Signs and genetics of rare cancer syndromes with gastroenterological features

Table 3 Major/minor features for the diagnosis of rare cancer syndromes with gastroenterological signs

Syndrome	Major features	Minor features
BWS	Macrosomia	Polyhydramnios
	Macroglossia	Prematurity
	Hemihyperplasia	Hypoglycemia
	Ear-skin lobe creases or pits	Advanced bone age
	Visceromegaly	Heart problems
	Embryonal tumor (incl Wilms)	Diastasis recti
	Adrenocortical tumor	Hemangioma
	Kidney abnormalities	Facial nevus flammeus
	Cleft palate	Characteristic facial features
	Family history of BWS	Identical twins
Carney complex	Spotty skin pigmentation	Significant freckling
	Myxoma	Multiple Blue nevi
	Heart myxoma	Café-au-lait spots
	Breast myxomatosis	High IGF-1 levels, abnormal glucose tolerance test and/or paradoxical GH response to TRH testing, hyperprolactinemia
	Breast ductal adenomas	Cardiomyopathy
	PPNAD or abnormal result of Liddle’s test	Pilonidal sinus
	Acromegaly	Family history of Cushing’s syndrome, acromegaly or sudden death
	LCCST	Multiple skin tags or lipomas
	Thyroid cancer	Colon polyps (usually with acromegaly)
	Psammomatous melanotic schwannoma	Thyroid nodules
	Blue nevi	Family history of thyroid, colon, pancreas, and ovary cancers
	Osteochondromyxoma
NBCCS (Gorlin syndrome)	Lamellar calcification of the falx	Lympho-mesenteric or pleural cysts
	Jaw keratocyst	Macrocephaly (OFC > 97th centile)
	Palmar/plantar pits (two or more)	Cleft lip/palate
	Multiple BCCs (> 5 in a lifetime) or a BCC before 30 yr	Vertebral/rib anomalies
	Childhood medulloblastoma	Preaxial/postaxial polydactyly
	Ameloblastoma[45]	Ovarian/cardiac fibromas
		Ocular anomalies
VHL	Hemangioblastomas or a single hemangioblastoma with a visceral manifestation	Endolymphatic sac tumors, papillary cystadenomas of the epididymis or broad ligament, pNETs
	Renal cell carcinoma
	Adrenal or extra-adrenal pheochromocytomas

BCC: Basal cell carcinoma; BWS: Beckwith-Wiedemann syndrome; LCCSCT: Large cell calcifying Sertoli cell tumor; NBCCS: Nevoid basal cell carcinoma syndrome; PNETS: Pancreatic neuroendocrine tumors; PPNAD: Primary pigmented nodular adrenocortical disease; VHL: von Hippel-Lindau.