Detection of BRAF mutations in patients with hairy cell leukemia and related lymphoproliferative disorders

Piers Blombery, Stephen Q Wong, Chelsee A Hewitt, Alexander Dobrovic, Ellen Maxwell, Surender Juneja, George Grigoriadis, David A Westerman

    Research output: Contribution to journalArticleResearchpeer-review

    Abstract

    Hairy cell leukemia has been shown to be strongly associated with the BRAF V600E mutation. We screened 59 unenriched archived bone marrow aspirate and peripheral blood samples from 51 patients with hairy cell leukemia using high resolution melting analysis and confirmatory Sanger sequencing. The BRAF V600E mutation was detected in 38 samples (from 36 patients). The BRAF V600E mutation was detected in all samples with disease involvement above the limit of sensitivity of the techniques used. Thirty-three of 34 samples from other hematologic malignancies were negative for BRAF mutations. A BRAF K601E mutation was detected in a patient with splenic marginal zone lymphoma. Our data support the recent finding of a disease defining point mutation in hairy cell leukemia. Furthermore, high resolution melting with confirmatory Sanger sequencing are useful methods that can be employed in routine diagnostic laboratories to detect BRAF mutations in patients with hairy cell leukemia and related lymphoproliferative disorders. A? 2012 Ferrata Storti Foundation.
    Original languageEnglish
    Pages (from-to)780 - 783
    Number of pages4
    JournalHaematologica: the hematology journal
    Volume97
    Issue number5
    DOIs
    Publication statusPublished - 2012

    Cite this

    Blombery, P., Wong, S. Q., Hewitt, C. A., Dobrovic, A., Maxwell, E., Juneja, S., ... Westerman, D. A. (2012). Detection of BRAF mutations in patients with hairy cell leukemia and related lymphoproliferative disorders. Haematologica: the hematology journal, 97(5), 780 - 783. https://doi.org/10.3324/haematol.2011.054874
    Blombery, Piers ; Wong, Stephen Q ; Hewitt, Chelsee A ; Dobrovic, Alexander ; Maxwell, Ellen ; Juneja, Surender ; Grigoriadis, George ; Westerman, David A. / Detection of BRAF mutations in patients with hairy cell leukemia and related lymphoproliferative disorders. In: Haematologica: the hematology journal. 2012 ; Vol. 97, No. 5. pp. 780 - 783.
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    abstract = "Hairy cell leukemia has been shown to be strongly associated with the BRAF V600E mutation. We screened 59 unenriched archived bone marrow aspirate and peripheral blood samples from 51 patients with hairy cell leukemia using high resolution melting analysis and confirmatory Sanger sequencing. The BRAF V600E mutation was detected in 38 samples (from 36 patients). The BRAF V600E mutation was detected in all samples with disease involvement above the limit of sensitivity of the techniques used. Thirty-three of 34 samples from other hematologic malignancies were negative for BRAF mutations. A BRAF K601E mutation was detected in a patient with splenic marginal zone lymphoma. Our data support the recent finding of a disease defining point mutation in hairy cell leukemia. Furthermore, high resolution melting with confirmatory Sanger sequencing are useful methods that can be employed in routine diagnostic laboratories to detect BRAF mutations in patients with hairy cell leukemia and related lymphoproliferative disorders. A? 2012 Ferrata Storti Foundation.",
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    year = "2012",
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    language = "English",
    volume = "97",
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    Detection of BRAF mutations in patients with hairy cell leukemia and related lymphoproliferative disorders. / Blombery, Piers; Wong, Stephen Q; Hewitt, Chelsee A; Dobrovic, Alexander; Maxwell, Ellen; Juneja, Surender; Grigoriadis, George; Westerman, David A.

    In: Haematologica: the hematology journal, Vol. 97, No. 5, 2012, p. 780 - 783.

    Research output: Contribution to journalArticleResearchpeer-review

    TY - JOUR

    T1 - Detection of BRAF mutations in patients with hairy cell leukemia and related lymphoproliferative disorders

    AU - Blombery, Piers

    AU - Wong, Stephen Q

    AU - Hewitt, Chelsee A

    AU - Dobrovic, Alexander

    AU - Maxwell, Ellen

    AU - Juneja, Surender

    AU - Grigoriadis, George

    AU - Westerman, David A

    PY - 2012

    Y1 - 2012

    N2 - Hairy cell leukemia has been shown to be strongly associated with the BRAF V600E mutation. We screened 59 unenriched archived bone marrow aspirate and peripheral blood samples from 51 patients with hairy cell leukemia using high resolution melting analysis and confirmatory Sanger sequencing. The BRAF V600E mutation was detected in 38 samples (from 36 patients). The BRAF V600E mutation was detected in all samples with disease involvement above the limit of sensitivity of the techniques used. Thirty-three of 34 samples from other hematologic malignancies were negative for BRAF mutations. A BRAF K601E mutation was detected in a patient with splenic marginal zone lymphoma. Our data support the recent finding of a disease defining point mutation in hairy cell leukemia. Furthermore, high resolution melting with confirmatory Sanger sequencing are useful methods that can be employed in routine diagnostic laboratories to detect BRAF mutations in patients with hairy cell leukemia and related lymphoproliferative disorders. A? 2012 Ferrata Storti Foundation.

    AB - Hairy cell leukemia has been shown to be strongly associated with the BRAF V600E mutation. We screened 59 unenriched archived bone marrow aspirate and peripheral blood samples from 51 patients with hairy cell leukemia using high resolution melting analysis and confirmatory Sanger sequencing. The BRAF V600E mutation was detected in 38 samples (from 36 patients). The BRAF V600E mutation was detected in all samples with disease involvement above the limit of sensitivity of the techniques used. Thirty-three of 34 samples from other hematologic malignancies were negative for BRAF mutations. A BRAF K601E mutation was detected in a patient with splenic marginal zone lymphoma. Our data support the recent finding of a disease defining point mutation in hairy cell leukemia. Furthermore, high resolution melting with confirmatory Sanger sequencing are useful methods that can be employed in routine diagnostic laboratories to detect BRAF mutations in patients with hairy cell leukemia and related lymphoproliferative disorders. A? 2012 Ferrata Storti Foundation.

    UR - http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3342983/pdf/0970780.pdf

    U2 - 10.3324/haematol.2011.054874

    DO - 10.3324/haematol.2011.054874

    M3 - Article

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    JO - Haematologica: the hematology journal

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    SN - 0390-6078

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