childhood, which along with intrinsic chromosomal instability, favor clonal evolution and the frequent emergence in their teens or young adulthood of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). To early identify and further predict bone marrow (BM) clonal progression and enable timely treatment, the follow-up of FA patients includes regular BM morphological and cytogenetic examinations. Allogeneic hematopoietic stem cell transplantation (HSCT) remains the only curative treatment of FA patients with MDS or AML. Although questions remain concerning HSCT itself (including the need for pretransplant chemotherapy, the best conditioning regimen, and the optimal long-term follow-up of such patients especially regarding secondary malignancies), clonal evolution in the absence of significant BM dysplasia and blast cells can be difficult to address in FA patients, for whom the concept of preemptive HSCT is discussed. Illustrated by 3 representative clinical vignettes showing specific features of MDS and AML in FA patients, this paper summarizes our practical approach from diagnosis through treatment in this particular situation.
journal_name
Bloodjournal_title
Bloodauthors
Peffault de Latour R,Soulier Jdoi
10.1182/blood-2016-01-583625subject
Has Abstractpub_date
2016-06-16 00:00:00pages
2971-9issue
24eissn
0006-4971issn
1528-0020pii
blood-2016-01-583625journal_volume
127pub_type
杂志文章相关文献
BLOOD文献大全abstract::The treatment of multiple myeloma is considered a continuously evolving paradigm as a result of the growing availability of new and highly effective drugs, including first- and second-generation proteasome inhibitors, immunomodulatory agents, and monoclonal antibodies. Clinical trials advocate long-term rather than sh...
journal_title:Blood
pub_type: 杂志文章,评审
doi:10.1182/blood-2017-01-725705
更新日期:2017-04-27 00:00:00
abstract::In an effort to develop a clinically useful approach to overcoming P-glycoprotein-mediated multidrug resistance (MDR1), we evaluated combined chemosensitization with verapamil and quinine in a multidrug-resistant (MDR) human myeloma cell line model. In clonogenic assay, verapamil was used at concentrations from 0.1 to...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1991-01-15 00:00:00
abstract::The purpose of the present study was to evaluate the use of the variable regions of the T gamma rearranging gene of the second T cell receptor. Genomic DNA was extracted from leukemic cells of T and B precursor phenotypes and hybridized to probes that detect rearrangement of the V gamma regions. We present data showin...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1988-12-01 00:00:00
abstract::In the current study, we investigated whether the naive, poly I:C or interleukin-2 (IL-2)-induced natural killer (NK)/lymphokine-activated killer (LAK) cells use perforin and/or Fas ligand (FasL) to mediated cytotoxicity. We correlated these findings with the ability of mice to reject syngeneic Fas+ and Fas- tumor cel...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1998-12-01 00:00:00
abstract::The induction of tumor cell differentiation represents an attractive strategy for the treatment of a wide range of malignancies. Differentiation of HL-60 promyelocytic leukemia cells towards neutrophils or monocytes has been shown to induce apoptotic cell death, which is inhibited by bcl-2 over-expression. However, th...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1996-05-01 00:00:00
abstract::Factor V (FV) deficiency is a rare bleeding disorder whose genetic basis has been described in a relatively small number of cases. Among a total of 12 genetic defects reported in severely or moderately severe deficient patients, 3 were missense mutations and in no case was the mechanism underlying the deficiency explo...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2002-06-1928
更新日期:2003-01-01 00:00:00
abstract::Mantle cell lymphoma (MCL) is a clinicopathologic entity that is difficult to diagnose on histopathologic criteria. Approximately 50% to 70% of MCL contain a t(11;14)(q13;q32) translocation involving the cyclin D1 gene. Irrespective of this rearrangement, almost all MCL show overexpression of the cyclin D1 gene at the...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1995-10-01 00:00:00
abstract::The relationship between neutrophil function and the neutrophil antigen, Kx, as well as the linkage of the gene, Xk, with Xg was examined in a kindred with X-linked chronic granulomatous disease. Four of the eight male siblings had chronic granulomatous disease by clinical history and tests of neutrophil function, and...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1981-07-01 00:00:00
