THU094 Multiple Endocrine Neoplasia Type 1 Tumor Recurrence After Loss To Follow Up
Authors: Sternlieb Sarah Jayne , Romo Karina G , Boothe Robert S , Englert Daniel , Trivedi Darshan , Manuel Nicholas , Iqbal Qasim Zafar 
Published: October 2023

Disclosure: S.J. Sternlieb: None. K.G. Romo: None. R.S. Boothe: None. D. Englert: None. N. Manuel: None. Q.Z. Iqbal: None.

Multiple Endocrine Neoplasia Type 1 Tumor Recurrence After Loss to Follow-up Sternlieb, S. J., Romo, K.G., Boothe, R., Manuel, N., Iqbal, Q.Z., Grissett, B., Englert, D. Background: MEN1 is a rare, autosomal dominant tumor disorder due to mutations in the MEN1 tumor suppressor gene. It is characterized by parathyroid, enteropancreatic and pituitary tumors. We present a young woman with MEN1 with prolactinoma, primary hyperparathyroidism and multiple pancreatic neuroendocrine tumors. Clinical Case: A 30-year-old woman with MEN1 presented with complaints of abdominal pain and GI bleeding (GIB). She was diagnosed with a prolactinoma at age 14 after presenting for primary amenorrhea and galactorrhea. She didn’t tolerate medical therapy with bromocriptine or cabergoline and required transphenoidal resection. At age 19, she presented with hypoglycemia and was found to have multiple pancreatic neuroendocrine tumors (NET) as well as a left (L) adrenal gland tumor. She underwent distal pancreatectomy and L adrenalectomy. Ten tumors in the pancreas stained variably for insulin, glucagon, gastrin and VIP. Multiple cortical adenomas were found in the adrenal gland. Post-operatively she developed a spinal cord hematoma related to placement of an epidural catheter for pain control, which led to permanent paraplegia. At age 21, she was diagnosed with primary hyperparathyroidism. She underwent left parathyroidectomy, then was lost to follow-up for 9 years. EGD showed multiple superficial duodenal ulcers. MRI brain identified a right (R) cavernous sinus mass inseparable from the R pituitary. CT abdomen showed a pancreatic head mass. Given the concern for neuroendocrine etiology, she underwent an EUS showing a pancreatic mass and a liver mass. Pancreatic mass pathology confirmed low-grade NET with Ki67 proliferation rate &lt;1%, positive synaptophysin and chromogranin staining. After multidisciplinary discussion, the consensus was to continue PPI and sucralfate for GI ulcers, start lanreotide, and obtain somatostatin receptor scintigraphy. Surgery was not recommended unless significant GIB occurred on maximal therapy. She was referred to follow-up with GI, endocrinology, and NSGY. Since discharge, she has presented several times to other hospitals for abdominal pain, but has not adhered to follow-up. Conclusions: This case of recurrent neuroendocrine and pituitary tumors despite prior resections demonstrates the consequences of prolonged loss to follow-up with MEN1. Without routine surveillance, recurrence is likely. This patient lives in a rural area with lack of access to nearby subspecialty care, which is a barrier. More resources are needed to support patients with social barriers and progressive endocrinopathies. Key words: MEN1, prolactinoma, gastrinoma, NET, health care barriers

Presentation: Thursday, June 15, 2023