wdt_IDPhenotype and Relative Frequency NotationDoes this disease by itself suggests DICER1 Mutation Testing?Approximate Ages of Susceptibility, range (peak).Malignant or BenignDeaths recorded in cases with DICER1 syndrome
3 Most Frequent Phenotypes
4 pleuropulmonary blastoma PPB yes
5 Type I (cystic) PPB 0 - 24 m (8 m ) M y, if progresses to Type II or III
6 Type II (cystic/solid) PPB 12 - 60 m (31 m) M y, ~40%
7 Type III (solid) PPB 18 - 72 m (44 m) M y, ~60%
9 Type Ir (cystic) PPB any age B or M none observed
10 multinodular goiter MNG no 5 - 40 y (10 - 20 y) B n
11 cystic nephroma CN yes 0 - 48 m (undetermined) B n (see anaplastic sarcoma of kidney below)
12 Sertoli-Leydig cell tumor of ovary SLCT yes 2 - 45 y (10 - 25 y) M y, < 5% of cases
13 Moderate Frequency Phenotypes


Pleuropulmonary blastoma (PPB)
Cystic nephroma
Multinodular Goiter (MNG)
Ovarian sex cord-stromal tumor (OSCST)
Pituitary blastoma (PitB)
Pineoblastoma (PinB)
Embryonal Rhabdomyosarcomas (ERMS)
Ciliary body medulloepithelioma (CBME)
Nasal chondromesenchymal hamartoma (NCMH)
Anaplastic sarcoma of the kidney (ASK)
Other tumors