Comparison of next-generation sequencing and mutation-specific platforms in clinical practice.


OBJECTIVES:To compare next-generation sequencing (NGS) platforms with mutation-specific analysis platforms in a clinical setting, in terms of sensitivity, mutation specificity, costs, capacity, and ease of use. METHODS:We analyzed 25 formalin-fixed, paraffin-embedded lung cancer samples of different size and tumor percentage for known KRAS and EGFR hotspot mutations with two dedicated genotyping platforms (cobas [Roche Diagnostics, Almere, The Netherlands] and Rotor-Gene [QIAGEN, Venlo, The Netherlands]) and two NGS platforms (454 Genome Sequencer [GS] junior [Roche Diagnostics] and Ion Torrent Personal Genome Machine [Life Technologies, Bleiswijk, The Netherlands]). RESULTS:All platforms, except the 454 GS junior, detected the mutations originally detected by Sanger sequencing and high-resolution melting prescreening and detected an additional KRAS mutation. The dedicated genotyping platforms outperformed the NGS platforms in speed and ease of use. The large sequencing capacity of the NGS platforms enabled them to deliver all mutation information for all samples at once. CONCLUSIONS:Sensitivity for detecting mutations was highly comparable among all platforms. The choice for either a dedicated genotyping platform or an NGS platform is basically a trade-off between speed and genetic information.


Am J Clin Pathol


Hinrichs JW,van Blokland WT,Moons MJ,Radersma RD,Radersma-van Loon JH,de Voijs CM,Rappel SB,Koudijs MJ,Besselink NJ,Willems SM,de Weger RA




Has Abstract


2015-04-01 00:00:00














  • Ultrastructural examination of urinary sediment. Value in renal amyloidosis.

    abstract::Examination of urinary sediment has been recommended as a useful diagnostic aid for renal amyloidosis. This procedure was evaluated in the cases of 57 patients, including 11 with proven renal amyloidosis and 13 considered very likely to have the disease. At least three types of urinary fibrillar material were observed...

    journal_title:American journal of clinical pathology

    pub_type: 杂志文章


    authors: Winer RL,Wuerker RB,Erickson JO,Cooper WL

    更新日期:1979-01-01 00:00:00

  • Squamous cell carcinoma variants of the upper aerodigestive tract.

    abstract::Squamous cell carcinoma (SCC) is by far the most common malignancy of the upper aerodigestive tract. Most conventional-type SCCs do not present the surgical pathologist with diagnostic difficulty. Certain variants, however, can histologically mimic benign and other malignant diseases. In such cases, correct diagnosis ...

    journal_title:American journal of clinical pathology

    pub_type: 杂志文章,评审


    authors: Stelow EB,Mills SE

    更新日期:2005-12-01 00:00:00

  • Microcystic adenomas of the pancreas. Report of three cases with two of multicentric origin.

    abstract::Three cases of microcystic adenomas of the pancreas with special reference to multicentric origin are described. The gross features and light microscopic findings were consistent with those described as being microcystic adenomas, but in two cases the gross examination and gelatin-embedded giant slices revealed multip...

    journal_title:American journal of clinical pathology

    pub_type: 杂志文章


    authors: Kim YI,Seo JW,Suh JS,Lee KU,Choe KJ

    更新日期:1990-08-01 00:00:00

  • T-regulatory cells in lymph nodes: correlation with sex and HIV status.

    abstract::Because T-regulatory cells (Tregs) can harmfully impair HIV-specific responses or beneficially limit immune activation, we compared the number of Tregs in lymph nodes from 48 HIV+ patients and 106 HIV- subjects. By using a microscope counting grid, we found that the mean ± SD number of Tregs in lymph nodes was 3 times...

    journal_title:American journal of clinical pathology

    pub_type: 杂志文章


    authors: Arce J,Levin M,Xie Q,Albanese J,Ratech H

    更新日期:2011-07-01 00:00:00

  • Predictive value of a screening test for antibodies to HTLV-III.