abstract::It has been hypothesized that some of the irreversible microrheologic abnormalities of sickle red blood cell (RBC) membranes could result from autoxidative perturbation. To model this possibility, we used micromechanical manipulation to examine the static extensional rigidity and inelastic or plastic behavior of norma...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1990-09-01 00:00:00
abstract::Elevated levels of interleukin 7 (IL-7) have been correlated with various T-cell depletion conditions, including HIV infection, and suggested as an indicator of HIV disease progression (AIDS and death). Here, the assessment of pathogenic simian immunodeficiency virus (SIVmac239) infection in rhesus macaques demonstrat...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2003-03-0874
更新日期:2004-02-01 00:00:00
abstract::To investigate the natural history of stage A chronic lymphocytic leukemia (CLL) we reviewed 84 such patients. Among 74 cases evaluable for disease progression, 22 (29.6%) progressed to more advanced clinical stages (9 to stage B, 13 to stage C); the actuarial estimation of such an event at 4 years was 30% (95% CI: 26...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1991-08-15 00:00:00
abstract::Chronic myelogenous leukemia (CML) is characterized by the continuous proliferation and abnormal circulation of malignant hematopoietic progenitors. This may be related to the unresponsiveness of CML progenitors to beta1 integrin adhesion receptor-mediated inhibition of progenitor proliferation by the marrow microenvi...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1998-05-01 00:00:00
abstract::Leukocyte transendothelial migration (TEM) is a critical event during inflammation. CD47 has been implicated in myeloid cell migration across endothelium and epithelium. CD47 binds to signal regulatory protein (SIRP), SIRPalpha and SIRPgamma. So far, little is known about the role of endothelial CD47 in T-cell TEM in ...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2008-01-134429
更新日期:2008-08-15 00:00:00
abstract::The association of fibroblast growth factor receptor 3 (FGFR3) expression with t(4;14) multiple myeloma (MM) and the demonstration of the transforming potential of this receptor tyrosine kinase (RTK) make it a particularly attractive target for drug development. We report here a novel and highly specific anti-FGFR3-ne...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2005-10-4179
更新日期:2006-05-15 00:00:00
abstract::The B-cell leukemia/lymphoma-2 (BCL-2) family of proteins governs the intrinsic pathway of mitochondrial apoptosis. Dysregulation of BCL-2 has long been known to be a crucial part of the pathophysiology of B-cell lymphomas; however, several early attempts to target this pathway therapeutically were unsuccessful becaus...
journal_title:Blood
pub_type: 杂志文章,评审
doi:10.1182/blood-2017-04-737338
更新日期:2017-08-31 00:00:00
abstract::The proteolytic cleavage and subsequent inactivation of recombinant human factor VIII (rhFVIII) and human factor VIIIa (rhFVIIIa) by recombinant human activated protein C (rAPC) was analyzed in the presence and absence of human protein S and human factor V (FV). Membrane-bound rhFVIIIa spontaneously looses most of its...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1996-06-01 00:00:00
abstract::Recent studies have shown a discrepancy between the level of tissue factor (TF) expression and the level of TF procoagulant activity on the apical and basolateral surface domains of polarized epithelial cells. The present investigation was performed to elucidate possible reasons for the discordant expression of TF and...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1999-09-01 00:00:00
abstract::Nomifensine (Merital, Alival; Hoechst, Frankfurt, FRG), an antidepressant drug, may cause immune hemolytic anemia (IHA) of the so-called immune complex type that is believed to occur by means of an innocent-bystander mechanism. In this report we describe findings that are not consistent with this mechanism in a patien...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1986-12-01 00:00:00
abstract::Measurements of hepatic iron concentration (HIC) are important predictors of transfusional iron burden and long-term outcome in patients with transfusion-dependent anemias. The goal of this work was to develop a readily available, noninvasive method for clinical HIC measurement. The relaxation rates R2 (1/T2) and R2* ...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2004-10-3982
