. 2007 Apr 27;60(11):1187–1194. doi: 10.1136/jcp.2006.040113

Table 2 Syndromes which predispose to paediatric sarcoma.

Cancer syndrome	Locus	Gene	Characteristic malignancy	Sarcoma type	Reference
Beckwith–Wiedemann syndrome	11p15.5	Unknown	Wilms' tumour, hepatoblastoma, adrenocortical carcinoma	Rhabdomyosarcoma	23

Bloom syndrome	15q26.1	RECQL3/BLM	All common malignancies with increased frequency		24

Costello syndrome	11p15.5	HRAS	Rhabdomyosarcoma, neuroblastoma, transitional cell carcinoma		21

Li–Fraumeni syndrome	17p13.1	TP53	Breast carcinoma, CNS tumours	Rhabdomyosarcoma	25, 26
Li–Fraumeni syndrome	17p13.1	TP53	Breast carcinoma, CNS tumours	Osteosarcoma	25, 26

Hereditary retinoblastoma	13q14	RB1	Retinoblastoma	Osteosarcoma	27
Hereditary retinoblastoma	13q14	RB1	Retinoblastoma	Rhabdomyosarcoma	27

Neurofibromatosis type 1	17q11.1	NF1	Glioma, neurofibroma	Rhabdomyosarcoma	28
Neurofibromatosis type 1	17q11.1	NF1	Glioma, neurofibroma	Malignant peripheral nerve sheet tumour	28

Noonan syndrome	12q14.13	PTPN11	Juvenile myelomonocytic leukaemia, neuroblastoma	Rhabdomyosarcoma	29

Gorlin syndrome	9q22	PTCH	Basal cell carcinoma, medulloblastoma	Rhabdomyosarcoma	30

Rapadilino and Rothmud–Thomson syndrome	8q24.3	RECQL4	Osteosarcoma		20

Werner syndrome	8p11.2	RECQL2/WERN	Osteosarcoma		20

Mosaic variegated aneuploidy	15q15	BUB1B	Wilms' tumour, leukaemia	Rhabdomyosarcoma	31, 32