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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.

SUBMITTER: Pendrick DM 

PROVIDER: S-EPMC6549565 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature

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Identification of a secondary <i>RET</i> 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.

Pendrick Danielle M DM   Oberg Jennifer A JA   Hsiao Susan J SJ   Chung Wendy K WK   Koval Carrie C   Sireci Anthony A   Kuo Jennifer H JH   Satwani Prakash P   Glasser Chana L CL   Sulis Maria Luisa ML   Mansukhani Mahesh M MM   Glade Bender Julia L JL  

Cold Spring Harbor molecular case studies 20190401 2


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 <i>RET</i> 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 d  ...[more]

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