27 December 2020
: Case report
Unexpected Pathogenic RET p.V804M Variant Leads to the Clinical Diagnosis and Management of Medullary Thyroid Carcinoma
Unusual clinical course
Arezou A. Ghazani123ABDEF, Katelyn M. Breen45BEF, Meaghan Dwan45BEF, Justine A. Barletta23BDE, Donna R. Vatnick45BE, Samantha M. Stokes45BEF, Caroline Block24BD, Gerard M. Doherty26BD, Aviva Y. Cohn7BD, Ellen Marqusee247BD, Judy E. Garber245DE, Huma Q. Rana245ABDEF*DOI: 10.12659/AJCR.927415
Am J Case Rep 2020; 21:e927415
Figure 1. Pedigree of a family with RET p.V804M variant. The pedigree depicts individuals with cancer, cancer types, and RET p.V804M genotype when available. Positive and negative signs denote presence and absence of RET p.V804M, respectively. Circles and squares denote female and male family members, respectively. Arrow indicates proband. Numbers under circles or squares reflect current age or age at death if deceased, and numbers beside diagnosis reflect age at diagnosis. Filled quadrants denote affected conditions. BR – breast cancer; CO – colon cancer; MTC – medullary thyroid cancer; CLL – chronic lymphoid leukemia.