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A Rare Case of Persistent Multifocal Cribriform-Morular Thyroid Carcinoma
William Kuenstner1, Po Zhao1, Wen Lee2
1MedStar Georgetown University Hospital, Washington, D.C.
AACE Clinical Case Reports
|March 25, 2024
Summary
Cribriform-morular thyroid carcinoma (CMTC) is a distinct entity associated with familial adenomatous polyposis (FAP). Early recognition and genetic testing are crucial for managing CMTC and FAP patients.
Area of Science:
- Endocrinology
- Oncology
- Genetics
Background:
- Cribriform-morular thyroid carcinoma (CMTC) is now recognized as a distinct entity, separate from papillary thyroid carcinoma (PTC), per the 2022 WHO classification.
- CMTC exhibits a known association with familial adenomatous polyposis (FAP), a hereditary condition predisposing to colorectal cancer.
Observation:
- A 15-year-old female presented with goiter, dysphagia, weight loss, and gastrointestinal bleeding, initially diagnosed with PTC.
- Thyroidectomy revealed multifocal CMTC, and subsequent genetic testing confirmed FAP.
- The patient also had a history of iron-deficiency anemia and alpha-gal syndrome.
Findings:
- Management strategies for CMTC differ based on FAP status; total thyroidectomy is recommended for FAP-associated cases.
- Adjuvant radioactive iodine therapy was administered due to persistent disease.
- The patient was referred for gastrointestinal evaluations, including colonoscopy and colectomy assessment.
Implications:
- Suspicion for CMTC should be raised in patients with thyroid carcinoma and a family history of colorectal carcinoma.
- Prompt referral for colonoscopy and genetic testing for FAP is essential for patients diagnosed with CMTC.
- This case highlights the importance of recognizing the association between CMTC and FAP for comprehensive patient management and screening.
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