Abstract
BackgroundMedullary thyroid carcinoma accounts for approximately 1 to 2 % of all thyroid carcinoma cases. The most common route of dissemination is to locoregional lymph nodes. Distant metastases commonly affect bones, lungs, and liver. We present a case of a white woman with a 25-year history of medullary thyroid carcinoma on multiple medications including tyrosine kinase inhibitor therapy for the last 11 months, who exhibited unusual diffuse infiltration of advanced stage medullary thyroid carcinoma to her gastric mucosa.Case presentationA 53-year-old white woman presented with increasing fatigue, loss of appetite, and severe epigastric pain radiating to her back. She had a history of medullary thyroid carcinoma (pT2pN1b), diagnosed 25 years ago and treated by complete thyroidectomy and repeated bilateral cervical lymph node dissection. Medical therapy included octreotide 20 mg every 4 weeks, which was switched to the tyrosine kinase inhibitor vandetanib 300 mg/day 11 months ago when computed tomography scanning revealed progressive mediastinal lymph node and diffuse and symptomatic pulmonary metastases. Of note, she demonstrated macroscopically stable pulmonary and mediastinal lymph node metastases; however, her calcitonin serum levels dramatically increased. Computed tomography scanning revealed a single new intrahepatic lesion (4 mm) as well as multiple (>10) new supraclavicular lesions suggestive of medullary thyroid carcinoma progress. As proven by gastric biopsy and immunohistochemical evaluation, her epigastric pain was explained by a diffuse infiltration of her gastric mucosa by metastatic medullary thyroid carcinoma. Subsequently, she rapidly deteriorated and died.ConclusionsThe current case report shows for the first time an unusual metastatic infiltration of the gastric mucosa by medullary thyroid carcinoma. When treating these patients, it is important to include this differential diagnosis during follow-up.Electronic supplementary materialThe online version of this article (doi:10.1186/s13256-016-0981-9) contains supplementary material, which is available to authorized users.
Highlights
Medullary thyroid carcinoma accounts for approximately 1 to 2 % of all thyroid carcinoma cases
The current case report shows for the first time an unusual metastatic infiltration of the gastric mucosa by medullary thyroid carcinoma
Repeated biochemical and clinical evaluations during the course of the disease did not demonstrate any signs of paraneoplastic adrenocorticotropic hormone (ACTH) and/or corticotropin-releasing hormone (CRH) secretion
Summary
MTC is sporadic in origin in 60 to 75 % of all patients with MTC, while the others exhibit germline mutations in the RET proto-oncogene, namely patients with multiple endocrine neoplasia type 2A (MEN2A), multiple endocrine neoplasia type 2B (MEN2B), and familial MTC syndrome (FMTC). The most common sites for metastatic disease in MTC are locoregional lymph nodes; these metastases often occur early in the disease process [8] This was the case in our patient, who initially presented with a pT2pN1b tumor stage, and who received repeated resection of cervical lymph node metastases during the following years. The current case report should raise awareness of unusual gastrointestinal metastatic disease of MTC in advanced disease states, especially with the increasing prognosis of these tumors due to molecular-targeted oncologic therapies (for example tyrosine kinase inhibitors). In treating these patients, it is important to include this generally uncommon differential diagnosis for unspecific patient complaints during follow-up. Abbreviations ACTH, adrenocorticotropic hormone; AJCC, American Joint Committee on Cancer; CEA, carcinoembryonic antigen; CRH, corticotropin-releasing hormone; CT, computed tomography; FMTC, familial medullary thyroid carcinoma syndrome; MEN2, multiple endocrine neoplasia type 2; MEN2A, multiple endocrine neoplasia type 2A; MEN2B, multiple endocrine neoplasia type 2B; MTC, medullary thyroid carcinoma
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