PMID: 37187114

Primary thyroid rhabdomyosarcoma in an adult: A challenging case with histomolecular diagnosis and literature review.

International journal of surgery case reports
Alsugair, Ziyad Z, Calcagno, Fabien F, Lifante, Jean-Christophe JC, Descotes, Francoise F, Meurgey, Alexandra A, Decaussin-Petrucci, Myriam M

3 variants were identified in this publication

Variant ID Gene cDNA Protein Consequence Exon Intron
17-29665751-CACTT-C NF1 c.6852_6855delTTAC p.Y2285Tfs*5 Frameshift 46/58 -
10-89720709-C-G PTEN c.860C>G p.S287* Nonsense 8/9 -
7-140453136-A-T BRAF c.1799T>A p.V600E Missense 15/18 -