C as e R epo rt
AB S TR A CT
Malignant peripheral nerve sheath tumor
arising from plexiform neurofibroma
of the mesentery in a patient with
neurofibromatosis 1
An unusual case of a 34‑year‑old woman with a malignant peripheral nerve sheath
tumor (MPNST) associated with neurofibromatosis type 1 (NF1), arising from
plexiform neurofibroma of the mesentery is presented here. She presented with
complaints of abdominal pain of 10 days duration. Imaging revealed the presence
of multiple nodules along with a large mass in the mesentery of the small bowel.
Small bowel resection along with the mesenteric mass was done and histopathologic
examination showed MPNST arising from a plexiform neurofibroma of the mesentery.
A review of the literature showed that till date only three cases of MPNST arising
from neurofibroma of the mesentery in NF1 patients have been reported out of which
one was from a plexiform neurofibroma.
Key words: Malignant peripheral nerve sheath tumor, mesentery, neurofibromatosis
1, plexiform neurofibroma
INTRODUCTION
Karuna Kumar,
Ganthimathy Sekhar,
Chitra Srinivasan,
Jayaganesh Parthasarathy
Department of Pathology,
Saveetha Medical College and
Hospital, Chennai, Tamil Nadu,
India
Address for the Correspondence:
Dr. Karuna Kumar,
Department of Pathology,
Saveetha Medical College and
Hospital, Saveetha Nagar,
Thandalam, Chennai ‑ 602 105,
Tamil Nadu, India.
E‑mail: [email protected]
Access this article online
Website: www.oghr.org
DOI: 10.4103/2348-3113.139656
Quick response code:
Malignant peripheral nerve sheath tumor (MPNST) is an aggressive and uncommon neoplasm that
develops within a peripheral nerve, most of which are associated with neurofibromatosis type 1 (NF1).[1]
The paraspinal region of the abdomen, extremities, and head and neck region are the most common
locations for MPNST in NF 1 patients.[2] MPNST arising from the mesentery is very unusual and
only three cases have been reported till date associated with NF1.
CASE REPORT
A 34‑year‑old woman presented with dragging abdominal pain of 10 days duration. The patient had
clinical stigmata of NF1. Patient’s mother had numerous neurofibromas all over her body [Figure 1].
Genetic analysis had not been performed.
The patient was admitted and evaluated for her complaints. Her hemogram, renal, liver and bleeding
parameters were normal. Computed tomography scan of abdomen showed a lobulated mixed density
lesion in the mid and lower mesentery. Bilateral renal calculi were also found. The patient was posted
for surgery and small bowel resection with anastomosis and appendectomy were done.
Histopathological examination showed a 40‑cm long segment of small intestine with attached
mesentery. The mesentery showed multiple nodular masses with the largest measuring 9 × 8 × 6 cm,
1 cm away from the bowel wall [Figure 2a]. The cut surface of the large mass showed a variegated
appearance with solid grey white, myxoid and hemorrhagic areas [Figure 2b]. The smaller nodules were
clustered together and the cut surface showed a whitish glistening appearance. The mucosal surface
of the small intestine was normal with no nodules or ulceration. Resected margins of the intestine
were free of tumor infiltration.
Sections from the largest nodule showed a spindle cell neoplasm with dense cellular and hypocellular
areas with areas of myxoid change, necrosis and hemorrhage [Figure 3]. The tumor cells were
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Kumar, et al.: Mesenteric malignant peripheral nerve sheath tumour associated with neurofibromatosis 1
arranged in cellular interlacing fascicles and had wavy buckled
nuclei which in some areas were plump and spindle shaped.
There was a proliferation of tumor cells around thin walled blood
vessels. Mitotic figures were increased (4‑5/hpf). Sections from the
smaller nodules showed the features of a plexiform neurofibroma.
Based on these features, a differential diagnosis of gastrointestinal
stromal tumor/MPNST arising from a plexiform neurofibroma
was made. Immunohistochemistry showed focal positivity for
S‑100, and negativity for smooth muscle actin, CD117 and DOG1.
Ki 67 index was high (30%) [Figure 4]. The postoperative period
was uneventful and the patient was discharged and is now under
follow up.
