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Year : 2015  |  Volume : 6  |  Issue : 3  |  Page : 225-226  

Malignant peripheral nerve sheath tumour in a patient with a plexiform neurofibromatosis

Department of Surgery, Kasturba Medical College, Manipal University, Manipal, Karnataka, India

Date of Web Publication6-May-2015

Correspondence Address:
Dr. Raghunath Prabhu
Department of Surgery, Kasturba Medical College, Manipal University, Manipal - 576 104
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2229-5178.156431

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How to cite this article:
Nekkanti R, Prabhu R, Kudva A, Sadhu S. Malignant peripheral nerve sheath tumour in a patient with a plexiform neurofibromatosis. Indian Dermatol Online J 2015;6:225-6

How to cite this URL:
Nekkanti R, Prabhu R, Kudva A, Sadhu S. Malignant peripheral nerve sheath tumour in a patient with a plexiform neurofibromatosis. Indian Dermatol Online J [serial online] 2015 [cited 2020 May 27];6:225-6. Available from: http://www.idoj.in/text.asp?2015/6/3/225/156431


Malignant Peripheral Nerve Sheath Tumors (MPNST) occur most often among patients with plexiform neurofibroma (NF)-1 and should be suspected in patients who complain of a sudden increase in size or pain following a latent period of 10 years or more.

We present a case of a 21-year-old man with a history of gradually increasing swelling in the lower back for the past 14 years. In the last 2 years, he noticed a rapid increase in size of the swelling and was associated pain. In addition, multiple café au lait macules along with several discrete cutaneous NFs were present over the chest and anterior abdominal wall. A tender, nearly spherical, nonreducible mobile swelling with diffuse borders measuring 15 cm × 13 cm was seen in the midline over the lower back [Figure 1]. Slit lamp examination of the eye revealed iris hamartomas (lisch nodules), favoring a diagnosis of NF 1. Magnetic resonance imaging (MRI) of the back showed a lesion that was iso-intense on T1-weighted and hyper-intense on T2-weighted imaging with intra-lesional areas of hemorrhage; findings consistent with the diagnosis of a PNST. There was no history of neurological deficits, paraesthesias or visual disturbances. Chest X-ray and ultrasound of the abdomen did not reveal any metastasis.
Figure 1: Non reducible swelling on the lower back measuring 15 cm x 13 cm that was tender on palpation

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Patient underwent wide local excision of the tumor. Histopathology revealed a biphasic tumor with hyper-cellular [Figure 2] and hypo-cellular [Figure 3] areas composed of fascicles of spindle-shaped cells. Focal areas of nuclear buckling and entrapped nerves were seen. Periphery of the tumor showed an NF. Findings were suggestive of an MPNST arising in a background of NF. Vimentin was positive in the tumor cells [Figure 4]. S 100 was focally positive in the MPNST and diffusely positive in the NF [Figure 5]. He received adjuvant external beam radiotherapy 50 Gray for six weeks. The patient is symptom free and is on regular three monthly follow-up.
Figure 2: Histopathology showing malignant tumor cells with mild nuclear atypia, hyperchromatic nuclei and abnormal mitosis

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Figure 3: Histopathology showing spindle cells in short fascicles and interlacing bundles, with elongated bland nucleus and tapering ends, interspersed by few blood vessels

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Figure 4: Immunohistochemistry with Vimentin is showing diffuse positivity in spindle cells x 400

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Figure 5: Immunohistochemistry with S 100 is showing focal positivity in MPNST component and diffuse positivity in Neurofibroma component x 200

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The incidence of MPNSTs in the general population is only 0.001%, [1] with no gender [1] or race predilection. MPNSTs are estimated to occur in 2-5% of patients with NF-1, and half the cases of MPNST occur in the background of NF-1. [2] Individuals with NF 1 with a plexiform type of NFs are at 18 times higher risk of developing MPNST than those patients who do not have internal plexiform NFs. [3] Malignant transformation of a preexisting NF should be suspected whenever a patient with NF-1 gives history of rapid change in size of tumor or pain, or onset of neurologic deficit. [4] Predisposing factors include tumor size, grade and location at the time of presentation. Mutation in the tumor suppressor gene p53 is associated with an increased chance of malignancy. MRI provides preoperative information about the site and extent of the tumor and rules out distant spread. Intra-tumoral lobulation and the presence of a high signal-intensity area on T1-weighted are considered to be diagnostic indicators of MPNST. The high specificity of flurodeoxyglucose positron emission tomography makes it a better diagnostic modality. [5] To establish malignant changes in a NF, a multiple quadrant open biopsy of the tumor is advocated [6] particularly when an excision biopsy is not possible. Once a diagnosis of MPNST is recognized, the mainstay of treatment is wide excision with oncological clearance to the extent possible. Radiotherapy is currently recommended postoperatively by the oncology consensus group. Local recurrence as high as 32-65% has been reported following wide local excision with tumor free margins after a median interval of 5-32.2 months. [6] Role of chemotherapy with doxorubicin, ifosfamide and etopside is under trial. Recent advances with targeted therapies like histone dieacetylase inhibitors have shown promising results. [7]

   References Top

Cashen DV, Parisien RC, Raskin K, Hornicek FJ, Gebhardt MC, Mankin HJ. Survival data for patients with malignant schwannoma. Clin Orthop Relat Res 2004;426:69-73.  Back to cited text no. 1
Ferner RE, Gutmann DH. International consensus statement on malignant peripheral nerve sheath tumors in neurofibromatosis. Cancer Res 2002;62:1573-7.  Back to cited text no. 2
Gupta G, Mammis A, Maniker A. Malignant peripheral nerve sheath tumors. Neurosurg Clin N Am 2008;19:533-43, v.  Back to cited text no. 3
Valeyrie-Allanore L, Ismaïli N, Bastuji-Garin S, Zeller J, Wechsler J, Revuz J, et al. Symptoms associated with malignancy of peripheral nerve sheath tumours: A retrospective study of 69 patients with neurofibromatosis 1. Br J Dermatol 2005;153:79-82.  Back to cited text no. 4
Ferner RE, Golding JF, Smith M, Calonje E, Jan W, Sanjayanathan V, et al. 18F 2-fluoro-2-deoxy-D-glucose positron emission tomography (FDG PET) as a diagnostic tool for neurofibromatosis 1 (NF1) associated malignant peripheral nerve sheath tumours (MPNSTs): A long-term clinical study. Ann Oncol 2008;19:390-4.  Back to cited text no. 5
Bhattacharyya AK, Perrin R, Guha A. Peripheral nerve tumors: Management strategies and molecular insights. J Neurooncol 2004;69:335-49.  Back to cited text no. 6
Lopez G, Torres K, Liu J, Hernandez B, Young E, Belousov R, et al. Autophagic survival in resistance to histone deacetylase inhibitors: Novel strategies to treat malignant peripheral nerve sheath tumors. Cancer Res 2011;71:185-96.  Back to cited text no. 7


  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]


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