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Condition report · Cancer

DICER1 Syndrome

An inherited condition caused by variants in DICER1 that raises the risk of several rare tumours, mostly in childhood and young adulthood, as well as thyroid nodules.

A condition report looks for rare variants known to cause the conditions it covers.

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The condition we analyse

DICER1-related tumour predisposition

Autosomal dominant

DICER1 variants causing pleuropulmonary blastoma, multinodular goitre, thyroid cancer, ovarian Sertoli-Leydig cell tumours, cystic nephroma and other rare tumours.

What a diagnosis changes

Surveillance guidelines include chest imaging in early childhood, thyroid ultrasound and pelvic ultrasound.

Genes analysed

Also known as

DICER1 syndrome; DICER1-related pleuropulmonary blastoma; DICER1-related pleuropulmonary blastoma cancer predisposition syndrome; pleuro-pulmonary blastoma familial tumour susceptibility syndrome; pleuropulmonary blastoma familial tumour susceptibility syndrome; PPB familial tumour susceptibility syndrome; PPBFTDS

Includes 6 related subtypes ↓
  • fetal lung interstitial tumor
  • goiter, multinodular 1, with or without Sertoli-Leydig cell tumors
  • pleuropulmonary blastoma
  • pleuropulmonary blastoma type 1
  • pleuropulmonary blastoma type 2
  • pleuropulmonary blastoma type 3
MONDO:0100216Orphanet 284343MedGen 825667

Limitations

  • Some cases are mosaic, and a variant present in only a fraction of blood cells may be missed.

Other cancer conditions

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