Table 1.

Patients with medulloblastoma and germline SUFU mutation reported in the literature

Author (date)	Selection Criteria	Sex, Age, mo at MB	Histological Subtype	SUFU Mutation	Inheritance	Clinical Characteristics and Other Malignancies	Family History
Taylor (2002) 1 patient	MB	Male, 48 mo	Desmoplastic	IVS8 + 1G>A intron 8	NA	Severe developmental delay, frontal bossing, prominent jaw, and hypertelorism	No NBCCS, no family history of cancer
Taylor (2002) and NG (2005), 2 patients	MB	NA	Desmoplastic	c.143insA exon 1	NA	No physical abnormality. Meningioma in the radiation field	No family history of cancer
	MB	NA	Desmoplastic	IVS1-1A>T exon 2	Adopted	No physical abnormality at the clinical examination	NA
Pastorino (2009) 1 patient	NBCCS	8 mo	MBEN	c.1022 + 1G>A intron 8	Inherited from father	Macrocrania, frontal bossing, palmar and plantar pits. No BCC	Father: Macrocrania, bilateral pits on the soles, falx cerebri calcification
Slade (2011) 2 patients	MB	22 mo	Desmoplastic	c.846insC exon 7	NA		No NBCCS
	MB	23 mo	Desmoplastic	c.1022 + 1G>A intron 8	NA		No NBCCS
Smith (2014), 3 patients	NBCCS	Male, 23 mo	Desmoplastic	c.544G>T	Inherited from mother	BCC, falx cerebri calcification, meningioma, and grade 1 astrocytoma	BCC, falx cerebri calcification. Pancreatic and prostatic cancer (47 and 76 y)
	NBCCS	Male, 18 mo	Desmoplastic	c.550C>T	Inherited from mother	BCC, falx cerebri calcification	BCC, falx cerebri calcification. Ovarian fibroma (34 y)
	NBCCS	Female, 24 mo	Desmoplastic	E5-12del	Inherited from mother	BCC, falx cerebri calcification, squamous cell carcinoma cyst, meningioma, and ovarian fibroma	Falx cerebri calcification, pits, skeletal anomaly. Ovarian fibroma (10 y)
Robinson (2015), 1 patient	MB	Male, 29 mo	Desmoplastic
Šoukalová (2016), 1 patient	MB	21 mo	Desmoplastic		Inherited from mother		Other brain tumors in the family

Abbreviation: NA: not available.