DISCUSSION
Neurofibromatosis 1 is one of the most common genetic disorders
affecting about 1 in 3000 population. Common abdominal neoplasms
in NF1 patients are localized and plexiform neurofibromas which
occur in the para spinal and sacral region. The majority of abdominal
neurofibromas are asymptomatic. The neurofibromas which involve
abdominal viscera and the mesentery in NF1 patients are of the
plexiform type. Mesenteric neurofibromas usually present as multiple
nodules involving the mesentery.[2]
and may be as high as 30% in those with symptomatic plexiform
neurofibromas.[1]
Most MPNSTs arise in relation to major nerve trunks, like the
sciatic nerve, brachial plexus and sacral plexus with the most
common sites of occurrence being the proximal portions of the
upper and lower extremities and the trunk.[1] In the setting of NF1,
MPNST originates from a peripheral nerve sheath or plexiform
neurofibroma.[3] MPNST arising in an extremity most commonly
manifests as a painful mass. In contrast, those tumors that arise
in the abdomen and retroperitoneum are often clinically silent.[4]
MPNST arising from the mesentery is very rare with only six cases
having been reported in the literature.[5‑10] Of these, three cases
were associated with NF1 as mentioned in Table 1.[5,6,8,9,11] Among
the cases arising in the setting of NF1 only one study mentions
association with plexiform neurofibroma.[5]
Clinically, MPNSTs are high‑grade sarcomas with a high rate
of recurrence (38% to 45%) and distant metastasis (40% to
80%) with an overall 5‑year survival rate of around 57%.[1,11] In
MPNSTs associated with NF1, the 5 year survival rate is 36%.[1]
MPNSTs in NF1 patients occur at a younger age and have a
poorer prognosis when compared with MPNSTs in patients
without NF1.[2]
MPNSTs are rare soft‑tissue tumors accounting for 5‑10% of all
soft tissue tumors, and up to 50% of these tumors are found in
patients with NF1.[1] The extremities are the most common sites
of involvement by these tumors.[1] In these patients the cumulative
life‑time risk of developing MPNSTS is considered to be about 10%
a
b
Figure 2: (a) Segment of small intestine with attached mesentery
showing a large nodule with adjacent smaller nodules. Cut surface of
smaller nodule is whitish and glistening (yellow arrow). (b) Variegated
appearance of larger nodule
a
b
Figure 1: Clinical manifestations of neurofibromatosis 1 in the
patient (a) and her mother (b)
a
b
Figure 3: (a) Scanner view of the malignant tumor with an adjacent
neurofibroma (H and E x40). (b) Spindle cells with high mitotic count
(H and E x400)
59
a
b
c
d
e
f
Figure 4: CD117 (a), DOG1 (b) and smooth muscle actin (c) showing
negativity. Ki-67 (d) and S-100 (e) showing focal positivity. S100
positivity (f)
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Kumar, et al.: Mesenteric malignant peripheral nerve sheath tumour associated with neurofibromatosis 1
Table 1: Comparing clinicopathologic characteristics, treatment and outcome of previously reported
cases of MPNST in association with NF1 along with the present case[5,6,11]
Age/ Presentation
sex
23/M Pain abdomen
56/M
31/F
34/F
Associated Location of
with NF1
tumor
Yes
Mesentery
Pain abdomen and Yes
left leg numbness
Painful abdominal Yes
mass
Pain abdomen
Yes
Histo
Treatment
pathology
MPNST with Excision
plexiform
neurofibroma
Mesentery and MPNST
Excision followed by radiation
retroperitoneum
and chemotherapy
Mesentery
MPNST
Excision followed by
Chemotherapy and radiotherapy
Mesentery
MPNST with Excision
plexiform
neurofibroma
Outcome
Study
Not available
Nagao et al.[5]
Expired 3 yrs after Wu et al.[6]
diagnosis
Expired 21 months Kim et al.[11]
after diagnosis
Uneventful
Present study
On regular follow
up till date
MPNST: Malignant peripheral nerve sheath tumor, M: Male, F: Female
Other poor prognostic factors include size ≥5 cm, incomplete
resection and location in a nonextremity.[1] MPNST is the main
cause of death in NF1 and occurs in 8 to 13% of NF1 patients
during their life span.[11]
CONCLUSION
Malignant peripheral nerve sheath tumor (MPNST) is an aggressive
neoplasm and when associated with NF1, it has poor prognosis.
Paraspinal region of the abdomen, extremities and head and neck
region are the common sites in patients with NF1. Mesenteric
MPNST is very rare in occurrence. As MPNSTs of the mesentery
are clinically silent, patients may present at a late stage where the
outcome may be poor. So it is important to screen patients with
NF1 for abdominal MPNSTs as a routine protocol.
REFERENCES
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tumor of the mesentery. Indian J Cancer 2010;47:233‑4.
9. Bazzoni C, Ongari M, Crespi A, Alleva M, Sguazzini C, Lombardi C,
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10. Kim JG, Sung WJ, Kim DH, Kim YH, Sohn SK, Lee KB. Malignant
peripheral nerve sheath tumor in neurofibromatosis type I: Unusual
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2005;20:100‑4.
11. Miettinen MM. Diagnostic Soft Tissue Pathology. New York, NY: Churchill
Livingstone; 2003.p. 343‑78.
4.
How to cite this article: Kumar K, Sekhar G, Srinivasan C,
Parthasarathy J. Malignant peripheral nerve sheath tumor arising
from plexiform neurofibroma of the mesentery in a patient with
neurofibromatosis 1. Onc Gas Hep Rep 2015;4:58-60.
Source of Support: Nil, Conflict of Interest: None declared.
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