A gastrointestinal stromal tumor in a patient with multiple endocrine neoplasia type 2A and metastatic medullary thyroid cancer to the ovaries.
OBJECTIVE
To describe the first reported case of a patient with multiple endocrine neoplasia type 2A and a gastrointestinal stromal tumor, as well as the second reported case of metastatic medullary thyroid cancer to the ovary.


METHODS
We present the clinical, imaging, surgical, and pathologic findings of the study patient and review the relevant literature.


RESULTS
A 57-year-old woman with a clinical diagnosis of multiple endocrine neoplasia type 2A presented with a new mass in the right lower quadrant. Surgical exploration identified a 5-cm pedunculated small-bowel mass approximately 25 cm from the ileocecal junction, as well as bilaterally firm ovaries. Bilateral oophorectomy revealed medullary thyroid cancer in both ovaries and fallopian tubes. Pathology of the resected mass revealed a gastrointestinal stromal tumor of uncertain malignant potential, mitotic rate of 1/50 per high-power field, with positive staining for c-kit and smooth muscle actin and negative staining for CD34 and S-100.


CONCLUSIONS
This case is the first description of a gastrointestinal stromal tumor in a patient with multiple endocrine neoplasia type 2A, potentially representing a new paraganglioma/gastrointestinal stromal tumor syndrome. This case also highlights the possibility of the ovary as a metastatic site for medullary thyroid cancer.
Malek
Rana
R
Clinical Endocrinology Branch, National Institute of Diabetes and Digestive and Kidney Disease, NIH, Bethesda, MD 20892, USA. malekr@niddk.nih.gov
McCarthy-Keith
Desiree
D
Levens
Eric D
ED
Merino
Maria J
MJ
DeCherney
Alan H
AH
Weinstein
Lee S
LS
D018276:Carcinoma, Medullary / Q000473:pathology / Q000556:secondary*; D005260:Female; D046152:Gastrointestinal Stromal Tumors / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D008875:Middle Aged; D018813:Multiple Endocrine Neoplasia Type 2a / Q000175:diagnosis* / Q000473:pathology; D010051:Ovarian Neoplasms / Q000473:pathology / Q000556:secondary*; D013964:Thyroid Neoplasms / Q000473:pathology*