Abstract:
CONTEXT:- Detection of variants in hematologic malignancies is increasingly important because of a growing number of variants impacting diagnosis, prognosis, and treatment response, and as potential therapeutic targets. The use of next-generation sequencing technologies to detect variants in hematologic malignancies in a clinical diagnostic laboratory setting allows for efficient identification of routinely tested markers in multiple genes simultaneously, as well as the identification of novel and rare variants in other clinically relevant genes. OBJECTIVE:- To apply a systematic approach to evaluate and validate a commercially available next-generation sequencing panel (TruSight Myeloid Sequencing Panel, Illumina, San Diego, California) targeting 54 genes. In this manuscript, we focused on the parameters that were used to evaluate assay performance characteristics. DATA SOURCES:- Analytical validation was performed using samples containing known variants that had been identified previously. Cases were selected from different disease types, with variants in a range of genes. Panel performance characteristics were assessed and genomic regions requiring additional analysis or wet-bench approaches identified. CONCLUSIONS:- We validated the performance characteristics of a myeloid next-generation sequencing panel for detection of variants. The TruSight Myeloid Sequencing Panel covers more than 95% of target regions with depth greater than 500×. However, because of unique variant types such as large insertions or deletions or genomic regions of high GC content, variants in CEBPA, FLT3, and CALR required supplementation with non-next-generation sequencing assays or with informatics approaches to address deficiencies in performance. The use of multiple bioinformatics approaches (2 variant callers and informatics scripts) allows for maximizing calling of true positives, while identifying limitations in using either method alone.
journal_name
Arch Pathol Lab Medjournal_title
Archives of pathology & laboratory medicineauthors
Thomas M,Sukhai MA,Zhang T,Dolatshahi R,Harbi D,Garg S,Misyura M,Pugh T,Stockley TL,Kamel-Reid Sdoi
10.5858/arpa.2016-0547-RAsubject
Has Abstractpub_date
2017-06-01 00:00:00pages
759-775issue
6eissn
0003-9985issn
1543-2165journal_volume
141pub_type
杂志文章abstract::The increasing interest in geriatric medicine demands an understanding of aging in human tissues. The changes in the human heart are an important aspect of this understanding because cardiovascular diseases are a leading medical problem in the elderly. The published data about age-related changes in the human myocardi...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:
更新日期:1990-09-01 00:00:00
abstract::Krukenberg tumor is an uncommon metastatic tumor of the ovary. This article provides an overview of the major pathologic manifestations of Krukenberg tumor, patient characteristics, clinical and laboratory features of the disease, prognostic factors, and current knowledge about its pathogenesis. Pathologists have to b...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章,评审
doi:10.1043/1543-2165(2006)130[1725:AILAKT]2.0.CO;2
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abstract::We report a case of hepatic inflammatory myofibroblastic tumor in a 26-year-old African American man who presented with right upper quadrant pain, weight loss, and fatigue during the previous year. Hepatomegaly was found on physical examination. Laboratory findings were significant for mild normocytic, normochromic an...
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doi:10.1043/1543-2165(2006)130[1548:IMTOTL]2.0.CO;2
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abstract::Data concerning the activities of faculty and various characteristics of academic departments of pathology were obtained from questionnaires returned by 94 chairmen and 1571 faculty members. Data concerning manpower that was the subject of a previous report indicated that the projected supply of MD pathologists for fa...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:
更新日期:1987-04-01 00:00:00
abstract:CONTEXT:Childhood mortality statistics are based on death certificates. The causes of death listed on death certificates may not be confirmed by autopsy findings, and mortality statistics may reflect deaths of many children with chronic disease. The diseases responsible for nontraumatic deaths of previously healthy chi...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:10.1043/1543-2165(2006)130[1780:CODDBA]2.0.CO;2
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abstract::We report a case of gastric myeloid metaplasia in an 89- year-old woman with agnogenic myeloid metaplasia. The lesions were fortuitously discovered on upper endoscopy. The antral mucosa was thickened and polypoid, and on histologic examination contained immature granulocytes, megakaryocytes, and a few erythroblasts wi...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章,评审
doi:10.1043/1543-2165(2004)128<568:GMMACR>2.0.CO;2
更新日期:2004-05-01 00:00:00
abstract::Myocardial lesions were seen in dogs subjected to experimental hemorrhagic shock. In contrast, dogs that had been previously surgically treated by cardiac denervation and adrenalectomy, showed less myocardial damage. The latter group also had a substantially decreased myocardial I-norepinephrine content and a much low...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:
更新日期:1980-02-01 00:00:00
abstract::We describe a young patient with no known family history of cancer who presented at 18 months with 2 advanced primary tumors, choroid plexus carcinoma and adrenal cortical carcinoma. Immunohistochemical studies demonstrated high levels of nuclear p53 protein expression in both tumors, as well as in the adjacent normal...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:10.1043/0003-9985(2002)126<0070:CCPCAA>2.0.CO;2
