Abstract：
:Large scale sequencing projects over the past 2 decades have led to the identification of many common genomic alterations in hematolymphoid neoplasms, some of which with diagnostic, therapeutic, and prognostic implications [1-3]. Although these alterations can be tested individually with high sensitivity and specificity using dedicated single gene tests, it is increasingly impractical and costly to test them separately as the number of alterations grows. Instead, multiplex testing platforms that can test multiple targets in a specimen have been developed. Among these platforms, massively parallel sequencing technologies (so-called next-generation sequencing [NGS] [4]) prove to be most versatile and is increasingly being used to build tests to meet the clinical testing need. In hematolymphoid neoplasms, the early incorporation of molecular findings into the diagnostic criteria by WHO [5] has further accelerated the adoption of NGS-based tests in routine clinical practice. This article focuses on what is used in the clinical diagnostic laboratories today and is not intended to be a review of the NGS technology or its future direction. Following discussion of the 2 families of sequencing instruments from Illumina and Thermo Fisher and 3 target enrichment methods, aspects of the analysis and report of NGS results that is clinically relevant are discussed.
journal_name
Semin Hematoljournal_title
Seminars in hematologyauthors
Kuo FCdoi
10.1053/j.seminhematol.2018.05.006subject
Has Abstractpub_date
2019-01-01 00:00:00pages
2-6issue
1eissn
0037-1963issn
1532-8686pii
S0037-1963(18)30030-1journal_volume
56pub_type
杂志文章,评审abstract：:Macrocytic anemia, defined as a mean cell volume (MCV) ≥100 fL in adults, has a narrow differential diagnosis that requires evaluation of the peripheral blood smear as well as additional laboratory testing taken in conjunction with clinical information that includes patient history and physical examination findings. T...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：10.1053/j.seminhematol.2015.06.001
更新日期：2015-10-01 00:00:00
abstract：:Mouse models of transplantation have been indispensable to the development of bone marrow transplantation (BMT). Their role in the generation of basic science knowledge is invaluable and is subject to discussion below. However, this article focuses on the direct role and relevance of mouse models towards the clinical ...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：10.1053/j.seminhematol.2013.03.026
更新日期：2013-04-01 00:00:00
abstract：:The successful clinical development of thalidomide, bortezomib, and lenalidomide not only transformed the therapeutic management of multiple myeloma (MM) but also catalyzed a renewed interest in the development of additional classes of novel agents for this disease. This review focuses on a series of new therapeutics ...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：10.1053/j.seminhematol.2009.02.003
更新日期：2009-04-01 00:00:00
abstract：:While cure rates of over 80% are achieved in contemporary pediatric acute lymphoblastic leukemia (ALL) protocols, most adults with ALL succumb to their disease, and little progress has been made in the treatment of refractory and relapsed ALL. Moreover, the burden of therapy is high in a significant number of newly di...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：10.1053/j.seminhematol.2008.09.009
更新日期：2009-01-01 00:00:00
abstract：:Most of the major advances in thrombosis research have occurred in the last 50 years, reflecting progress in biomedical sciences and clinical trials methodology. Improved understanding of the mechanisms of thrombogenesis has led to the discovery of a plethora of new antithrombotic agents that target many of the key st...
