A case report of acute myeloid leukemia and neurofibromatosis 1

  • Chiara Sartor Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Italy.
  • Cristina Papayannidis Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Italy.
  • Maria Chiara Abbenante Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Italy.
  • Antonio Curti Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Italy.
  • Nicola Polverelli Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Italy.
  • Emanuela Ottaviani Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Italy.
  • Ilaria Iacobucci Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Italy.
  • Viviana Guadagnuolo Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Italy.
  • Giovanni Martinelli | martg@tin.it Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Italy.

Abstract

We report a case of a 65-year old patient affected by neurofibromatosis 1, documented by the presence of germ-line mutation on the NF1 gene, who developed various hyperproliferative malignant and benign diseases. He was brought to our attention for the diagnosis of acute myeloid leukemia revealed by major fatigue and dyspnea. The disease characteristics at diagnosis were hyperleukocytosis and complex karyotype with the inversion of the chromosome 16, classifying as a high-risk leukemia. The association between leukemia and neurofibromatosis 1 is controversial and needs to be further investigated. Nevertheless, such patients present a wide number of comorbidities that make therapeutic strategies most difficult.

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Published
2013-07-03
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Section
Case Reports
Keywords:
acute myeloid leukemia, neurofibromatosis type 1, NF1, Von Recklinghausen disease
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How to Cite
Sartor, C., Papayannidis, C., Abbenante, M. C., Curti, A., Polverelli, N., Ottaviani, E., Iacobucci, I., Guadagnuolo, V., & Martinelli, G. (2013). A case report of acute myeloid leukemia and neurofibromatosis 1. Hematology Reports, 5(2), e8. https://doi.org/10.4081/hr.2013.e8

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