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Article

Case report for an adolescent with germline RET mutation and alveolar rhabdomyosarcoma.

Cold Spring Harbor molecular case studies - 1 Jun 2020

Crawford Kenneth A, Berlow Noah E, Tsay Jennifer, Lazich Michael, Mancini Maria, Noakes Christopher, Huang Tannie, Keller Charles

Abstract excerpt

In this case report we evaluate the genetics of and scientific basis of therapeutic options for a 14-yr-old male patient diagnosed with metastatic PAX3-FOXO1 fusion positive alveolar rhabdomyosarcoma. A distinguishing genetic feature of this patient was a germline RET C634F mutation, which is a known driver of multiple endocrine neoplasia type 2A (MEN2A) cancer. Through sequential DNA and RNA sequencing analyses...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 32532875
DOI: 10.1101/mcs.a004853
PMCID: PMC7304354

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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