Table 2.

Select Features of DICER1 Tumor Predisposition

Feature% of Persons w/DICER1 Germline Pathogenic Variant w/FeatureComment
Macrocephaly~42%
Pleuropulmonary
blastoma		Lung cysts / type Ir PPB in 25%-40%; PPB types I, II, & III in <10%65% of children w/PPB had a DICER1 germline pathogenic variant.
Multinodular goiter32% of women; 13% of menBy age 20 yrs
75% of women; 17% of menBy age 40 yrs
Ovarian sex cord-
stromal tumors		<10%~50% of persons w/SLCT & gynandroblastoma had a DICER1 germline pathogenic variant. 1
Cystic nephroma≤10%
Ciliary body
medulloepithelioma		~3%
Differentiated thyroid
carcinoma		Rare16- to 24-fold ↑ risk
Nasal
chondromesenchymal
hamartoma		Rare~1% of persons ascertained by family history (non-probands)
Other tumorsRareEmbryonal rhabdomyosarcoma, pituitary blastoma, pineoblastoma, CNS sarcomas, presacral malignant teratoid tumor, & other CNS embryonal tumors/ETMR-like
Multicystic hepatic
lesions		Very rare 2

CNS = central nervous system; ETMR = embryonal tumor with multilayer rosettes; PPB = pleuropulmonary blastoma; SLCT = Sertoli-Leydig cell tumor; type Ir PPB = regressed or nonprogressed PPB

1.
2.

Two instances of multicystic hepatic lesions reported [Apellaniz-Ruiz et al 2019]

From: DICER1 Tumor Predisposition

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