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  Table of Contents  
Year : 2015  |  Volume : 52  |  Issue : 3  |  Page : 298-299

Fatal glioblastoma multiforme in a child with neurofibromatosis type 1

1 Department of Pediatric Neurology, Medical Faculty, Cukurova University, Adana, Turkey
2 Department of Pediatric Oncology, Medical Faculty, Cukurova University, Adana, Turkey
3 Department of Pathology, Medical Faculty, Cukurova University, Adana, Turkey

Date of Web Publication18-Feb-2016

Correspondence Address:
F Incecik
Department of Pediatric Neurology, Medical Faculty, Cukurova University, Adana
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0019-509X.176704

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How to cite this article:
Incecik F, Ozlem Hergüner M O, Bayram I, Zorludemir S, Altunbasak S. Fatal glioblastoma multiforme in a child with neurofibromatosis type 1. Indian J Cancer 2015;52:298-9

How to cite this URL:
Incecik F, Ozlem Hergüner M O, Bayram I, Zorludemir S, Altunbasak S. Fatal glioblastoma multiforme in a child with neurofibromatosis type 1. Indian J Cancer [serial online] 2015 [cited 2021 May 9];52:298-9. Available from: https://www.indianjcancer.com/text.asp?2015/52/3/298/176704


A six-year-old girl, was admitted to our hospital because of complained of progressive balance disturbance, headaches, vomiting, and seizure. At the age of two years, she was noted to have multiple caféau lait spots over her abdomen, back, and legs. She also had an asymptomatic optic pathway glioma at time of diagnosis. Magnetic resonance imaging (MRI) of the brain was normal.

On admission, the patient had 10 variably sized café-au-lait patches ranging in diameter from 3 to 15 mm. Symptoms started around one month before the admission. MRI of the brain showed a lesion in the left cerebellar hemisphere that enhanced after gadolinium administration [Figure 1]. Neurosurgical resection of the lesion was subsequently performed. The pathologic findings confirmed the diagnosis of glioblastoma multiforme [Figure 2]a,[Figure 2]b,[Figure 2]c. The GBM with Neurofibromatosis Type 1 (NF1) was diagnosed based on these clinical, radiological and pathological criteria. The patient underwent both radiotherapy and chemotherapy after surgery. According to our chemotherapy schedule, temozolamide 200 mg/m 2/day (five days), etoposide 100 mg/m 2/day (two days), and carboplatine 250 mg/m 2/day (two days) were was administered three cure. Standard conformational radiotherapy was performed 4000 cGy (200 cGy/day). Four months later, MRI showed progression of the tumor. She died shortly thereafter.
Figure 1: Magnetic resonance imaging at age six years. T2.weighted axial image shows a mass lesion in the left cerebellum

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Figure 2: (a) Histological features of glioblastoma. H and E ×400, (b) The tumour cells show immunoreactivity to glial fibrillary acidic protein (GFAP) in the cytoplasm and cell processes. GFAP ×250, (c) The tumour cells show marked proliferative activity Ki-67 ×100

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Neurofibromatosis type one is the most common neurocutaneous disease with a prevalence of approximately one in 3000-4000 individuals.[1] Diagnostic features of this fully penetrant, autosomal dominant disease include caféau lait spots, skin fold freckles, Lisch nodules, cutaneous, subcutaneous, and plexiform neurofibromas, optic gliomas, and bony lesions.

The cardinal feature of NF1 is the development of multiple neurofibromas, with a 10% lifetime risk of progressing to malignant peripheral nerve sheath tumors. Neurofibromatosis type one patients have an increased risk of developing central nervous system (CNS) malignancies.[2] The most common of these are hypothalamic-optic gliomas, followed by brainstem and cerebellar pilocytic astrocytomas. The astrocytomas observed in 15-20% of these patients and generally have a benign nature.[3]

There are a few previously published reports NF1 with GBM. Distelmaier et al.[4] reported a 9-year-old girl with NF1 who rapidly evolving GBM. Broekman et al.[3] also presented a 28-year-old woman with NF1 associated GBM. Miaux et al.[5] reported a patient with NF1, who was followed up because of an optic glioma and one enhancing lesion presumed to be a pilocytic astrocytoma. Three years later, GBM developed at the site of that preceding lesion. However, in our patient, there was no preceding the hyperintense lesion in the cerebral MRI.

Glioblastoma multiforme usually affects the cerebral hemispheres in older patients, while cerebellar glioblastoma multiforme is a rare tumour especially in younger patients. GBM are sporadic and infrequently encountered in patients with NF1.[4] Several predisposing factors have been suggested: Optic pathway glioma, hyperintense lesions on a T2-weighed MRI, and hereditary factors.[6] However, it is still impossible to predict the development and localization of brain tumors in patients with NF1. Optic pathway glioma was in the left eye, and GBM developed on the same side in our patient.

In summary, our case exemplifies that NF1 is still a lifethreatening disease despite its generally benign course in most patients. The children with NF1 may be at risk for GBM, apart from, doctors should be alert for early clinical signs or symptoms that may be related to progressive brain tumors.

 » References Top

Friedman JM. Epidemiology of neurofibromatosis type 1. Am J Med Genet 1999;89:1-6.  Back to cited text no. 1
Korf BR. Malignancy in neurofibromatosis type 1. Oncologist 2000;5:477-85.  Back to cited text no. 2
Broekman ML, Risselada R, Engelen-Lee J, Spliet WG, Verweij BH. Glioblastoma multiforme in the posterior cranial fossa in a patient with neurofibromatosis type I. Case Report Med 2009;2009:1-4.  Back to cited text no. 3
Distelmaier F, Fahsold R, Reifenberger G, Messing-Juenger M, Schaper J, Schneider DT, et al. Fatal glioblastoma multiforme in a patient with neurofibromatosis type I: The dilemma of systematic medical follow-up. Childs Nerv Syst 2007;23:343-7.  Back to cited text no. 4
Miaux Y, Guermazi A, Cornu P, Mokhtari K, Singer B, Chiras J, et al. High-intensity lesion on T1-weighted MR images in neurofibromatosis type 1: A case of premalignant lesion. Acta Neurochir (Wien) 1997;139:1085-7.  Back to cited text no. 5
Faravelli F, Upadhyaya M, Osborn M, Huson SM, Hayward R, Winter R. Unusual clustering of brain tumours in a family with NF1 and variable expression of cutaneous features. J Med Genet 1999;36:893-6.  Back to cited text no. 6


  [Figure 1], [Figure 2]


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