更新日期:2002-01-01 00:00:00
abstract:CONTEXT:Diagnosing epithelioid serosal lesions remains a challenge because numerous different processes-primary or secondary, benign or malignant-occur in body cavities, some of which are very rare. OBJECTIVES:To review the newest literature and to describe the morphologic criteria and immunohistochemical markers that...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章,评审
doi:10.5858/arpa.2010-0216-RA
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journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:10.1043/1543-2165(2006)130[1330:MEIAAH]2.0.CO;2
更新日期:2006-09-01 00:00:00
abstract::The autopsy is receiving renewed emphasis as a tool for quality assurance in clinical medicine. Postmortem blood cultures frequently are taken during the autopsy but are costly and of unclear diagnostic utility. To assess whether postmortem blood cultures contribute any useful information not already known from antemo...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:
更新日期:1993-10-01 00:00:00
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journal_title:Archives of pathology & laboratory medicine
pub_type: 传,历史文章,杂志文章
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更新日期:2012-11-01 00:00:00
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journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:10.5858/arpa.2012-0193-OA
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journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章,评审
doi:10.5858/arpa.2014-0366-RS
更新日期:2015-12-01 00:00:00
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journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:10.1043/0003-9985(2003)127<0618:IFIITP>2.0.CO;2
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journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章,评审
doi:
更新日期:1983-12-01 00:00:00
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journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:10.1043/1543-2165(2008)132[813:ISOBBM]2.0.CO;2
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journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章,评审
doi:10.5858/arpa.2011-0696-OA
更新日期:2013-04-01 00:00:00
abstract::Findings of a histochemical and ultrastructural study of the mucogenic cells of congenital adenomatoid malformation of lung indicate that these cells share features with goblet cells of bronchial or intestinal origin and do not indicate a similarity to normal gastric epithelium or glands, as has been previously sugges...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:
更新日期:1979-05-01 00:00:00
abstract::Ovulation induction protocols for oocyte retrieval have evolved from clomiphene citrate/human menopausal gonadotropins (menotropins) to human menopausal gonadotropins alone and, finally, to a combination of human menopausal gonadotropins and an agonist of gonadotropin-releasing hormone (GnRH-a). The almost abandonment...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章,评审
doi:
更新日期:1992-04-01 00:00:00
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doi:
更新日期:1982-12-01 00:00:00
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pub_type: 杂志文章
doi:10.1043/1543-2165(2008)132[684:EOTBBU]2.0.CO;2
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journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:10.1043/1543-2165(2008)132[965:CSORET]2.0.CO;2
更新日期:2008-06-01 00:00:00
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journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:
更新日期:1984-04-01 00:00:00
abstract::Herein, we report a case of cutaneous angiosarcoma in a 35-year-old, morbidly obese woman. The tumor arose in the most dependent portion of the lower abdominal panniculus and showed typical changes of chronic lymphedema. The patient underwent a radical resection of her lower abdominal wall panniculus, which showed a m...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:10.1043/0003-9985(2001)125<0531:CACMO>2.0.CO;2
更新日期:2001-04-01 00:00:00
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journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:
更新日期:1988-09-01 00:00:00
abstract::Basal cell carcinoma (BCC) is the most common form of skin cancer, accounting for 65% to 75% of all malignant skin tumors. Metastic BCC is very rare--only 109 documented cases have been reported to date. The mean time of survival after metastasis has been reported to be ten months. No effective therapeutic modality is...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:
更新日期:1977-06-01 00:00:00
abstract::New Frontiers in Pathology is a unique educational event intended to meet the ongoing educational needs of practicing pathologists. Continuous medical education (CME) is required for maintenance of licensure by virtually all state licensing bodies. Satisfying CME requirements hinges on earning a minimum number of Amer...
journal_title:Archives of pathology & laboratory medicine
pub_type:
doi:10.5858/arpa.2012-0234-ED
更新日期:2012-08-01 00:00:00
abstract:OBJECTIVE:To design, develop, and implement a prototype medical event-reporting system for use in transfusion medicine to improve transfusion safety by studying incidents and errors. METHODS:The IDEALS concept of design was used to identify specifications for the event-reporting system, and a Delphi and subsequent nom...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:
更新日期:1998-03-01 00:00:00
abstract:OBJECTIVE:To describe the occurrence and significance of mucosal lymphangiectasia in gastric adenocarcinoma. DESIGN:One hundred consecutive gastrectomies for adenocarcinoma were reviewed, using 25 consecutive gastroscopically biopsied gastrectomy specimens with peptic ulcers as negative controls. SETTING:The specimen...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:
更新日期:1996-01-01 00:00:00