Table 2.

Individuals diagnosed with CPS before the screening tool was introduced (2012–2016)

No.	Cancer	Sex	A@D	Reason for evaluation	Genetic cause	CPS
1b	ALL	F	7.7	Physical features	Trisomy 21	DS
2b	AML	M	1.0	Physical features	Trisomy 21	DS
3b	AML	M	3.1	Physical features	Trisomy 21	DS
4b	AML	F	3.1	Physical features	Trisomy 21	DS
5b	AML	M	3.8	Physical features	Trisomy 21	DS
6	AML	F	11.7	Physical features	FANCA, c.45G > A p. (Trp15*), and c.67delG p. (Asp23Ilefs*23), compound heterozygous	FA
7	CRC	M	14.3	Physical features, pathology	POLE, c.1231G > C p. (Val411Leu)	POLE deficiency [12]
8b	OPG	F	4.6	Physical features	Work up pending	NF1a
9b	OPG	F	6.9	Physical features	Work up pending	NF1a
10b	OPG	M	12.9	Physical features	Work up pending	NF1a
11	OPG	F	1.4	Physical features	Work up pending	NF1a
12b	OPG	F	6.7	Physical features	Work up pending	NF1a
13b	MPNST	F	6.6	Physical features	Work up pending	NF1a
14b	HD	M	11.7	Immunodeficiency	PIK3CD, c.1689 + 9G > A and c.3061G > A p. (Glu1021Lys), compound heterozygous	Activated PIK3CD syndrome
15	MDS	F	13.3	Pathology	FANCA, c.1814_1815delAG p. (Glu605Valfs*7)	FA
16	NBL	F	0.11	Pathology	ALK, c.3824G > A p. (Arg1275Gln)	NBL predisposition
17b	RMS	F	2.2	Family history	TP53, c.309C > G p. (Tyr103*)	LFS
18	TT	F	12.2	Pathology	DICER1, c.2920dupA p. (Thr974Asnfs*6)	DICER1 syndrome
19b	TMPD	M	0.0	Physical features	Trisomy 21	DS
20b	TMPD	M	0.0	Physical features	Trisomy 21	DS
21b	TMPD	M	0.2	Physical features	Trisomy 21	DS
22b	TMPD	M	0.2	Physical features	Trisomy 21	DS
23b	RB	F	1.10	Physical features	arr [GRCh37] 13q14.13q21.33 (45943304_68903406) × 1	13q deletion syndrome
24	cMX	M	15.1	Pathology	arr [GRCh37] 17q24.2 (66501525_66512418) × 1	Carney Complex [13]

A@D age in years at cancer diagnosis, ALL acute lymphoblastic leukemia, CALS café-au-lait spots, CRC colorectal carcinoma, DS Down syndrome, FA Fanconi anemia, HD Hodgkin disease, LFS Li Fraumeni syndrome, MDS myelodysplastic syndrome, MPNST malignant peripheral nerve sheet tumor, cMX cardial myxoma, NBL neuroblastoma, NF1 neurofibromatois type 1, OPG optic pathway glioma, RB retinoblastoma, RMS rhabdomyosarcoma, TT thyroid tumor, TMPD transient myeloproliferative disease

^aClinically confirmed CPS diagnosis

^bCPS diagnosis was known prior to the oncologic diagnosis or presentation to Hannover Medical School