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Molecular analyses of 15,542 patients with suspected BCR-ABL1-negative myeloproliferative disorders allow to develop a stepwise diagnostic workflow.

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Molecular analyses of 15,542 patients with suspected BCR-ABL1-negative myeloproliferative disorders allow to develop a stepwise diagnostic workflow. / Schnittger, Susanne; Bacher, Ulrike; Eder, Christiane; Dicker, Frank; Alpermann, Tamara; Grossmann, Vera; Kohlmann, Alexander; Kern, Wolfgang; Haferlach, Claudia; Haferlach, Torsten.

In: HAEMATOLOGICA, Vol. 97, No. 10, 10, 2012, p. 1582-1585.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Schnittger, S, Bacher, U, Eder, C, Dicker, F, Alpermann, T, Grossmann, V, Kohlmann, A, Kern, W, Haferlach, C & Haferlach, T 2012, 'Molecular analyses of 15,542 patients with suspected BCR-ABL1-negative myeloproliferative disorders allow to develop a stepwise diagnostic workflow.', HAEMATOLOGICA, vol. 97, no. 10, 10, pp. 1582-1585. https://doi.org/10.3324/haematol.2012.064683

APA

Schnittger, S., Bacher, U., Eder, C., Dicker, F., Alpermann, T., Grossmann, V., Kohlmann, A., Kern, W., Haferlach, C., & Haferlach, T. (2012). Molecular analyses of 15,542 patients with suspected BCR-ABL1-negative myeloproliferative disorders allow to develop a stepwise diagnostic workflow. HAEMATOLOGICA, 97(10), 1582-1585. [10]. https://doi.org/10.3324/haematol.2012.064683

Vancouver

Schnittger S, Bacher U, Eder C, Dicker F, Alpermann T, Grossmann V et al. Molecular analyses of 15,542 patients with suspected BCR-ABL1-negative myeloproliferative disorders allow to develop a stepwise diagnostic workflow. HAEMATOLOGICA. 2012;97(10):1582-1585. 10. https://doi.org/10.3324/haematol.2012.064683

Bibtex

@article{a79578e6d3ca4b6a963cd59510189bf2,
title = "Molecular analyses of 15,542 patients with suspected BCR-ABL1-negative myeloproliferative disorders allow to develop a stepwise diagnostic workflow.",
abstract = "We investigated 15,542 patients with suspected BCR-ABL1- negative myeloproliferative or myelodysplastic/myeloproliferative neoplasm (including 359 chronic myelomonocytic leukemia) by a molecular marker set. JAK2V617F was detected in the suspected categories as follows: polycythemia vera 88.3%, primary myelofibrosis 53.8%, essential thrombocythemia 50.2%, and not further classifiable myeloproliferative neoplasms 38.0%. JAK2 exon 12 mutations were detected in 40.0% JAK2V617F-negative suspected polycythemia vera, MPLW515 mutations in 13.2%JAK2V617F-negative primary myelofibrosis and 7.1% JAK2V617F-negative essential thrombocythemia. TET2 mutations were distributed across all entities but were most frequent in suspected chronic myelomonocytic leukemia (77.8%). CBL mutations were identified in suspected chronic myelomonocytic leukemia (13.9%), primary myelofibrosis (8.0%), and not further classifiable myeloproliferative neoplasm (7.0%). This leads to a stepwise workflow for suspected myeloproliferative neoplasms starting with JAK2V617F and investigating JAK2V617F-negative patients for JAK2 exon 12 or MPL mutations, respectively. In cases in which a myeloproliferative neoplasm cannot be established, analysis for TET2, CBL and EZH2 mutations may be indicated.",
keywords = "Adult, Humans, Male, Aged, Female, Middle Aged, Aged, 80 and over, Adolescent, Young Adult, Cohort Studies, Child, Child, Preschool, Infant, Mutation, Exons, Fusion Proteins, bcr-abl/*genetics, Workflow, Janus Kinase 2/genetics, Myeloproliferative Disorders/*diagnosis/*genetics, Adult, Humans, Male, Aged, Female, Middle Aged, Aged, 80 and over, Adolescent, Young Adult, Cohort Studies, Child, Child, Preschool, Infant, Mutation, Exons, Fusion Proteins, bcr-abl/*genetics, Workflow, Janus Kinase 2/genetics, Myeloproliferative Disorders/*diagnosis/*genetics",
author = "Susanne Schnittger and Ulrike Bacher and Christiane Eder and Frank Dicker and Tamara Alpermann and Vera Grossmann and Alexander Kohlmann and Wolfgang Kern and Claudia Haferlach and Torsten Haferlach",
year = "2012",
doi = "10.3324/haematol.2012.064683",
language = "English",
volume = "97",
pages = "1582--1585",
journal = "HAEMATOLOGICA",
issn = "0390-6078",
publisher = "Ferrata Storti Foundation",
number = "10",

}

RIS

TY - JOUR

T1 - Molecular analyses of 15,542 patients with suspected BCR-ABL1-negative myeloproliferative disorders allow to develop a stepwise diagnostic workflow.

