[MIM 601 200]

(familial susceptibility to the pleuroplumonary blastoma syndrome)

This syndrome predisposes to the development of benign or malignant tumors as a result of mutations of the DICER1 gene (14q32.13), coding for DICER endoribonuclease of the ribonucleases III  family.

DICER endoribonuclease  is one of the factors controlling the synthesis of the microRNA. The latter bind to mRNA strands to stop their reading by the ribosomes and the expression of the concerned gene. Mutations produce either a loss of function of tumor suppressor genes or a gain of function of oncogenic genes.

The mutations are transmitted on a dominant autosomal mode but results in a tumoral syndrome only if there is a different mutation on each allele of the gene (e g, a transmitted mutation and a de novo somatic mutation) ('two-hit' theory).

Tumors associated with a mutation of the gene DICER1 are:

-         pleuropulmonary blastomas

-        cystic nephroma (intrarenal tumor poorly or not vascularized and composed of fluid cysts) that could later become an anaplastic sarcoma of the kidney

-        multinodular goiter with or without cancer

-        ovarian Sertoli-Leydig cells tumors

-        pinealoblastoma

-        GLOW syndrome (in case of somatic mutation somatic only) (see this term)

-        some rhabdomyosarcomas

-        some neuroblastomas

Anesthetic Implications:

according to the tumor and the treatment.

References :

-        Faure A, Atkinson J, Bouty A, O’Brien M, Levard G, Hutson J, Heloury Y.
DICER1 pleuropulmonary blastoma familial tumour predisposition syndrome: what the paediatric urologist needs to know.
J Pediatr Urol 2016; 12: 5-10.

-        Robertson JC, Jorcyk CL, Oxford  JT.
DICER1 syndrome: DICER1 mutations in rare cancers.
Cancers 2018; 10: 143; doi: 10.3390/cancers10050143

Updated: April 2019