|LETTER TO THE EDITOR
|Year : 2015 | Volume
| Issue : 3 | Page : 318-319
Malignant peripheral nerve sheath tumorin neurofibromatosis type I: Unusual presentation as mesenteric mass
S Venkatachala1, S Rajeshkumar2, S Premkumar2, R Puroshothaman2
1 Department of Pathology, PSG Institute of Medical Sciences and Research, Peelamedu, Coimbatore, Tamilnadu, India
2 Department of Surgery, PSG Institute of Medical Sciences and Research, Peelamedu, Coimbatore, Tamilnadu, India
|Date of Web Publication||18-Feb-2016|
Department of Pathology, PSG Institute of Medical Sciences and Research, Peelamedu, Coimbatore, Tamilnadu
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Venkatachala S, Rajeshkumar S, Premkumar S, Puroshothaman R. Malignant peripheral nerve sheath tumorin neurofibromatosis type I: Unusual presentation as mesenteric mass. Indian J Cancer 2015;52:318-9
|How to cite this URL:|
Venkatachala S, Rajeshkumar S, Premkumar S, Puroshothaman R. Malignant peripheral nerve sheath tumorin neurofibromatosis type I: Unusual presentation as mesenteric mass. Indian J Cancer [serial online] 2015 [cited 2019 Jun 16];52:318-9. Available from: http://www.indianjcancer.com/text.asp?2015/52/3/318/176710
Gastrointestinal involvement in neurofibromatosis is seen in 10-25% of cases. Neurofibromas, carcinocid tumors, ganglioneuromas, GIST and neuronal hyperplasia are the most commonly encountered GI neoplasms. Life time risk of developing Malignant peripheral nerve sheath tumor (MPNST) in patients with Neurofibromatosis -1 (NF-1) is estimated to be about 2-5%, the extremities, head and neck being the most common sites. MPNST presenting as a mesenteric mass is an extremely rare entity with only five cases reported till date.
We report a 29-year-male, a known case of Von- Recklinghausens disease who presented with pain, swelling in the hypogastrium. An abdominopelvic CT scan revealed a circumscribed solid heterogeneously enhancing soft tissue density in the Lt mesenteric bed in the lumbar region measuring 9.0 × 8.2 × 8.1 cm. A clinical impression of desmoid/neurogenic tumor was suggested.
At laparotomy, the mass was found at the jejunoileal junction in the mesentery adherent to the vessels. We received a segment of small intestine measuring 15 cm in length with an attached mesenteric mass measuring 10 × 8 × 6 cm [Figure 1]a. Cut surface of the mass was fleshy, tan white with myxoid and hemorrhagic areas. Microscopic examination revealed an infiltrative mesenteric mass with variable cellularity. The hypercellular areas showed plump spindle cells arranged in fascicles and in herringbone pattern with numerous mitotic figures (10-12 MF/10 HPF) [Figure 1]b. In foci, the spindle cells showed wavy, buckled nuclei-features of neural differentiation [Figure 1]c. Foci of necrosis and rhabdomyoblastic differentiation [Figure 1]d was seen. These features were suggestive of MPNST which was further confirmed by positivity of thetumor cells for S100 and GFAP [Figure 2]a, [Figure 2]b. The tumor cells were negative for muscle markers-desmin, smooth muscle actin and CD117 thus ruling out the possibility of leiomyosarcoma, GIST and fibrosarcoma.
|Figure 1: (a) Segment of bowel with a mesenteric mass. (b) Spindle cells and mitotic figure (H and E, ×400). (c) Wavy nuclei (H and E, ×400). (d) Rhabdomyoblastic differentiation (H and E, ×400)|
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The estimated incidence of MPNST in NF-1 patients ranges between 2 and 5% as compared to 0.0001% in the general population. As in our case, MPNST is diagnosed, when NF-1 patients are young (Mean, 26 years) and has a poorer prognosis than in patients without NF-1. Mesentery of the small bowel as seen in the present case is a rare site with only six cases reported in the literature. Of these two cases were not associated with NF. Another rare presentation as an intrathoracic mass has been described by Kim and others. Former criteria for a diagnosis of MPNST included (i) Origin from a nerve or pre-existing benign nerve sheath tumor (ii) Ultrastructural evidence of Schwann cell differentiation (iii) development of a spindle cell sarcoma in a patient with neurofibromatosis-1. But according to the current WHO criteria, morphologic features supported by Immunohistochemistry is sufficient for a diagnosis. On microscopic examination, varying cellularity of the neoplasm and the presence of wavy, buckled nucleipointed to a neural origin. Two variants of MPNST have higher association with type 1 Neurofibromatosis: Glandular and rhabdomyosarcomatous differentiation (Triton tumor). The latter was present in the current case. MPNST exhibit S100and GFAP (second line marker) positivity as was seen in our case.
Surgical resection is the first line of therapy ideally with the total removal of tumor. Postoperative irradiation and chemotherapy are used both as adjuvant therapy and also owing to the high risk of recurrence with incomplete resection. It remains uncertain whether chemotherapy and radiotherapy have a positive impact on the survival of the patient as even with a combination of all these modalities of treatment, local recurrence is seen in 50% of patients and hematogeneous spread occurs most commonly to the lungs. The reported five year survival rate for patients with MPNST without NF-1 is 35-50% and drops to 10% for those with NF-1.
Our report is unique in that a frequent tumor MPNST in NF-1 has manifested at a rare site.
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[Figure 1], [Figure 2]