    abstract::A test for the detection of antibodies to HTLV-III is available and will be widely used to screen donated blood to prevent transfusion-associated acquired immunodeficiency syndrome (AIDS). Based upon the sensitivity and specificity, the authors calculated the expected predictive values for different groups of asymptom...

    journal_title:American journal of clinical pathology

    pub_type: 杂志文章


    authors: Sivak SL,Wormser GP

    更新日期:1986-06-01 00:00:00

  • Use of a probe to repeat sequence of the Y chromosome for detection of host cells in peripheral blood of bone marrow transplant recipients.

    abstract::In situ hybridization for the Y chromosome (Y-ISH) was used to identify residual host cells in the peripheral blood of 51 recipients of sex-mismatched allogeneic marrow not depleted of T cells following conditioning with high-dose cyclophosphamide and total body irradiation (TBI). One patient who rejected the graft sh...

    journal_title:American journal of clinical pathology

    pub_type: 杂志文章


    authors: Przepiorka D,Thomas ED,Durnam DM,Fisher L

    更新日期:1991-02-01 00:00:00

  • A computer system for cytology in a private laboratory using a PDP 8/E minicomputer.

    abstract::A computer software package written in Dibol for a PDP 8/E computer is described that is designed for the needs of the cytology department of a moderate-sized private medical laboratory. Computerized accessioning of cases, report preparation and printing, historical filing, activity summary reports, and direct patient...

    journal_title:American journal of clinical pathology

    pub_type: 杂志文章


    authors: Ashworth CT,McConnell TH,Ashworth RD,Nielsen CR,Sanford J

    更新日期:1979-04-01 00:00:00

  • In vitro assessment of platelet damage during rotator storage.

    abstract::The measurement of beta-thromboglobulin (BTG) and platelet lactic dehydrogenase (LDH) as markers for alpha-granule release and platelet lysis, respectively, has been reported to correlate with the amount of damage incurred during the preparation and storage of platelet concentrates. We compared the concentrations of t...

    journal_title:American journal of clinical pathology

    pub_type: 杂志文章


    authors: Kalmin ND,Wilson MJ,Liles BA

    更新日期:1983-06-01 00:00:00

  • Endocrinology in cancer of the breast. Status and prospects.

    abstract::Breast cancer is the result of a multistage carcinogenic process. Initiation, promotion, dependency and autonomy make up a sequence of experimentally distinguishable phases of this process. Progression--the transition from dependency on hormonal support to autonomy--is demonstrable clinically. High-affinity saturatabl...

    journal_title:American journal of clinical pathology

    pub_type: 杂志文章,评审


    authors: Brennan MJ

    更新日期:1975-12-01 00:00:00

  • Chronic granulomatous disease with leukocytic glucose-6-phosphate dehydrogenase deficiency in a 28-month-old girl.

    abstract::A 28-month-old girl, whose parents are first cousins, was hospitalized following a series of severe infections. Results of functional granulocytic tests permitted the diagnosis of chronic granulomatous disease (lack of nitroblue tetrazolium dye reduction, impaired bactericidal activity for Staphylococcus aureus but no...

    journal_title:American journal of clinical pathology

    pub_type: 杂志文章


    authors: Corberand J,De Larrard B,Vergnes H,Carrière JP

    更新日期:1978-08-01 00:00:00

  • Analysis of cyclin D1 expression by quantitative real-time reverse transcription-polymerase chain reaction in the diagnosis of mantle cell lymphoma.

    abstract::Mantle cell lymphoma (MCL) is characterized by typical morphologic features and the CD5+, CD23-immunophenotype. However, some morphologically typical MCLs are CD23+. A t(11;14)(q13;q32) translocation is frequently found in MCL, leading to overexpression of cyclin D1. We studied the expression of cyclin D1 in 50 small ...

    journal_title:American journal of clinical pathology

    pub_type: 杂志文章


    authors: Peghini PE,Fehr J

    更新日期:2002-02-01 00:00:00

  • Performance Evaluation of Serum Free Light Chain Analysis: Nephelometry vs Turbidimetry, Monoclonal vs Polyclonal Reagents.

