A 35-year-old man is diagnosed with medullary carcinoma of the thyroid and under

Question

A 35-year-old man is diagnosed with medullary carcinoma of the thyroid and undergoes a successful resection. He has no family history of thyroid cancer, pheochromocytoma or other endocrine abnormalities. He is an only child; his father died at age 32 in an automobile accident, and his mother is in good health at age 67. Given the early age at which his cancer occurred, he is tested for mutations in the RET gene and found to have a mutation associated with Multiple Endocrine Neoplasia Type 2 (MEN2). He is counseled about autosomal dominant inheritance and the risk to future children. He asks whether a child already borm would be at risk, because he has a 10-year-old son, with whom he has not been in contact for many years. Based on the counseling he receives, he calls the mother of his child to let her know of their son's 50% risk to inherit the RET mutation and the recommendation that the child be tested. She tells him she doesn't ever want to hear from him again and hangs up. He notes that they parted under bad circumstances (he was drinking heavily) and asks his primary care provider to contact her to explain the need for follow-up for his son. The resident wants to know how to proceed. Questions for Discussion: 1. Is testing of the patient's son recommended? 2. If so, what role should the resident play in helping this patient get the information to the child's mother?

Explanation / Answer

1.Yes. testing the patient's son is needed as change in gene called RET may pass from the parent to child. Nearly everychild who have genetic inheritence may have a chance to develop medullary thyroid cancer. hence Lab test or surgery is needed to treat the person before cancer develops.

2. The resident could play as a counsellor to counsel the mother of the child regarding the importance of lab test regarding genetic inheritance.

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