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Acute myelogenous leukemia in a patient with Li–Fraumeni syndrome treated with valproic acid, theophyllamine and all-trans retinoic acid: a case report

Leukemia volume 20, pages 734–736 (2006)Cite this article

Li–Fraumeni syndrome (LFS) is a genetic predisposition to cancer development at young age.1, 2, 3 The underlying genetic defect is usually a germline mutation in the TP53 gene or mutations in genes encoding p53-regulatory enzymes.3 Common clinical characteristics of these patients include: (i) childhood malignancies; (ii) typical malignancies like soft tissue sarcomas, osteosarcomas, brain tumors and adrenocortical tumors; and (iii) several family members with typical malignancies or other malignancies diagnosed before the age of 60.

Somatic TP53 mutations are uncommon in acute myelogenous leukemia (AML)4 and AML is an uncommon malignancy in LFS.1 Here, we report a patient with LFS and adult AML. The patient had a germ-line TP53 mutation and the AML cells showed multiple cytogenetic abnormalities. She was treated with the histone deacetylase (HDAC) inhibitor valproic acid in combination with all-trans retinoic acid (ATRA) and theophyllamine. The patient was included in a clinical study after written informed consent and the study was approved by the local Ethics Committee.

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Acknowledgements

The work was supported by the Norwegian Cancer Society, the Research Council of Norway and the Bergen Translational Research Grant Program.

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Authors and Affiliations

  1. Section for Hematology, Institute of Medicine, The University of Bergen, Bergen, Norway

    N Ånensen, J Skavland, C Stapnes, A Ryningen, B T Gjertsen & Ø Bruserud

  2. Department of genetics, Institute for cancer research, Norwegian Radium Hospital, Oslo, Norway

    A-L Børresen-Dale

  3. Division of Hematology, Department of Medicine, Haukeland University Hospital,

    B T Gjertsen & Ø Bruserud

  4. Bergen, Norway

    B T Gjertsen & Ø Bruserud

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  1. N Ånensen
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  2. J Skavland
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Correspondence to Ø Bruserud.

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Ånensen, N., Skavland, J., Stapnes, C. et al. Acute myelogenous leukemia in a patient with Li–Fraumeni syndrome treated with valproic acid, theophyllamine and all-trans retinoic acid: a case report. Leukemia 20, 734–736 (2006). https://doi.org/10.1038/sj.leu.2404117

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