Small bowel gastrointestinal stromal tumor (GIST)

Case contributed by Matthew Tse
Diagnosis certain

Presentation

Orchiectomy 15 years ago for a stage 2a right testicular teratoma. Recent abdo pains.

Patient Data

Age: 35
Gender: Male

Pelvic mass measures 6 cm and is associated with the mesenteric vascular pedicle in the pelvis. It is closely associated with bowel loops, but not obviously arising from bowel, no obstruction.

The remaining abdominal viscera are unremarkable. No hydronephrosis.

There is no retroperitoneal lymphadenopathy.

The lungs are clear. There is no lymphadenopathy in the chest. No bone lesion.

Comment: Isolated pelvic mass. The location is unusual for a germ cell tumor recurrence, ultrasound guided biopsy is possible.

Case Discussion

The patient proceeded to ultrasound guided pelvic mass biopsy.

The histopathology showed histology and immunohistochemistry consistent with gastrointestinal stromal tumor. KIT exon 11 mutation was detected; cases with such a mutation typically respond to Imatinib therapy, as such the patient has been managed with Imatinib and subsequent scans have shown disease response.

This case highlights that possibility of new primary malignancy in patients with prior malignancy. Given the patient's age and history of two different malignancies they have been referred to clinical genetics, work up for assessing for an underlying genetic mutation is ongoing at the time of writing. At present, Carney complex is in the differential.

Case courtesy of Dr Simon Burbidge.

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