AI Article Synopsis
- The integration of tumor-normal genomic testing in cancer care helps detect both somatic mutations for treatment decisions and germline variants that may indicate cancer risk in families.
- A case study of a 3-year-old boy with relapsed leukemia revealed a specific genetic variant linked to multiple endocrine neoplasia 2A (MEN2A), which was also found in his father and three siblings.
- The father's subsequent evaluation resulted in a diagnosis of metastatic medullary thyroid carcinoma, underscoring the importance of genetic testing for early detection and management of hereditary cancer risks.
Article Abstract
The incorporation of tumor-normal genomic testing into oncology can identify somatic mutations that inform therapeutic measures but also germline variants associated with unsuspected cancer predisposition. We describe a case in which a variant was identified in a 3-yr-old male with relapsed leukemia. Sanger sequencing revealed the patient's father and three siblings carried the same variant, associated with multiple endocrine neoplasia 2A (MEN2A). Evaluation of the father led to the diagnosis and treatment of metastatic medullary thyroid carcinoma. Detection of mutations in families with hereditary MTC allows for genetic risk stratification and disease surveillance to reduce morbidity and mortality.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6549565 | PMC |
| http://dx.doi.org/10.1101/mcs.a003889 | DOI Listing |
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