A distal ileum malignant peripheral nerve sheath tumour after abdominal radiation therapy: case report of a rare tumour.

ABSTRACT

Malignant peripheral nerve sheath tumours (MPNSTs) are malignant tumours arising from a peripheral nerve or displaying nerve sheath differentiation. Most MPNSTs are found on the head, body trunk and extremities, whereas cases in the gastrointestinal are extremely rare. About half arise in neurofibromatosis type 1 patients and 10% arise post-irradiation. This is probably the first small bowel MPNST post-radiation therapy case reported. A 72-year-old female who received radiotherapy 30 years ago for cervical cancer was admitted with progressive abdominal pain and weight loss. Computed tomography revealed a mass with inhomogeneous enhancement in the lumen of the small intestine. Tumour excision was performed with ileocecal and sigmoid colon resection due to suspicion for peripheral tissue invasion. Histopathological examination revealed spindle-shaped cells with focal cartilage differentiation. Together with immunochemistry stain showing complete loss of H3K27me3, a final diagnosis of MPNST was made. The patient is presently under regular follow-ups, and has remained disease-free for 24 months.