AU - Schnittger, Susanne

AU - Bacher, Ulrike

AU - Eder, Christiane

AU - Dicker, Frank

AU - Alpermann, Tamara

AU - Grossmann, Vera

AU - Kohlmann, Alexander

AU - Kern, Wolfgang

AU - Haferlach, Claudia

AU - Haferlach, Torsten

PY - 2012

Y1 - 2012

N2 - We investigated 15,542 patients with suspected BCR-ABL1- negative myeloproliferative or myelodysplastic/myeloproliferative neoplasm (including 359 chronic myelomonocytic leukemia) by a molecular marker set. JAK2V617F was detected in the suspected categories as follows: polycythemia vera 88.3%, primary myelofibrosis 53.8%, essential thrombocythemia 50.2%, and not further classifiable myeloproliferative neoplasms 38.0%. JAK2 exon 12 mutations were detected in 40.0% JAK2V617F-negative suspected polycythemia vera, MPLW515 mutations in 13.2%JAK2V617F-negative primary myelofibrosis and 7.1% JAK2V617F-negative essential thrombocythemia. TET2 mutations were distributed across all entities but were most frequent in suspected chronic myelomonocytic leukemia (77.8%). CBL mutations were identified in suspected chronic myelomonocytic leukemia (13.9%), primary myelofibrosis (8.0%), and not further classifiable myeloproliferative neoplasm (7.0%). This leads to a stepwise workflow for suspected myeloproliferative neoplasms starting with JAK2V617F and investigating JAK2V617F-negative patients for JAK2 exon 12 or MPL mutations, respectively. In cases in which a myeloproliferative neoplasm cannot be established, analysis for TET2, CBL and EZH2 mutations may be indicated.

AB - We investigated 15,542 patients with suspected BCR-ABL1- negative myeloproliferative or myelodysplastic/myeloproliferative neoplasm (including 359 chronic myelomonocytic leukemia) by a molecular marker set. JAK2V617F was detected in the suspected categories as follows: polycythemia vera 88.3%, primary myelofibrosis 53.8%, essential thrombocythemia 50.2%, and not further classifiable myeloproliferative neoplasms 38.0%. JAK2 exon 12 mutations were detected in 40.0% JAK2V617F-negative suspected polycythemia vera, MPLW515 mutations in 13.2%JAK2V617F-negative primary myelofibrosis and 7.1% JAK2V617F-negative essential thrombocythemia. TET2 mutations were distributed across all entities but were most frequent in suspected chronic myelomonocytic leukemia (77.8%). CBL mutations were identified in suspected chronic myelomonocytic leukemia (13.9%), primary myelofibrosis (8.0%), and not further classifiable myeloproliferative neoplasm (7.0%). This leads to a stepwise workflow for suspected myeloproliferative neoplasms starting with JAK2V617F and investigating JAK2V617F-negative patients for JAK2 exon 12 or MPL mutations, respectively. In cases in which a myeloproliferative neoplasm cannot be established, analysis for TET2, CBL and EZH2 mutations may be indicated.

KW - Adult

KW - Humans

KW - Male

KW - Aged

KW - Female

KW - Middle Aged

KW - Aged, 80 and over

KW - Adolescent

KW - Young Adult

KW - Cohort Studies

KW - Child

KW - Child, Preschool

KW - Infant

KW - Mutation

KW - Exons

KW - Fusion Proteins, bcr-abl/genetics

KW - Workflow

KW - Janus Kinase 2/genetics

KW - Myeloproliferative Disorders/diagnosis/genetics

KW - Adult

KW - Humans

KW - Male

KW - Aged

KW - Female

KW - Middle Aged

KW - Aged, 80 and over

KW - Adolescent

KW - Young Adult

KW - Cohort Studies

KW - Child

KW - Child, Preschool

KW - Infant

KW - Mutation

KW - Exons

KW - Fusion Proteins, bcr-abl/genetics

KW - Workflow

KW - Janus Kinase 2/genetics

KW - Myeloproliferative Disorders/diagnosis/genetics

U2 - 10.3324/haematol.2012.064683

DO - 10.3324/haematol.2012.064683

M3 - SCORING: Journal article

VL - 97

SP - 1582

EP - 1585

JO - HAEMATOLOGICA

JF - HAEMATOLOGICA

SN - 0390-6078

IS - 10

M1 - 10

ER -