Use of CBL exon 8 and 9 mutations in diagnosis of myeloproliferative neoplasms and myelodysplastic/myeloproliferative disorders: an analysis of 636 cases.

Susanne Schnittger; Ulrike Bacher; Tamara Alpermann; Andreas Reiter; Madlen Ulke; Frank Dicker; Christiane Eder; Alexander Kohlmann; Vera Grossmann; Andreas Kowarsch; Wolfgang Kern; Claudia Haferlach; Torsten Haferlach

doi:10.3324/haematol.2012.065375

Use of CBL exon 8 and 9 mutations in diagnosis of myeloproliferative neoplasms and myelodysplastic/myeloproliferative disorders: an analysis of 636 cases.

Standard

Use of CBL exon 8 and 9 mutations in diagnosis of myeloproliferative neoplasms and myelodysplastic/myeloproliferative disorders: an analysis of 636 cases. / Schnittger, Susanne; Bacher, Ulrike; Alpermann, Tamara; Reiter, Andreas; Ulke, Madlen; Dicker, Frank; Eder, Christiane; Kohlmann, Alexander; Grossmann, Vera; Kowarsch, Andreas; Kern, Wolfgang; Haferlach, Claudia; Haferlach, Torsten.

In: HAEMATOLOGICA, Vol. 97, No. 12, 12, 2012, p. 1890-1894.

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

Harvard

Schnittger, S, Bacher, U, Alpermann, T, Reiter, A, Ulke, M, Dicker, F, Eder, C, Kohlmann, A, Grossmann, V, Kowarsch, A, Kern, W, Haferlach, C & Haferlach, T 2012, 'Use of CBL exon 8 and 9 mutations in diagnosis of myeloproliferative neoplasms and myelodysplastic/myeloproliferative disorders: an analysis of 636 cases.', HAEMATOLOGICA, vol. 97, no. 12, 12, pp. 1890-1894. https://doi.org/10.3324/haematol.2012.065375

APA

Schnittger, S., Bacher, U., Alpermann, T., Reiter, A., Ulke, M., Dicker, F., Eder, C., Kohlmann, A., Grossmann, V., Kowarsch, A., Kern, W., Haferlach, C., & Haferlach, T. (2012). Use of CBL exon 8 and 9 mutations in diagnosis of myeloproliferative neoplasms and myelodysplastic/myeloproliferative disorders: an analysis of 636 cases. HAEMATOLOGICA, 97(12), 1890-1894. [12]. https://doi.org/10.3324/haematol.2012.065375

Vancouver

Schnittger S, Bacher U, Alpermann T, Reiter A, Ulke M, Dicker F et al. Use of CBL exon 8 and 9 mutations in diagnosis of myeloproliferative neoplasms and myelodysplastic/myeloproliferative disorders: an analysis of 636 cases. HAEMATOLOGICA. 2012;97(12):1890-1894. 12. https://doi.org/10.3324/haematol.2012.065375

Bibtex

@article{db9ddba291e946478bde1d6d21f9c4a7,

title = "Use of CBL exon 8 and 9 mutations in diagnosis of myeloproliferative neoplasms and myelodysplastic/myeloproliferative disorders: an analysis of 636 cases.",

abstract = "We analyzed 636 patients with diverse myeloproliferative neoplasms or myelodysplastic/myeloproliferative neoplasms for mutations of the Casitas B-cell lymphoma gene (CBL(mut)) in exons 8 and 9 and performed correlations to other genetic alterations. CBL(mut) were detected in 63 of 636 (9.9%) of these selected patients. CBL(mut) were more frequent in myelodysplastic/myeloproliferative neoplasms than myeloproliferative neoplasms (51 of 328, 15.5% vs. 12 of 291, 4.1%; P<0.001). Frequency was 48 of 278 (17.3%) in chronic myelomonocytic leukemia and 3 of 33 (9.1%) in unclassifiable myelodysplastic/myeloproliferative neoplasms. CBL(mut) was not detected in polycythemia vera, primary myelofibrosis, essential thrombocythemia, or refractory anemia with ring sideroblasts and marked thrombocytosis. CBL(mut) were underrepresented in JAK2(V617F) mutated as compared to JAK2V617(wt) cases (P<0.001), and mutually exclusive of JAK2exon12(mut) and MPLW515(mut). CBL(mut) were associated with monosomy 7 (P=0.008) and TET2(mut) (P=0.003). In chronic myelomonocytic leukemia, CBL(mut) had no significant impact on survival outcomes. Therefore, CBL(mut) are frequent in chronic myelomonocytic leukemia, absent in classical myeloproliferative neoplasms, and are only exceptionally found in coincidence with JAK-STAT pathway activating mutations.",

