Table 1. Clinical and Pathologic Features by Predisposing DICER1 Mutation Category.

	Germline LOF mutations	Mosaic mutations		Tumor- specific mutations
		Loss of function	RNase IIIb hotspot
Number of patients	90	5	7	12
Sex distribution
Male	44	3	4	10
Female	46	2	3	2
Age at first diagnosis, months a
Median (range)	35 (0–227)	25 (12–46)	12 (0–18)	33 (24–139)
Mean (standard deviation)	36 (31)	27 (12)	11 (6)	42 (31)
P-value, vs. germline group d	–	0.97	0.0161	0.99
Disease foci distribution
Lung - cysts, PPB	90	5	7	12
Kidney - cysts, cystic nephroma	12	0	6	0
Kidney - Wilms tumor	1	0	0	0
Thyroid - nodular hyperplasia	4	0	2	0
Thyroid - cancer	4	0	1	0
Nasal cavity - NCMH	5	0	2	0
Ovary - Sertoli-Leydig cell tumor	3	0	2	0
Uterine cervix - ERMS	4	0	0	0
Urinary bladder - ERMS	2	0	0	0
Pineoblastoma	1	0	1	0
Ciliary body medulloepithelioma	1	0	1	0
Small intestine - juvenile polyps	0	0	4	0
Small intestine - juvenile polyps	0	0	4	0
Pelvic sarcoma	0	0	1	0
PPB type distribution
Type Ir	9	0	5 c	0
Type I	25	2	1	1
Type II	31	1	2 c	6
Type III	25	2	0	5
Number of disease foci per patient b
Median (range)	2 (1–6)	2 (1–2)	13 (9–24)	1 (1–1)
Mean (standard deviation)	1.8 (1.0)	1.6 (0.5)	15 (6.4)	1 (0.0)
P-value, vs. germline group d	–	0.99	0.0001	0.0072
Survival, number of patients (months)
Alive (median age at present)	80 (100)	3 (46)	6 (87)	10 (85)
Deceased (median age at death)	10 (60.5)	2 (64.5)	1(132)	2 (57)

Abbreviations: PPB pleuropulmonary blastoma; NCMH nasal chondromesenchymal hamartoma; ERMS embryonal rhabdomyosarcoma.

a. Age at first clinical presentation with PPB or other DICER1 syndrome pathology.

b. Total number of discrete disease foci, as defined in Subjects and Methods.

c. Two patients with both type Ir and type II PPB.

d. Medians compared using a Kruskal-Wallis test; post-hoc pair-wise tests adjusted for multiple comparisons.