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  • Item C7. Clinical Features of Conditions Associated With Pathogenic RET Proto-Oncogene Variants

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    reny93
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    This document lists clinical features of conditions associated with pathogenic RET proto-oncogene variants. It describes three conditions: familial medullary thyroid carcinoma, which involves medullary thyroid carcinoma; multiple endocrine neoplasia type 2A, which involves medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism; and multiple endocrine neoplasia type 2B, which involves medullary thyroid carcinoma, pheochromocytoma, and additional features including tall thin body habitus, mucosal neuromas, and joint laxity.

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    This document lists clinical features of conditions associated with pathogenic RET proto-oncogene variants. It describes three conditions: familial medullary thyroid carcinoma, which involves medullary thyroid carcinoma; multiple endocrine neoplasia type 2A, which involves medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism; and multiple endocrine neoplasia type 2B, which involves medullary thyroid carcinoma, pheochromocytoma, and additional features including tall thin body habitus, mucosal neuromas, and joint laxity.

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    3 views1 page

    Item C7. Clinical Features of Conditions Associated With Pathogenic RET Proto-Oncogene Variants

    Uploaded by

    reny93
    This document lists clinical features of conditions associated with pathogenic RET proto-oncogene variants. It describes three conditions: familial medullary thyroid carcinoma, which involves medullary thyroid carcinoma; multiple endocrine neoplasia type 2A, which involves medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism; and multiple endocrine neoplasia type 2B, which involves medullary thyroid carcinoma, pheochromocytoma, and additional features including tall thin body habitus, mucosal neuromas, and joint laxity.

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    © All Rights Reserved
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    Item C7.

    Clinical Features of Conditions Associated with


    Pathogenic RET Proto-Oncogene Variants.
    Condition Features
    Familial medullary thyroid carcinoma Medullary thyroid carcinoma

    Multiple endocrine neoplasia type 2A Medullary thyroid carcinoma


    Pheochromocytoma
    Hyperparathyroidism

    Multiple endocrine neoplasia type 2B Medullary thyroid carcinoma


    Pheochromocytoma
    Tall, thin body habitus
    Mucosal neuromas
    Gastrointestinal ganglioneuromas
    Alacrima
    Joint laxity

    Courtesy of K Vogt

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