Table I.

Costello Syndrome Cohort

Patient ID	Gender	Germline Mutation and Additional Molecular Findings	Mutation Origin	Age ERMS Diagnosed (Years)	Location	Tumor Histology	Source of Tumor Sample	Timing of Sample Procurement	Notes
CS 170a	F	HRAS p.Gly12Ser	Paternal	2.75	Pelvic	ERMS	FFPE	N/A	Alive and well
CS 181a	M	HRAS p.Gly12Ser FISH analysis revealed 15–19% of cells are XXY; 10–16% of cells have gains in chromosome 13 (3–5 copies) and chromosome 21 (3 copies)	Paternal	16	Pelvic involving bladder, prostate	ERMS with botryoid features	Fresh Tissue	Post-treatment	Deceased
CS 187a	M	HRAS p.Gly12Ser	Paternal	1.5	Bladder	ERMS	Fresh Tissue	T1-Pre/Post treatment T2-Post-treatment of primary tumor	Pulmonary/Thoracic metastatic ERMS at 2.9; deceased
CS 214a	M	HRAS p.Gly12Ser	Paternal	1.5	Abdominal Paratesticular	Mixed ERMS and ARMS ERMS	FFPE	T1-Pre & Post-treatment T2-at diagnosis, pre-treatment	Paratesticular second primary ERMS at age 13; Alive and well
CS 242a,b	F	HRAS p.Gly12Ala	Paternal	1.7	Abdominal/pelvic	ERMS	Fresh Tissue Cell line	Pre-treatment	Deceased
CS 283a,b	M	HRAS p.Gly12Ala	Paternal	2	Sphenoid	ERMS, spindle cell variant	FFPE	T1-Pre treatment T2-diagnosis of recurrence	Nasopharyngeal ERMS recurrence at age 4; Alive and well
CS 457	M	HRAS p.Gly12Ser	Paternal	1.3	Seminal Vesicle	ERMS	Fresh Tissue	Pre-treatment	Completed treatment, alive and well
CS 393	F	HRAS p.Gly12Ser	Paternal	3	Retroperitoneal	ERMS	Fresh Tissue	Pre-treatment	In treatment

Abbreviations are as follows: ID, identification; ERMS, embryonal rhabdomyosarcoma; F, female; M, male; FISH, fluorescence in situ hybridization; FFPE, formalin fixed paraffin embedded; N/A, not available; ARMS alveolar rhabdomyosarcoma.

^{a and b} additional clinical findings reported can be found respectively in references Gripp et al., 2010; Detweiler et al., 2013.