journal_title：Seminars in hematology
pub_type： 历史文章,杂志文章,评审
doi：
更新日期：1999-10-01 00:00:00
abstract：:The inhibitor titer is the most important clinical measurement in inhibitor patients, and the Nijmegen method is preferable to the original and well-established Bethesda assay for this purpose; however, both methods have high inter-laboratory variability. Monitoring inhibitor patients after treatment with bypassing ag...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：10.1053/j.seminhematol.2008.03.002
更新日期：2008-04-01 00:00:00
abstract：:CD59 and decay-accelerating factor (DAF) are glycosylphosphatidylinositol (GPI)-anchored complement regulatory proteins critical for regulating complement activation on the host cell surface. Defective expressions of CD59 or DAF caused by mutations in the genes coding for these proteins or genes involved in the biosyn...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：10.1053/j.seminhematol.2018.04.004
更新日期：2018-07-01 00:00:00
abstract：:This report suggests modest changes in the criteria used for the diagnosis of ET and allows tentative recommendations concerning therapy. As outlined in Table I, we believe that absent stainable marrow iron does not necessarily indicate iron deficiency in these patients and that the serum ferritin and RBC mean corpusc...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：
更新日期：1997-01-01 00:00:00
abstract：:Because optimal management of iron chelation therapy in patients with sickle cell disease and transfusional iron overload requires accurate determination of the magnitude of iron excess, a variety of techniques for evaluating iron overload are under development, including measurement of serum ferritin iron levels, x-r...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：10.1016/s0037-1963(01)90059-9
更新日期：2001-01-01 00:00:00
abstract：:Chronic myeloid leukemia (CML) is probably the best understood human malignancy at the molecular level, but among the hardest to explain to patients concerning appropriate treatment options. At present, we do not know the long-term outcome of promising new therapies such as the tyrosine kinase inhibitor imatinib mesyl...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：10.1016/s0037-1963(01)90116-7
更新日期：2001-07-01 00:00:00
abstract：:Mechanisms of resistance to the tyrosine kinase inhibitor (TKI) imatinib had been modeled in vitro even prior to the first reports of clinical resistance in patients with chronic myeloid leukemia (CML). The discovery that BCR-ABL is reactivated at the time of resistance and the unveiling of point mutations within the ...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：10.1053/j.seminhematol.2010.06.005
更新日期：2010-10-01 00:00:00
abstract：:5-Aza-2'-deoxycytidine (decitabine; Dacogen, MGI Pharma, Inc, Bloomington, MN) is a cytidine analog that inhibits DNA methyltransferases resulting in loss of DNA methylation with subsequent gene re-expression. This compound was first synthesized over 40 years ago and since that time much information has been learned r...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：10.1053/j.seminhematol.2005.05.006
更新日期：2005-07-01 00:00:00
abstract：:The use of combination chemotherapy has been successful in treating advanced or widespread Hodgkin's disease (HD). For patients with relapsed disease, the long-term prognosis is much poorer, despite the good rate of reinduction into a second or further remission using conventional treatments. The majority of such pati...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：
更新日期：1999-07-01 00:00:00
abstract：:Hydroxyurea (HU) is the first widely used treatment to have an impact on the severity of disease in adult patients with sickle cell anemia, but limited data are available for younger patients or those with variant genotypes. We reviewed 324 months of experience with HU in 16 patients from 5.3 to 18.4 years of age trea...
journal_title：Seminars in hematology
pub_type： 临床试验,杂志文章
doi：
更新日期：1997-07-01 00:00:00
abstract：:Anemia of chronic disease (ACD) or inflammation may be secondary to infections, autoimmune disorders, chronic renal failure, or malignancies. It is characterized by an immune activation with an increase in inflammatory cytokines and resultant increase in hepcidin levels. In addition, inappropriate erythropoietin level...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：10.1053/j.seminhematol.2013.06.006
更新日期：2013-07-01 00:00:00
abstract：:Seventy-six patients with previously untreated advanced Hodgkin's disease have been treated with the MOPP/ABV (mechlorethamine, vincristine, procarbazine, prednisone/doxorubicin, bleomycin, vincristine) hybrid program. Ten patients also received involved field radiation to the mediastinum for residual nodal disease af...
journal_title：Seminars in hematology
pub_type： 杂志文章
doi：
更新日期：1987-04-01 00:00:00
abstract：:Trauma is rapidly replacing stroke and cardiovascular disease as a leading cause of death in Western countries such as the United States, and almost a third (30%) of trauma deaths are due to blood loss. Although the new intervention strategies that have been developed and adopted by emergency care staff have reduced t...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：10.1053/j.seminhematol.2003.11.009
更新日期：2004-01-01 00:00:00
abstract：:Thrombosis is a common and potentially serious complication of immune-mediated heparin-induced thrombocytopenia (HIT). Discontinuation of heparin is a simple and important maneuver in patients with suspected HIT. Unfortunately, thrombosis often occurs even in those patients in whom heparin was discontinued because of ...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：
更新日期：1998-10-01 00:00:00
abstract：:The experiments reviewed here establish that surface components and surface functions can assume predictable, asymmetric patterns within the continuous plasma membranes of mammalian leukocytes. Recent biophysical and morphological studies show that receptor redistribution can occur very rapidly and that a unique geome...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：
更新日期：1983-10-01 00:00:00
abstract：:This phase I trial of idarubicin (IDA) was conducted in 32 patients with acute leukemia and chronic myelogenous leukemia (CML) in blastic crisis (CML/BC) who either had failed to achieve a complete remission (CR) after initial induction therapy or had relapsed after CR. IDA was administered at dosages ranging from an ...