    abstract:Objectives:Free light chain (FLC) measurement gained a lot of interest for diagnostic workup of monoclonal gammopathy. Methods:We evaluated the performance of turbidimetric polyclonal Freelite (The Binding Site, Birmingham, UK) assays on Cobas 6000 (Roche Diagnostics, Rotkreuz, Switzerland) and nephelometric monoclona...

    journal_title:American journal of clinical pathology

    pub_type: 杂志文章


    authors: Messiaen AS,De Sloovere MMW,Claus PE,Vercammen M,Van Hoovels L,Heylen O,Debrabandere J,Vanpoucke H,De Smet D

    更新日期:2017-06-01 00:00:00

  • Morphologically occult systemic mastocytosis in bone marrow: clinicopathologic features and an algorithmic approach to diagnosis.

    abstract:OBJECTIVES:Bone marrow (BM) biopsy specimens involved by systemic mastocytosis (SM) typically show multifocal, compact, dense aggregates of spindled mast cells (MCs). However, some cases lack aggregate formation and fulfill the World Health Organization 2008 criteria for SM, based on minor criteria. METHODS:We identif...

    journal_title:American journal of clinical pathology

    pub_type: 杂志文章


    authors: Reichard KK,Chen D,Pardanani A,McClure RF,Howard MT,Kurtin PJ,Wood AJ,Ketterling RP,King RL,He R,Morice WG,Hanson CA

    更新日期:2015-09-01 00:00:00

  • Cytologic features of poorly differentiated 'insular' carcinoma of the thyroid, as revealed by fine-needle aspiration biopsy.

    abstract::The authors report on the cytologic features of six cases of poorly differentiated "insular" carcinoma (IC) of the thyroid, a recently described variety of thyroid tumor intermediate between well-differentiated and anaplastic neoplasms. It is characterized by trabecular and/or alveolar growth patterns, merging with fo...

    journal_title:American journal of clinical pathology

    pub_type: 杂志文章


    authors: Pietribiasi F,Sapino A,Papotti M,Bussolati G

    更新日期:1990-12-01 00:00:00

  • A new solid phase passive hemagglutination test for IgM antibody to hepatitis B core antigen.

    abstract::There is a need for a simple, sensitive, specific, and inexpensive test for immunoglobulin M antibody to hepatitis B core antigen (anti-HBc IgM). A solid phase passive hemagglutination test (SP-PHA) was developed for this purpose and compared with the enzyme-linked immunosorbent assay (ELISA) test. Hepatitis B core an...

    journal_title:American journal of clinical pathology

    pub_type: 杂志文章


    authors: Petchclai B,Khupulsup K,Kurathong S

    更新日期:1987-02-01 00:00:00

  • Transformation of follicular lymphoma to precursor B-cell lymphoblastic lymphoma with c-myc gene rearrangement as a critical event.

    abstract::Progression of follicular lymphoma (FL) to a higher-grade lymphoma occurs in 25% to 60% of cases and frequently indicates a poor prognosis. The transformation is accompanied by alteration in morphologic features and clinical behaviors. Herein, we report a case of FL occurring in a 59-year-old woman with the developmen...

    journal_title:American journal of clinical pathology

    pub_type: 杂志文章


    authors: Young KH,Xie Q,Zhou G,Eickhoff JC,Sanger WG,Aoun P,Chan WC

    更新日期:2008-01-01 00:00:00

  • Subclinical hemolytic disease of the newborn due to anti-e.

    abstract::A case of subclinical hemolytic disease of the newborn resulting in reticulocytosis and positive direct and indirect antiglobulin tests in an infant both ABO- and Rh(D)-compatible with its mother is reported. The antibody was an IgG, non-complement-binding molecule present in low titer with a low avidity for the antig...

    journal_title:American journal of clinical pathology

    pub_type: 杂志文章


    authors: Hanzlick RL,Senhauser DA

    更新日期:1979-07-01 00:00:00

  • Evaluation of a Digene-recommended algorithm for human papillomavirus low-positive results present in a "retest zone".

