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. Author manuscript; available in PMC: 2016 Dec 1.
Published in final edited form as: Am J Med Genet A. 2016 Sep 2;170(12):3197–3206. doi: 10.1002/ajmg.a.37949

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.