Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature

Table 1

Characteristics of patients with Costello syndrome and rhabdomyosarcoma.

PT number	Author	Year	Country	Sex	Age at diagnosis (years/months)	Symptoms	Location	Histology	Mutation AAC (NS)	Therapy	Outcome
1	Kerr et al. [7, 8]	1998	England	F	2 y 4 m	Vomiting; Constipation	Retroperitoneal: left psoas mayor muscle	Embryonal	G12S (34G>A [9]	S, ChT	Relapse, tumor-free age of 7 years
2	Kerr et al. [7, 8]	1998	England	F	3 y 2 m	Abdominal mass	Pelvis: urachus (median UL), adherent to the bladder	Embryonal	G12A (35G>C) [5]	S, ChT	Histology showed extending up to the resection margin; Died aged 5 years [5, 9]
3	Feingold [8, 10]	1999	USA	M	6 m	Tumor	Right foot	Alveolar	NDF	S, ChT	Tumor-free age of 20 years [11]
4	Bisogno et al. [8, 9, 12]	1999	Italy	M	1 y 8 m	Constipation; Abdominal pain	Lower abdomen, pelvis: abdominal	Embryonal	NDF	S, ChT	Only biopsy; Died aged 2 years and 3 months
5	Sigaudy et al. [8, 13]	2000	France	M	6 y	NDF	Inguinal/scrotal	Embryonal	NDF	NDF	NDF
6	Gripp et al. [8, 14, 15]	2002	USA	M	5 y 6 m	Abdominal pain	Pelvis: pulmonary metastases was present	Embryonal	NDF	S, ChT	Died after recurrence [14]
7	Gripp et al. [8]	2002	USA	F	3 y 7 m	Abdominal pain; Emesis	Upper abdomen: mass encasing the superior mesenteric an celiac arteries. Single pulmonary nodule	Pleomorphic	NDF	ChT	Died aged 4 years
8	Gripp et al. [8]	2002	USA	F	2 y 6 m	Abdominal mass	Pelvis: bladder	Embryonal	NDF	ChT, RT, S	Died aged 7 years for recurrency of RMS/fibrosarcoma [16]
9	Gripp et al. [8]	2002	USA	NDF	7 m	Perineal growth	Perineal	Embryonal	NDF	ChT, RT, S	Tumor-free age of 2 years
10	Gripp et al. [8]	2002	USA	NDF	1 y 11 m	Proptosis	Left orbit	Unknown	NDF	S, RT	Tumor-free age of 4 years
11	Kawame et al. [17]	2003	Japan	F	1 y 4 m	Abdominal mass	Pelvis	Spindle cell	NDF	S, ChT	Tumor-free age of 7 years
12	Kerr et al. [18]	2003	UK	M	2 y 2 m	Large pelvic mass	Retrovesicular mass by ultrasound	Embryonal	NDF	ChT	Died aged 2 years and 4 months
13	O’Neal et al. [19]	2004	USA	F	3 y	Right-sided cervicofacial mass	Parameningeal infratemporal fossa: right periparotid masticator space region	Alveolar	NDF	ChT, S, RT	Clinical group 3 T2b N0 stage 3; Died during surgery
14	Gripp [20]	2005	USA	F	3 y 2 m	Facial mass	Right infratemporal fossa	Mixed alveolar and embryonal	NDF	ChT, S	Died during surgery by ventricular tachycardia followed rapidly by loss of heart rhythm
15	Aoki et al. [21, 22]	2005	Japan	F	7 y 2 m	NDF	NDF	NDF	G12S (34G>A)	NDF	NDF
16	Gripp et al. [9]	2006	USA	M	2 y	NDF	NDF	NDF	G12S (34G>A)	NDF	Tumor-free age of 11
17	Kerr et al. [5]	2006	UK	NDF	7 m	NDF	Metastatic arising from the prostate	Embryonal [23]	G12C (34G>T)	NDF	Died aged 7 months
18	Kerr et al. [5]	2006	UK	NDF	NDF	NDF	NDF	NDF	G12S (34G>A)	NDF	Died aged 7 years
19	Kerr et al. [5]	2006	UK	NDF	NDF	NDF	NDF	NDF	G12A (35G>C)	NDF	NDF
20	Lo et al. [23]	2008	UK	M	2 y 3 m	Respiratory function deteriorated	Right lung	NDF	G12S (34G>A)	S	Died few weeks later surgery
21	Ahmadi and Harley [6]	2010	USA	M	2 y	Increased work of breathing	Nasopharyngeal	Embryonal	NDF	S, ChT, RT	Clinical group IIA (T1N0M0); Tumor-free age of 3 years
22	Abe et al. [22]	2012	Japan	NDF	NDF	NDF	NDF	NDF	NDF	NDF	Died
23	Menke et al. [24, 25]	2015	Germany	F	3 y	Abdominal mass	Lower anterior abdomen, above the urinary (urachus-median UL by location)	Embryonal	G12C (34G>T)	S, ChT	R1 resection (marginal tumor residue). Tumor-free age of 6 years
24	Kratz et al. [25]	2015	Germany	M	1 y	NDF	NDF	Embryonal	G12S (34G>A)	NDF	NDF
25	Sánchez-Montenegro et al. (this report)	2017	Spain	F	2 y 4 m	Asymptomatic	Left medial UL	Embryonal	G12A (35G>C)	ChT, S, RT	Tumor-free age of 4 years and 4 months
26	Sánchez-Montenegro et al. (this report)	2017	Spain	F	3 y 10 m	Asymptomatic	Right medial UL	Spindle cell	G12S (34G>A)	S, ChT	Tumor-free age of 5 years and 4 months

AAC, amino acid change; ChT, chemotherapy; F, female; M, male; NDF, no data found; NS, nucleotide substitution; PT, patient; RT, radiotherapy; S, surgery; UL, umbilical ligament. Personal communication by author.