    abstract::The Digene Hybrid Capture 2 (hc2) high-risk human papillomavirus (HPV) DNA test (Digene, Gaithersburg, MD) is widely used for triage of women with atypical squamous cells of undetermined significance. Results in a "retest zone" (weakly positive tests) are repeated up to 2 times according to the Digene-recommended algo...

    journal_title:American journal of clinical pathology

    pub_type: 杂志文章


    authors: Muldrew KL,Beqaj SH,Han J,Lum SH,Clinard V,Schultenover SJ,Tang YW

    更新日期:2007-01-01 00:00:00

  • Mantle Cell Lymphoma With Mantle Zone Growth Pattern.

    abstract:OBJECTIVES:To characterize the clinical and pathologic features of mantle cell lymphoma with mantle zone growth pattern (MCL-MZGP). METHODS:The clinicopathologic data from 35 cases of MCL-MZGP obtained in 12 centers were analyzed. RESULTS:The patients with MCL-MZGP typically sought treatment at high clinical stages (...

    journal_title:American journal of clinical pathology

    pub_type: 杂志文章


    authors: Yuan J,Li S,Liu X,Su RJ,Chen M,Wu X,Zheng G,Smith LM,Wang L,Li Y,Liu C,Zhou J,Shen Q,Zhang L,Wang E,Xu ML,Pan Z

    更新日期:2019-07-05 00:00:00

  • Intrinsic factor, free of R proteins, can be prepared from mouse stomach and used in a ligand assay specific for "true" cobalamin.

    abstract::A ligand assay specific for cobalamin that uses mouse stomach as the source of intrinsic factor has been developed. When mouse stomach extract incubated with radiocobalamin is fractionated by gel chromatography, the radioactive complex elutes as a single peak with apparent molecular weight of 54,900. Formation of the ...

    journal_title:American journal of clinical pathology

    pub_type: 杂志文章


    authors: Reynoso G,Tuggey R,Hansen H,Fontelo PA,Konopka S,Miller JT

    更新日期:1981-06-01 00:00:00

  • Microcystic squamous cell carcinoma of the lung: a clinicopathologic study of three cases.

    abstract::Three cases of pulmonary squamous cell carcinoma (SCC) are described displaying a prominent microcystic pattern closely resembling microcystic adnexal carcinoma of the skin (MAC). The patients were 2 women and 1 man aged 72 to 83 years. Histologically, in addition to conventional SCC, all tumors showed striking microc...

    journal_title:American journal of clinical pathology

    pub_type: 杂志文章


    authors: Weissferdt A,Moran CA

    更新日期:2011-09-01 00:00:00

  • Haemophilus aphrophilus cholecystitis.

    abstract::Cultures from the gallbladder and blood of a 60-year-old man with acute cholecystitis grew Haemophilus aphrophilus. This organism, an unusual isolate in clinical specimens, is most frequently seen in patients with either endocarditis or brain abscesses. Haemophilus aphrophilus may be distinguished from Eikenella corro...

    journal_title:American journal of clinical pathology

    pub_type: 杂志文章


    authors: Huck W,Britt MR

    更新日期:1978-03-01 00:00:00

  • Assessment of cervicovaginal smear adequacy. The Bethesda System guidelines and reproducibility.

    abstract::Criteria for assessing adequacy of cervicovaginal smears according to the Bethesda System include cellular composition and quantity, specimen preservation, fixation, and absence of obscuring elements. The reproducibility of adequacy assessment using these parameters was the focus of this study. Specimens were chosen t...

    journal_title:American journal of clinical pathology

    pub_type: 杂志文章


    authors: Spires SE,Banks ER,Weeks JA,Banks HW,Davey DD

    更新日期:1994-09-01 00:00:00

  • Primary embryonal-choriocarcinoma of the mediastinum in a woman. A case report with immunohistochemical study.

    abstract::Primary malignant germ cell tumors of the mediastinum are extremely rare among females. This report describes such a tumor arising in the mediastinum of a 26-year-old woman and correlates immunohistochemical studies of the neoplasm with serum tumor markers. Microscopic examination of the tumor revealed an embryonal ca...