author = "Susanne Schnittger and Ulrike Bacher and Tamara Alpermann and Andreas Reiter and Madlen Ulke and Frank Dicker and Christiane Eder and Alexander Kohlmann and Vera Grossmann and Andreas Kowarsch and Wolfgang Kern and Claudia Haferlach and Torsten Haferlach",

year = "2012",

doi = "10.3324/haematol.2012.065375",

language = "English",

volume = "97",

pages = "1890--1894",

journal = "HAEMATOLOGICA",

issn = "0390-6078",

publisher = "Ferrata Storti Foundation",

number = "12",

}

RIS

TY - JOUR

T1 - Use of CBL exon 8 and 9 mutations in diagnosis of myeloproliferative neoplasms and myelodysplastic/myeloproliferative disorders: an analysis of 636 cases.

AU - Schnittger, Susanne

AU - Bacher, Ulrike

AU - Alpermann, Tamara

AU - Reiter, Andreas

AU - Ulke, Madlen

AU - Dicker, Frank

AU - Eder, Christiane

AU - Kohlmann, Alexander

AU - Grossmann, Vera

AU - Kowarsch, Andreas

AU - Kern, Wolfgang

AU - Haferlach, Claudia

AU - Haferlach, Torsten

PY - 2012

Y1 - 2012

N2 - We analyzed 636 patients with diverse myeloproliferative neoplasms or myelodysplastic/myeloproliferative neoplasms for mutations of the Casitas B-cell lymphoma gene (CBL(mut)) in exons 8 and 9 and performed correlations to other genetic alterations. CBL(mut) were detected in 63 of 636 (9.9%) of these selected patients. CBL(mut) were more frequent in myelodysplastic/myeloproliferative neoplasms than myeloproliferative neoplasms (51 of 328, 15.5% vs. 12 of 291, 4.1%; P<0.001). Frequency was 48 of 278 (17.3%) in chronic myelomonocytic leukemia and 3 of 33 (9.1%) in unclassifiable myelodysplastic/myeloproliferative neoplasms. CBL(mut) was not detected in polycythemia vera, primary myelofibrosis, essential thrombocythemia, or refractory anemia with ring sideroblasts and marked thrombocytosis. CBL(mut) were underrepresented in JAK2(V617F) mutated as compared to JAK2V617(wt) cases (P<0.001), and mutually exclusive of JAK2exon12(mut) and MPLW515(mut). CBL(mut) were associated with monosomy 7 (P=0.008) and TET2(mut) (P=0.003). In chronic myelomonocytic leukemia, CBL(mut) had no significant impact on survival outcomes. Therefore, CBL(mut) are frequent in chronic myelomonocytic leukemia, absent in classical myeloproliferative neoplasms, and are only exceptionally found in coincidence with JAK-STAT pathway activating mutations.

AB - We analyzed 636 patients with diverse myeloproliferative neoplasms or myelodysplastic/myeloproliferative neoplasms for mutations of the Casitas B-cell lymphoma gene (CBL(mut)) in exons 8 and 9 and performed correlations to other genetic alterations. CBL(mut) were detected in 63 of 636 (9.9%) of these selected patients. CBL(mut) were more frequent in myelodysplastic/myeloproliferative neoplasms than myeloproliferative neoplasms (51 of 328, 15.5% vs. 12 of 291, 4.1%; P<0.001). Frequency was 48 of 278 (17.3%) in chronic myelomonocytic leukemia and 3 of 33 (9.1%) in unclassifiable myelodysplastic/myeloproliferative neoplasms. CBL(mut) was not detected in polycythemia vera, primary myelofibrosis, essential thrombocythemia, or refractory anemia with ring sideroblasts and marked thrombocytosis. CBL(mut) were underrepresented in JAK2(V617F) mutated as compared to JAK2V617(wt) cases (P<0.001), and mutually exclusive of JAK2exon12(mut) and MPLW515(mut). CBL(mut) were associated with monosomy 7 (P=0.008) and TET2(mut) (P=0.003). In chronic myelomonocytic leukemia, CBL(mut) had no significant impact on survival outcomes. Therefore, CBL(mut) are frequent in chronic myelomonocytic leukemia, absent in classical myeloproliferative neoplasms, and are only exceptionally found in coincidence with JAK-STAT pathway activating mutations.

U2 - 10.3324/haematol.2012.065375

DO - 10.3324/haematol.2012.065375

M3 - SCORING: Journal article

VL - 97

SP - 1890

EP - 1894

JO - HAEMATOLOGICA

JF - HAEMATOLOGICA

SN - 0390-6078

IS - 12

M1 - 12

ER -