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Year : 2015  |  Volume : 11  |  Issue : 2  |  Page : 498-499

Acute myeloid leukemia in a child with segmental neurofibromatosis

1 Department of Pediatric Neurology, Cukurova University Faculty of Medicine, Adana, Turkey
2 Department of Pediatric Hematology, Cukurova University Faculty of Medicine, Adana, Turkey

Date of Web Publication7-Jul-2015

Correspondence Address:
Faruk Incecik
Department of Pediatric Neurology, Toros mah. 41. Sok, Ömer Bayram Havuz apt, kat: 11, No: 11, Adana
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0973-1482.139540

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How to cite this article:
Incecik F, Hergüner OM, Karagün B, Altunbasak S. Acute myeloid leukemia in a child with segmental neurofibromatosis. J Can Res Ther 2015;11:498-9

How to cite this URL:
Incecik F, Hergüner OM, Karagün B, Altunbasak S. Acute myeloid leukemia in a child with segmental neurofibromatosis. J Can Res Ther [serial online] 2015 [cited 2020 Feb 28];11:498-9. Available from: http://www.cancerjournal.net/text.asp?2015/11/2/498/139540


Neurofibromatosis (NF) is a disorder with a wide spectrum of clinical manifestations. There are two dominant types of NF In NF-1, the gene mutation is on the proximal long arm of chromosome 17 (17q11.2). Segmental neurofibromatosis is a rare variant of NF in which skin lesions are confined to a circumscribed body segment. [1] Children with NF-1 are at increased risk of developing benign and malignant solid tumors. [2] We report an 11-year-old girl with segmental NF and acute myeloid leukemia.

A 11-year-old girl was admitted to our hospital because of weakness, loss of appetite, and weight loss for one month. Her parents were first degree relatives. There was no family history of neurofibromatosis. On examination, the vital signs and anthropometric measures were in normal limits. Petechiae and ecchymose were on the trunk and both arm. She had no lymphadenopathy or hepatosplenomegaly. Also, she had multiple cafeau-lait spots in the right thoracic, abdomen, back, and arm [Figure 1]. Freckling was present in the axillary region. No neurofibroma was evident. Ophthalmic evaluation did not show Lisch nodules in the iris. In laboratory studies, the complete blood count showed a white count of 48.300 per mm 3 with 80% blast forms, hemoglobin 10.6 gm/dL, and platelet count 15,000 per mm 3 . A bone marrow aspirate was cellular with 80% blast forms. Blast morphology and immunophenotype were consistent with AML-M2. The brain magnetic resonance imaging and abdomen ultrasonography were normal.

Segmental NF is a rare disorder characterized by cafιau lait spots and neurofibromas, or only neurofibromas, limited to one region of the body. [1] It has been suggested that segmental NF results from a postzygotic NF-1 gene mutation. It occurs in all age groups, has a mean age of onset of 28 years, with a slight male preponderance. [2] Most patients with segmental NF do not have a family history of NF. Cervical and thoracic regions are commonly involved and the disease is unilateral in the majority. Distribution may be unilateral or bilateral and symmetric or asymmetric. Systemic complications typically associated with NF-1 are rare and occur in less than 10% of patients. [2] Malignancies rarely occur in association with segmental NF. [3]
Figure 1: Multiple café-au-lait spots in the right thoracic, abdomen, back, and arm

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Mutations in the NF-1 gene result in loss of function of neurofibromin, a guanosine triphosphatase-activating protein that helps maintain the proto-oncogene Ras in its inactive form. Loss of neurofibromin results in increased proliferation and tumorigenesis. As a result, people with NF-1 are at increased risk of developing nervous and non-nervous system malignancies. [2] . The risk of young children with NF-1 developing a malignant myeloid disorder is 200 to 500 times greater than the normal risk. [4] In literature, among leukemias, NF-1 is predominantly associated with nonlymphocytic leukemia (juvenile myelomonocytic leukemia). [2] Consequently, childhood acute lymphocytic leukemia has been rarely reported in association with NF-1. [2],[3] Dang et al. [4] reported a patient with segmental NF who developed Hodgkin lymphoma. Kratz et al. [5] describe two children with NF-1 who developed AML, one in association with t(8;21) and another with trisomy 8. Our patient had acute myeloid leukemia and segmental NF. This is the first report, to our knowledge, of acute myeloid leukemia in a pediatric patient with segmental NF.

As a result, the well known association between NF-1 and myeloid disorders in children, in our case revealed, are predisposed to myeloid malignancies in patients with segmental NF.

 > References Top

Hager CM, Cohen PR, Tschen JA. Segmental neurofibromatosis: Case reports and review. J Am Acad Dermatol 1997;37:864-9.  Back to cited text no. 1
Side L, Taylor B, Cayouette M, Conner E, Thompson P, Luce M, et al. Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders. N Engl J Med 1997;336:1713-20.  Back to cited text no. 2
Schwarz J, Belzberg AJ. Malignant peripheral nerve sheath tumors in the setting of segmental neurofibromatosis. Case report. J Neurosurg 2000;92:342-6.  Back to cited text no. 3
Dang JD, Cohen PR. Segmental neurofibromatosis of the distal arm in a man who developed Hodgkin lymphoma. Int J Dermatol 2009;48:1105-9.  Back to cited text no. 4
Kratz CP, Antonietti L, Shannon KM, Dole MG, Friebert SE. Acute myeloid leukemia associated with t(8;21) or trisomy 8 in children with neurofibromatosis, type 1. J Pediatr Hematol Oncol 2003;25:343.  Back to cited text no. 5


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