更新日期:2005-08-15 00:00:00
abstract::Previous studies have suggested that, in patients with AL amyloidosis treated with high-dose melphalan and autologous stem-cell transplantation (HDM/SCT), the greatest benefit is seen in those patients achieving a hematologic complete response (CR). We analyzed a series of 421 consecutive patients treated with HDM/SCT...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2011-01-330738
更新日期:2011-10-20 00:00:00
abstract::Stromal cells are believed to regulate lympho-hematopoiesis through direct cell-cell interactions and the release of growth factors. Many questions remain, however, about their lineage derivation and functional heterogeneity. We previously prepared a panel of stromal cell lines from murine spleen and bone marrow and c...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1989-07-01 00:00:00
abstract::The TEL/PDGFbetaR fusion protein is expressed as the consequence of a recurring t(5;12) translocation associated with chronic myelomonocytic leukemia (CMML). Unlike other activated protein tyrosine kinases associated with hematopoietic malignancies, TEL/PDGFbetaR is invariably associated with a myeloid leukemia phenot...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1999-03-01 00:00:00
abstract::P-selectin glycoprotein ligand-1 (PSGL-1) serves as the leukocyte ligand for P-selectin, and many of the structural features of its ectodomain required for interactions with P-selectin have been uncovered. In contrast, the function of the highly conserved PSGL-1 cytoplasmic domain has not been explored. Stable transfe...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood.v99.12.4494
更新日期:2002-06-15 00:00:00
abstract::The human erythrocyte actively phosphorylates and dephosphorylates phosphatidylinositol present in the membrane in an apparent "futile cycle." Recent reports have proposed that this phosphorylation/dephosphorylation cycle is a significant consumer of adenosine-5'-triphosphate (ATP) in the erythrocyte. This study detai...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1985-11-01 00:00:00
abstract::Vascular endothelial-cadherin (VE-cadherin) is a calcium-dependent adhesive molecule, exclusively and constitutively expressed in endothelial cells. Analysis of the VE-cadherin promoter fused to a reporter gene in bovine aortic endothelial cells showed three major functional regions. The proximal region alone (-139, +...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1999-01-01 00:00:00
abstract::A novel deletion in the human beta-globin gene cluster associated with increased levels of fetal hemoglobin (HbF) in adult life was molecularly characterized in a member of a family of Eastern European descent. The phenotype of the deletion, documented in five members of the family, shows mild hypochromia and microcyt...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1994-06-15 00:00:00
abstract::Erdheim-Chester disease (ECD) pathophysiology remains largely unknown. Its treatment is not codified and usually disappointing. Interferon (IFN)-α therapy lacks efficacy for some life-threatening manifestations and has a poor tolerance profile. Because interleukin (IL)-1Ra synthesis is naturally induced after stimulat...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2010-04-279240
更新日期:2010-11-18 00:00:00
abstract::Three Rh-related cDNAs have been isolated from a human bone marrow cDNA library and by polymerase chain reaction (PCR) amplification of human bone marrow and erythroblast mRNAs. They potentially encode a family of Rh protein isoforms that exhibit several unexpected structural properties as compared with the Rh polypep...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1992-08-15 00:00:00
abstract::Autoimmune lymphoproliferative syndrome (ALPS) is characterized by childhood onset of lymphadenopathy, hepatosplenomegaly, autoimmune cytopenias, elevated numbers of double-negative T (DNT) cells, and increased risk of lymphoma. Most cases of ALPS are associated with germline mutations of the FAS gene (type Ia), where...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2010-01-263145
更新日期:2010-06-24 00:00:00
abstract::Latency enables human cytomegalovirus (HCMV) to persist in the hematopoietic cells of infected individuals indefinitely and prevents clearance of the pathogen. Despite its critical importance to the viral infectious cycle, viral mechanisms that contribute to latency have not been identified. We compared the ability of...
journal_title:Blood
pub_type: 临床试验,杂志文章
doi:10.1182/blood-2007-01-070078
更新日期:2007-08-01 00:00:00