Unexpected Pathogenic RET p.V804M Variant Leads to the Clinical Diagnosis and Management of Medullary Thyroid Carcinoma
| Autor: | Aviva Cohn, Donna Rachel Vatnick, Caroline Block, Justine A. Barletta, Ellen Marqusee, Judy Garber, Arezou A. Ghazani, Katelyn M. Breen, Meaghan Dwan, Samantha Stokes, Gerard M. Doherty, Huma Q. Rana |
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| Rok vydání: | 2020 |
| Předmět: |
Adult
Oncology medicine.medical_specialty endocrine system diseases medicine.medical_treatment Multiple Endocrine Neoplasia Type 2a 030204 cardiovascular system & hematology Thyroid carcinoma 03 medical and health sciences 0302 clinical medicine Breast cancer Internal medicine medicine Humans Thyroid Neoplasms Family history Child business.industry Proto-Oncogene Proteins c-ret Thyroid Thyroidectomy Cancer Articles General Medicine Middle Aged medicine.disease Penetrance Carcinoma Neuroendocrine Pedigree medicine.anatomical_structure Calcitonin Child Preschool 030220 oncology & carcinogenesis Female business |
| Zdroj: | The American Journal of Case Reports |
| ISSN: | 1941-5923 |
| DOI: | 10.12659/ajcr.927415 |
| Popis: | Patient: Female, 62-year-old Final Diagnosis: Medullary thyroid microcarcinoma Symptoms: No pain or swelling in her neck • no dysphagia or odynophagia • no changes in voice Medication: — Clinical Procedure: Genetic analysis Specialty: Genetics Objective: Unusual clinical course Background: RET p.V804M is a known activating oncogenic variant that confers an increased risk for medullary thyroid carcinoma (MTC). Based on age-specific penetrance, the American Thyroid Association (ATA) categorizes this variant as posing moderate risk. Therefore, ATA guidelines endorse prophylactic thyroidectomy for carriers in childhood (by age 5–10 years) or adulthood, or when the serum calcitonin level becomes elevated. The recommendation for thyroidectomy is increasingly controversial due to the recently reported low penetrance of the RET p.V804M variant in a large unbiased ascertainment cohort. Case Report: We describe the unexpected identification of this variant in a 62-year-old woman undergoing broad, multigene cancer panel testing for her personal and family history of breast cancer. There was no known family history of MTC. Biochemical screening prompted by the RET p.V804M result revealed a mildly elevated serum calcitonin. Pathology examination of her thyroidectomy specimen revealed multifocal medullary thyroid microcarcinoma; her sibling’s prophylactic thyroidectomy after a RET p.V840M-positive result similarly revealed early-stage MTC. Conclusions: This report demonstrates the value of genetic counseling, shared decision-making, cascade testing, and timely thyroidectomy in the management of a patient with an unexpected RET p.V804M result. |
| Databáze: | OpenAIRE |
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