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Article

Misdiagnosis of Li-Fraumeni Syndrome in a Patient With Clonal Hematopoiesis and a Somatic TP53 Mutation.

Journal of the National Comprehensive Cancer Network : JNCCN - 1 May 2018

Mitchell Rachel L, Kosche Cory, Burgess Kelly, Wadhwa Shreya, Buckingham Lela, Ghai Ritu, Rotmensch Jacob, Klapko Oleksandra, Usha Lydia

Abstract excerpt

Li-Fraumeni syndrome (LFS) is a rare genetic disorder that confers a high risk of developing certain malignancies at a young age. It is caused by germline mutations in the TP53 gene and is typically diagnosed by sequencing this gene in blood cells. The presence of a mutation in approximately half of the DNA reads (allelic fraction of 50%) is an indicator of a germline mutation, such as that in LFS. Clonal...

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PMID: 29752319
DOI: 10.6004/jnccn.2017.7058

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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