A distal ileum malignant peripheral nerve sheath tumor causing intussusception in a patient in China: a case report

Abstract

Background: Malignant peripheral nerve sheath tumors (MPNSTs) arise from a peripheral nerve or display nerve sheath differentiation. Most MPNSTs typically originate on the trunk, extremities, head, neck, and paravertebral regions. Gastrointestinal MPNSTs are rare entities with only 10 cases reported worldwide in the literatures.

Case presentation: Here, we report the first Chinese case of a malignant peripheral nerve sheath tumor of the distal ileum presenting as intussusception. A 53-year-old female patient without pathological antecedent for neurofibromatosis was admitted with pain in the right lower abdomen and multiple episodes of vomiting for 1 week. Preoperative diagnosis was intussusception with a contrast-enhanced computed tomography scan (CECT) of the abdomen showing characteristic target sign. Due to difficulty reducing the ileum-colon intussusception, right hemicolectomy with ileocolostomy was performed. Histopathology was suggestive of low-grade MPNST. The patient received postoperative care and was followed up for 9 months. There is no sign of tumor recurrence and metastatic disease.

Conclusions: This case is unique in terms of a rare tumor presenting with unusual complication.

Keywords: Malignant peripheral nerve sheath tumor; Small bowel.

Fig. 1

Contrast-enhanced computed tomography scan of the abdomen showing intussusception in the ascending colon with a smooth enhancing 3.5 cm mass suspicious for neoplasm (white arrow)

Fig. 2

a Difficulty reduction of ileum-colon intussusceptions on emergent exploratory laparotomy. b A right hemicolectomy specimen. c A 4.0 × 3.5 × 2.3 cm submucosal tumor of distal ileum (white arrow)

Fig. 3

a The tumor showing bundles and fascicles of atypical spindle cells with hyperchromatic nuclei and indistinct cytoplasm (HE, ×200). b S-100 staining showing diffuse positive reaction. c IHC staining for Ki67-labeling index 15~20%