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.
Highlights
We report a case of a 65-year old patient affected by neurofibromatosis 1, documented by the presence of germ-line mutation on the Neurofibromatosis type 1 (NF1) gene, who developed various hyperproliferative ly malignant and benign diseases
He was brought to our attention for the diagnosis of acute n myeloid leukemia revealed by major fatigue and o dyspnea
The associu ation between leukemia and neurofibromatosis l 1 is controversial and needs to be further invesia tigated. Such patients present a wide number of comorbidities that make therac peutic strategies most difficult. mer Introduction m Neurofibrosis type 1 o Neurofibromatosis type 1 (NF1), otherwise c known as Von Recklinghausen disease, is a - neurocutaneous genetic disorder with an auton somal dominant transmission
Summary
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 ly malignant and benign diseases. He was brought to our attention for the diagnosis of acute n myeloid leukemia revealed by major fatigue and o dyspnea. The associu ation between leukemia and neurofibromatosis l 1 is controversial and needs to be further invesia tigated. Such patients present a wide number of comorbidities that make therac peutic strategies most difficult.
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