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      A Case Report of Acute Myeloid Leukemia and Neurofibromatosis 1

      case-report

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          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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          Neurofibromatosis type 1.

          Kevin Boyd, Bruce Korf, Amy Theos (2009)
          Neurofibromatosis type 1 (NF1) is an autosomal dominant, multisystem disorder affecting approximately 1 in 3500 people. Significant advances in the understanding of the pathophysiology of NF1 have been made in the last decade. While no medical therapies for NF1 are currently available, trials are ongoing to discover and test medical treatments for the various manifestations of NF1, primarily plexiform neurofibromas, learning disabilities, and optic pathway gliomas. In addition, mutational analysis has become available on a clinical basis and is useful for diagnostic confirmation in individuals who do not fulfill diagnostic criteria or when a prenatal diagnosis is desired. There are several disorders that may share overlapping features with NF1; in 2007, a disorder with cutaneous findings similar to NF1 was described. This paper addresses the dermatologist's role in diagnosis and management of NF1 and describes the variety of cutaneous and extracutaneous findings in NF1 to which the dermatologist may be exposed. After completing this learning activity, participants should be able to discuss the indications and limitations of genetic testing in neurofibromatosis type 1, distinguish common and uncommon cutaneous findings, and recognize the dermatologist's role in diagnosis and management.
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            Acquired copy number alterations in adult acute myeloid leukemia genomes.

            E A Shannon, Elaine R. Mardis, Eric Ley … (2009)
            Cytogenetic analysis of acute myeloid leukemia (AML) cells has accelerated the identification of genes important for AML pathogenesis. To complement cytogenetic studies and to identify genes altered in AML genomes, we performed genome-wide copy number analysis with paired normal and tumor DNA obtained from 86 adult patients with de novo AML using 1.85 million feature SNP arrays. Acquired copy number alterations (CNAs) were confirmed using an ultra-dense array comparative genomic hybridization platform. A total of 201 somatic CNAs were found in the 86 AML genomes (mean, 2.34 CNAs per genome), with French-American-British system M6 and M7 genomes containing the most changes (10-29 CNAs per genome). Twenty-four percent of AML patients with normal cytogenetics had CNA, whereas 40% of patients with an abnormal karyotype had additional CNA detected by SNP array, and several CNA regions were recurrent. The mRNA expression levels of 57 genes were significantly altered in 27 of 50 recurrent CNA regions <5 megabases in size. A total of 8 uniparental disomy (UPD) segments were identified in the 86 genomes; 6 of 8 UPD calls occurred in samples with a normal karyotype. Collectively, 34 of 86 AML genomes (40%) contained alterations not found with cytogenetics, and 98% of these regions contained genes. Of 86 genomes, 43 (50%) had no CNA or UPD at this level of resolution. In this study of 86 adult AML genomes, the use of an unbiased high-resolution genomic screen identified many genes not previously implicated in AML that may be relevant for pathogenesis, along with many known oncogenes and tumor suppressor genes.
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              Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms.

              Bruce Gelb, Marco Tartaglia (2010)
              RAS GTPases control a major signaling network implicated in several cellular functions, including cell fate determination, proliferation, survival, differentiation, migration, and senescence. Within this network, signal flow through the RAF-MEK-ERK pathway-the first identified mitogen-associated protein kinase (MAPK) cascade-mediates early and late developmental processes controlling morphology determination, organogenesis, synaptic plasticity, and growth. Signaling through the RAS-MAPK cascade is tightly controlled; and its enhanced activation represents a well-known event in oncogenesis. Unexpectedly, in the past few years, inherited dysregulation of this pathway has been recognized as the cause underlying a group of clinically related disorders sharing facial dysmorphism, cardiac defects, reduced postnatal growth, ectodermal anomalies, variable cognitive deficits, and susceptibility to certain malignancies as major features. These disorders are caused by heterozygosity for mutations in genes encoding RAS proteins, regulators of RAS function, modulators of RAS interaction with effectors, or downstream signal transducers. Here, we provide an overview of the phenotypic spectrum associated with germline mutations perturbing RAS-MAPK signaling, the unpredicted molecular mechanisms converging toward the dysregulation of this signaling cascade, and major genotype-phenotype correlations. © 2010 New York Academy of Sciences.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Hematol Rep
                Journal ID (iso-abbrev): Hematol Rep
                Journal ID (publisher-id): HR
                Title: Hematology Reports
                Publisher: PAGEPress Publications
                ISSN (Print): 2038-8322
                ISSN (Electronic): 2038-8330
                Publication date (Electronic): 03 July 2013
                Publication date Collection: 28 June 2013
                Volume: 5
                Issue: 2
                Pages: 28-29
                Affiliations
                [1 ]Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna , Italy
                Author notes
                Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, via Massarenti 9, 40138 Bologna, Italy. Tel. +39.051.6363829 - Fax: +39.051.6364037 E-mail: giovanni.martinelli2@ 123456unibo.it
                Conflict of interests: the authors declare no potential conflict of interests.
                This work is licensed under a Creative Commons Attribution NonCommercial 3.0 License (CC BYNC 3.0).
                Article
                DOI: 10.4081/hr.2013.e8
                PMC ID: 3719102
                PubMed ID: 23888244
                SO-VID: 5203154b-5c62-4176-808e-15ae4a04ee13
                Copyright © ©Copyright C. Sartor et al.
                History
                Date received : 02 April 2013
                Date accepted : 16 April 2013
                Page count
                Figures: 0, Tables: 0, Equations: 0, References: 20, Pages: 2
                Categories
                Subject: Case Report

                ScienceOpen disciplines: Hematology
                Keywords: acute myeloid leukemia,neurofibromatosis type 1,,nf1,von recklinghausen disease
                Data availability:
                ScienceOpen disciplines: Hematology
                Keywords: acute myeloid leukemia, neurofibromatosis type 1,, nf1, von recklinghausen disease

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