|Year : 2018 | Volume
| Issue : 3 | Page : 301-303
Isolated giant ileal neurofibroma sans neurofibromatosis
Reetu Kundu1, Sanjay Gupta2, Robin Kaushik2, Rajpal Singh Punia1, Ravinder Kaur3
1 Department of Pathology, Government Medical College and Hospital, Chandigarh, India
2 Department of General Surgery, Government Medical College and Hospital, Chandigarh, India
3 Department of Radiodiagnosis, Government Medical College and Hospital, Chandigarh, India
|Date of Web Publication||28-Jan-2019|
Dr. Reetu Kundu
Department of Pathology, Government Medical College and Hospital, Chandigarh
Source of Support: None, Conflict of Interest: None
Neurofibromas are benign neoplasms that are usually seen in hereditary disorders such as von Recklinghausen's disease [neurofibromatosis type 1 (NF1)]. The occurrence of isolated ileal neurofibroma in patients without the classic manifestations of NF1 or multiple endocrine neoplasia (MEN) syndromes is an extremely rare entity . We report one such case of isolated ileal neurofibroma in a 60 year old woman without any other stigmata of NF. It may be the initial manifestation of NF1 or MEN 2b or malignant transformation, all of which necessitate further follow-up of these patients.
Keywords: Isolated, neurofibroma, small intestine
|How to cite this article:|
Kundu R, Gupta S, Kaushik R, Punia RS, Kaur R. Isolated giant ileal neurofibroma sans neurofibromatosis. Indian J Cancer 2018;55:301-3
| » Introduction|| |
Small bowel tumors are rare, accounting for 1%–2% of all gastrointestinal (GI) neoplasms despite the fact that the small bowel constitutes approximately 75% of GI length and 90% of GI mucosal surface. Malignant tumors are far commoner than benign tumors in the jejunoileum; neurofibroma of the small bowel is an even rarer entity.
Neurofibromas are benign neoplasms that are usually seen in hereditary disorders such as von Recklinghausen's disease [neurofibromatosis type 1 (NF1)]. The occurrence of bowel neurofibroma outside of NF1 is rare, as is isolated involvement of the bowel. We report one such case of isolated ileal neurofibroma in an adult woman without any other stigmata of NF.
| » Case Report|| |
A 60-year-old woman presented to the surgery emergency with acute intermittent pain in the right lower quadrant of the abdomen, recurrent non-bilious vomiting, and lump in the lower abdomen since 3 days. On examination, the abdomen was mildly distended, with a large, firm, non-mobile lump in the right iliac and suprapubic region. Her routine hematological and biochemical parameters were normal and she was managed initially conservatively as a patient of appendicular lump. Ultrasound examination showed an 8.9 × 10.9 cm well-defined hyperechoic heterogeneous mass with internal vascularity in the right iliac fossa. Following this, a contrast-enhanced computerized tomogram scan was done, and it revealed an enhancing soft tissue exophytic mass lesion measuring 12.8 × 11 × 10 cm in the right iliac fossa that seemed to be arising from the terminal ileum [Figure 1]a and [Figure 1]b. A diagnosis of ileal gastrointestinal stromal tumor (GIST) was made and the patient was taken up for surgery.
|Figure 1: (a and b) Contrast-enhanced computed tomography scan of the abdomen shows an enhancing soft tissue exophytic mass lesion in the right iliac fossa arising from the terminal ileum; (c) huge solid mass arising from the terminal ileum; (d) cut section is glistening white to tan with myxoid areas|
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Intraoperatively, a huge mass was seen arising from ileum with infiltration into mesentery, cecum, and ascending colon. On mobilizing the right colon, the mass was densely adherent to the mid part of the right ureter and second and third parts of the duodenum. Carefully, the mass was mobilized, with en masse resection of the involved ureter and a wedge of the involved portion of the duodenum. Once lifted up, a right hemicolectomy was performed. The wedge of duodenum was closed primarily and the right ureter was mobilized and an end-to-end anastomosis was performed after which an ileo-ascending anastomosis was completed. The patient had an uneventful postoperative course. She was discharged and advised to follow-up the in outpatient department.