journal_title：Seminars in hematology
pub_type： 临床试验,杂志文章,评审
doi：
更新日期：1996-10-01 00:00:00
abstract：:Since warfarin remains the predominate drug administered for long-term anticoagulation, optimizing therapy for maximum antithrombotic effect with minimal bleeding risk continues to challenge clinicians. Genetic differences exist that affect an individual's response to warfarin. The clinician can use genetic informatio...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：10.1053/shem.2002.34089
更新日期：2002-07-01 00:00:00
abstract：:Myelodysplastic syndromes (MDS) are clonal hematologic disorders characterized by ineffective hematopoiesis resulting in peripheral cytopenia and by increased progression to acute myelocytic leukemia (AML). With the exception of allogeneic stem cell transplantation, there is generally no curative treatment for these d...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：10.1053/j.seminhematol.2004.02.002
更新日期：2004-04-01 00:00:00
abstract：:Mantle-cell lymphoma (MCL) is a lymphoproliferative disorder derived from a subset of naive pregerminal center cells characterized by a nodular or diffuse proliferation of atypical lymphoid cells with a monoclonal B-cell phenotype and coexpression of CD5. Two cytologic variants have been identified, typical and blasti...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：
更新日期：1999-04-01 00:00:00
abstract：:Autologous hematopoietic stem cell transplantation (HSCT) has a long tradition in Europe. Initially developed as a tool to restore rapid remission or chronic phase in patients with advanced leukemia without a sibling donor, it evolved over the last three decades to be used as a standard tool in patients with malignanc...
journal_title：Seminars in hematology
pub_type： 历史文章,杂志文章
doi：10.1053/j.seminhematol.2007.09.001
更新日期：2007-10-01 00:00:00
abstract：:Idiopathic myelofibrosis (IMF) is a clonal stem cell disorder and is one of the four major myeloproliferative disorders, which include essential thrombocythemia (ET), polycythemia vera (PV), and chronic myelogenous leukemia (CML). Patients may be asymptomatic at the early stages, but later progress to marrow fibrosis,...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：10.1053/j.seminhematol.2004.02.009
更新日期：2004-04-01 00:00:00
abstract：:Thrombocytopenia is common among sick neonates, affecting 20% to 35% of all patients admitted to the neonatal intensive care unit (NICU). While most cases of neonatal thrombocytopenia are mild or moderate and resolve within 7 to 14 days with appropriate therapy, 2.5% to 5% of NICU patients develop severe thrombocytope...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：10.1053/j.seminhematol.2010.04.002
更新日期：2010-07-01 00:00:00
abstract：:During myeloid differentiation, the pluripotent hematopoietic stem cell passes through several well-defined morphologic stages within the bone marrow. These changes include progressive nuclear segmentation and the acquisition of stage-specific granules. Primary granules appear at the myeloblast stage, and are found in...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：
更新日期：1997-10-01 00:00:00
abstract：:By definition, myeloproliferative disorders (MPDs) are caused by an acquired somatic mutation of a hematopoietic progenitor/stem cell and have sporadic occurrence. However, well-documented families exist with first-degree relatives acquiring one or several MPDs. It is reasonable to assume that the germ-line mutation(s...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：10.1053/j.seminhematol.2005.08.002
更新日期：2005-10-01 00:00:00
abstract：:The prolonged and severe myelosuppression associated with high-dose chemotherapy and autologous bone marrow transplantation is a major causative factor in patient morbidity and mortality resulting from infection and other causes. The recent molecular cloning, in vitro expression, and formulation of recombinant human c...
journal_title：Seminars in hematology
pub_type： 杂志文章
doi：
更新日期：1989-04-01 00:00:00
abstract：:Myelofibrosis with myeloid metaplasia, also known as idiopathic myelofibrosis (IF) or agnogenic myeloid metaplasia, is one of the characteristic manifestations of polycythemia vera (PV) in the spent phase, and has a particularly adverse prognosis. IF may also present de novo. To date, treatment strategies for both spe...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：10.1053/shem.2003.50032
更新日期：2003-01-01 00:00:00
