SETBP1 mutation analysis in 944 patients with MDS and AML

Thol, Felicitas; Kj, Suchanek; Koenecke, Christian; Stadler, Michael; Platzbecker, Uwe; Thiede, Christian; Schroeder, Thomas; Kobbe, Guido; Kade, Sofia; Löffeld, Patrick; Banihosseini, Seyede Zahra; Bug, G.; Ottmann, Oliver G.; Hofmann, W; Krauter, Jürgen; Kröger, Nicolaus; Ganser, Arnold; Heuser, Michael

doi:10.1038/leu.2013.145

Cited by 59 publications

(46 citation statements)

References 16 publications

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“…9 We excluded mutations from further validation with allelic burden below 15% as these mutations cannot be validated by Sanger sequencing and their pathogenic role is unclear. SETBP1 mutations are recurrent in MDS at a low frequency, 10 and are associated with atypical chronic myeloid leukemia (CML) and ASXL1 mutations as in our patient.…”

supporting

confidence: 51%

Genetic characterization of acquired aplastic anemia by targeted sequencing

et al. 2014

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supporting

confidence: 51%

Genetic characterization of acquired aplastic anemia by targeted sequencing

et al. 2014

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“…Further analysis revealed SETBP1 mutations in unclassified of MDS/MPN (10%), CMML (4%), and one of four cases of CNL, but not in a wide range of other hematologic malignancies or cell lines of lymphoma and solid tumors [66]. Other investigators sought to reproduce these findings and reported SETBP1 mutation frequencies of up to 32, 7, 3, 2, and 2.5% in aCML, CMML, PMF, MDS, and secondary AML, respectively [67][68][69][70]. An association with high leukocyte counts and an independent detrimental effect on prognosis was confirmed in most but not all series.…”

Section: Setbp1 Mutations In Cnlmentioning

confidence: 99%

Chronic neutrophilic leukemia 2016: Update on diagnosis, molecular genetics, prognosis, and management

Elliott

Tefferi

2016

American J Hematol

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Chronic neutrophilic leukemia (CNL) is a potentially aggressive myeloproliferative neoplasm, for which current WHO diagnostic criteria include leukocytosis of ≥25 × 109/L (of which >80% are neutrophils) and with <10 and <1% circulating immature granulocytes and blasts, respectively without dysplasia, clinical, or molecular criteria for other myeloproliferative disorders, nor an identifiable cause for physiologic neutrophilia in the absence of markers of myeloid clonality. Such a pathogenic clonal marker has now been identified as a somatic activating mutation of CSF3R, most commonly CSF3R T618I, thus demanding revision of the current WHO diagnostic classification to include the molecular criterion of mutated CSF3R. The clinical presentation, disease course and prognosis of CSF‐R mutated CNL have been recently outlined. Co‐operative mutations in SETBP1 and ASXL1 appear to be of prognostic significance and correlate with disease progression. Advances in the understanding of the molecular pathogenesis of CNL, have not yet fully translated into satisfactory therapeutic strategies, but the foundations for these are strengthening. Am. J. Hematol. 91:342–349, 2016. © 2015 Wiley Periodicals, Inc.

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“…These data suggest that loss of target control by miR-142 may be a novel mechanism in the pathogenesis of leukemia. Guido Kobbe, 3 Gesine Bug, 4 Oliver Ottmann, 4 Wolf-Karsten Hofmann, 5 Nicolaus Kröger, 6 Walter Fiedler, 7 Richard Schlenk, 8 Konstanze Döhner, 8 Hartmut Döhner, 8 Jürgen Krauter, 1,9 …”

Section: 5%; P=0057)mentioning

confidence: 99%