Identification of a secondary RET mutation in a pediatric patient with relapsed acute myeloid leukemia leads to the diagnosis and treatment of asymptomatic metastatic medullary thyroid cancer in a parent: A case for sequencing the germline Journal Article
| Authors: | Pendrick, D. M.; Oberg, J. A.; Hsiao, S. J.; Chung, W. K.; Koval, C.; Sireci, A.; Kuo, J. H.; Satwani, P.; Glasser, C. L.; Sulis, M. L.; Mansukhani, M. M.; Glade Bender, J. L. |
| Article Title: | Identification of a secondary RET mutation in a pediatric patient with relapsed acute myeloid leukemia leads to the diagnosis and treatment of asymptomatic metastatic medullary thyroid cancer in a parent: A case for sequencing the germline |
| 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 RET 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 RET mutations in families with hereditary MTC allows for genetic risk stratification and disease surveillance to reduce morbidity and mortality. © 2019 Pendrick et al.; Published by Cold Spring Harbor Laboratory Press. |
| Keywords: | acute myeloid leukemia; medullary thyroid carcinoma |
| Journal Title: | Cold Spring Harbor Molecular Case Studies |
| Volume: | 5 |
| Issue: | 2 |
| ISSN: | 2373-2873 |
| Publisher: | Cold Spring Harbor Laboratory Press |
| Date Published: | 2019-04-01 |
| Start Page: | a003889 |
| Language: | English |
| DOI: | 10.1101/mcs.a003889 |
| PUBMED: | 30936199 |
| PROVIDER: | scopus |
| PMCID: | PMC6549565 |
| DOI/URL: | |
| Notes: | Article -- Export Date: 1 May 2019 -- Source: Scopus |