    journal_title:American journal of clinical pathology

    pub_type: 杂志文章


    authors: Sandhaus L,Strom RL,Mukai K

    更新日期:1981-04-01 00:00:00

  • Phagocytic myeloma cells.

    abstract::A case of a patient with otherwise typical multiple myeloma whose myeloma cells were phagocytic is described. Phagocytosis of erythrocytes, erythrocytic precursors, lymphocytes, and platelets was found. Ingestion of latex particles by myeloma cells was demonstrated in vitro. ...

    journal_title:American journal of clinical pathology

    pub_type: 杂志文章


    authors: Fitchen JH,Lee S

    更新日期:1979-06-01 00:00:00

  • Cytochemistry of acid hydrolases in chronic B- and T-cell leukemias.

    abstract::Four acid hydrolases, acid phosphatase (AP), alpha-naphthyl acetate esterase (ANAE), beta-glucuronidase, and N-acetyl-beta-glucosaminidase, were determined cytochemically in peripheral blood lymphocytes from 50 patients with B and T chronic lymphocytic and prolymphocytic leukemias (CLL, PLL) and related disorders. Str...

    journal_title:American journal of clinical pathology

    pub_type: 杂志文章


    authors: Crockard A,Chalmers D,Matutes E,Catovsky D

    更新日期:1982-10-01 00:00:00

  • Genotypic and immunophenotypic characterization of two human light chain-only B-cell non-Hodgkin's lymphomas.

    abstract::Two atypical human non-Hodgkin's lymphomas (NHLs) that exhibited unusual genotypic and in situ immunophenotypic abnormalities are described. Immunophenotypically, both NHLs lacked surface Ig heavy chains. With the exception of the MB2 B-cell-associated antigen, no B- and T-cell differentiation antigen was detected in ...

    journal_title:American journal of clinical pathology

    pub_type: 杂志文章


    authors: De Re V,Carbone A,Dolcetti R,Tirelli U,Folegotto C,Boiocchi M

    更新日期:1990-10-01 00:00:00

  • Noninvasive monitoring of hemoglobin. The effects of WBC counts on measurement.

    abstract::The efficacy of a noninvasive hemoglobin monitoring device (Astrin, Sysmex, Kobe, Japan) was evaluated for healthy volunteers and for patients with hematologic disorders. At the same time, the effects of WBC counts on noninvasive monitoring were studied by clinical evaluation and in ex vivo experiments. The hemoglobin...

    journal_title:American journal of clinical pathology

    pub_type: 杂志文章


    authors: Saigo K,Imoto S,Hashimoto M,Mito H,Moriya J,Chinzei T,Kubota Y,Numada S,Ozawa T,Kumagai S

    更新日期:2004-01-01 00:00:00

  • Spironolactone bodies. An immunoperoxidase study with biochemical correlation.

    abstract::The present immunoperoxidase study attempted to localize aldosterone and cortisol in formalin-fixed paraffin-embedded adrenal glands or tumors. Apparently, steroid substances are solubilized during routine tissue processing, and the cytoplasm of adrenal cortical cells is not stained by either antialdosterone or antico...

    journal_title:American journal of clinical pathology

    pub_type: 杂志文章


    authors: Hsu SM,Raine L,Martin HF

    更新日期:1981-01-01 00:00:00

  • Expression of the Leu-8 antigen by B-cell lymphomas.

    abstract::The Leu-8 antigen is found on the surface of many hematologic cells, including many T- and B-lymphocytes. With the use of a frozen-section immunoperoxidase technic, 152 B-cell non-Hodgkin's lymphomas were examined for Leu-8 expression. Of these lymphomas, 53% expressed Leu-8. Subclassification of the lymphomas with th...

    journal_title:American journal of clinical pathology

    pub_type: 杂志文章


    authors: Michie SA,Garcia CF,Strickler JG,Dailey MO,Rouse RV,Warnke RA

    更新日期:1987-10-01 00:00:00