The resection specimen comprised segment of ileum, cecum with appendix, and part of ascending colon along with small portion of duodenum and a tiny segment of ureter. A large mass arising from the terminal ileum measuring 15 × 8.0 × 7.5 cm was seen [Figure 1]c. Cut section of the mass showed a well-circumscribed firm solid white to tan tumor, with focal myxoid areas [Figure 1]d. Multiple sections from the huge mass showed an unencapsulated ileal tumor composed of interlacing fascicles of spindle cells with minimal pleomorphism, kinky nuclei, cytoplasmic extensions, and occasional mitosis was seen [Figure 2]. The stroma showed myxoid degeneration. On immunostaining, the cells were positive for S-100 (clone 15E2E2 and ready-to-use antibody) and negative for CD 117 (clone EP10 and ready-to-use antibody), leading to a final histopathologic diagnosis of ileal neurofibroma.
|Figure 2: Histopathologic section showing interlacing fascicles of spindle-shaped tumor cells with minimal pleomorphism and kinky nuclei (H and E, ×400). Inset shows tumor cells positive for S-100 immunostain (IHC, ×400)|
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Following this histopathology report, the patient was thoroughly screened, but no clinical signs of neurofibromatosis were found. As per the family history, the parents of the indexed case died in the eighth decade of life and had no manifestations of neurofibromatosis. Six siblings, three sisters and three brothers, of the patient are in good health and on screening had no features to suggest neurofibromatosis. Given this, a final diagnosis of isolated ileal neurofibroma was made. The patient remains well on at months after surgery and has not shown any other stigmata of neurofibromatosis.
| » Discussion|| |
Neurofibromatous lesions of the GI tract are usually seen in the fourth to sixth decade of life  and include intestinal neurofibromatosis, ganglioneuromatosis, diffuse plexiform neurofibromatosis, neuronal intestinal dysplasia, and diffuse colonic ganglioneuromatous polyposis. These lesions are seen in approximately 25% of cases of NF1 and multiple endocrine neoplasia type 2b (MEN 2b) and rarely occur outside of these clinical entities. Intestinal neurofibromas are the most common abdominal neoplasms in NF1 and are multiple upon presentation; they are usually located in the jejunum, stomach, ileum, duodenum, and colon (in a descending order of frequency).
Patients with NF1 have mutations of the NF1 gene on chromosome 17 and about 1289 mutations have been reported. It shows enormous clinical variability in expression both within the members of a family and in unrelated affected individuals. Two or more of the diagnostic criteria established by the National Institutes of Health should be present for making a diagnosis. These include six or more café au lait macules (>0.5 cm in children and >1.5 cm in adults), two or more cutaneous/subcutaneous neurofibromas/one plexiform neurofibroma, axillary/inguinal freckling, optic pathway glioma, two or more Lisch nodules, bony dysplasia, and one first-degree relative with NF1. NF2 is an autosomal dominant caused by inactivating mutations on chromosome 22 and is characterized by bilateral vestibular schwannomas. The affected persons may develop schwannomas on other cranial, spinal, peripheral and cutaneous nerves. NF2 again has a great variability in expressivity.
The occurrence of isolated ileal neurofibroma in patients without the classic manifestations of NF1 or MEN syndromes as seen in the current case is an extremely rare entity – only a few such cases have been previously documented in literature., Majority of these tumors are clinically occult. At times, they may present with nonspecific clinical features or with palpable abdominal mass, jaundice, intestinal obstruction, perforation, or GI bleed as is the norm for small bowel tumors., The clinical presentation depends on the focal or diffuse nature of the lesions, location, effect on GI motility, and impingement on adjacent structures, but in the absence of specific symptoms and signs they may remain undiagnosed and untreated for long periods.
Neurofibromas of the bowel arise from the Meissner (submucosal) plexus, Auerbach's plexus (muscularis), or from the serosa in descending order of frequency. These tumors are usually multiple, broad-based, and sessile but occasionally may be pedunculated or polypoidal. Grossly, they are solid, firm, non-capsulated, tumors with a homogeneous appearance; surface ulceration, hemorrhage and necrosis can occur in large tumors as a consequence of pressure necrosis as was seen in the current case. Microscopically, the tumor comprises neural, connective tissue, and myofibroblastic components intermingled diffusely or arranged in fascicles. Cells are bland and spindle-shaped having kinky nuclei. Stroma is characteristically loose and myxoid. The tumor may be strikingly cellular with occasional cellular pleomorphism; mitotic activity is minimal. Malignant transformation (2%–16% cases) or association with adenocarcinoma may exist, which mandates a careful scrutiny of these histomorphologic features. Histomorphologically, these tumors resemble GISTs and may pose diagnostic difficulty; positive immunohistochemistry for S100 (neurofibroma) and negative immunostaining for CD117 (GIST) is diagnostic for neurofibroma.
| » Conclusion|| |
Isolated ileal neurofibroma as a separate pathologic entity without the classic manifestations of NF1 or MEN syndromes is rarely encountered. It may perhaps be the initial manifestation of NF1 or MEN 2b or malignant transformation, all of which necessitate further follow-up of these patients.
All authors declare that written informed consent was obtained from the patient for publication of this case report and accompanying images.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that name and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
This work received no specific grant from any funding agency, commercial, or not-for-profit sectors.
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2]