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Case Reports
. 2021 Feb;192(3):665-667.
doi: 10.1111/bjh.17234. Epub 2020 Nov 20.

Adult-onset acute myeloid leukaemia in a patient with germline mutation of CBL

Affiliations
Case Reports

Adult-onset acute myeloid leukaemia in a patient with germline mutation of CBL

Alaa M Ali et al. Br J Haematol. 2021 Feb.
No abstract available

Keywords: CBL syndrome; acute myeloid leukaemia; juvenile myelomonocytic leukaemia; loss of heterozygosity; uniparental isodisomy.

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References

    1. Niemeyer C, Kang M, Shin D, Furlan I, Erlacher M, Bunin N, et al. Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia. Nat Genet. 2010;42(9):794-800.
    1. Kales S, Ryan P, Nau M, Lipkowitz S. Cbl and human myeloid neoplasms: the Cbl oncogene comes of age: figure 1. Can Res. 2010;70:4789-94.
    1. Becker H, Yoshida K, Blagitko-Dorfs N, Claus R, Pantic M, Abdelkarim M, et al. Tracing the development of acute myeloid leukemia in CBL syndrome. Blood. 2014;123(12):1883-6.
    1. Kohlmann A, Grossmann V, Klein H, Schindela S, Weiss T, Kazak B, et al. Next-generation sequencing technology reveals a characteristic pattern of molecular mutations in 72.8% of chronic myelomonocytic leukemia by detecting frequent alterations in TET2, CBL, RAS, and RUNX1. J Clin Oncol. 2010;28(24):3858-65.
    1. Aranaz P, Hurtado C, Erquiaga I, Migueliz I, Ormazabal C, Cristobal I, et al. CBL mutations in myeloproliferative neoplasms are also found in the gene's proline-rich domain and in patients with the V617FJAK2. Haematologica. 2012;97(8):1234-41.

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