Pediatric imaging in DICER1 syndrome.
Pediatr Radiol
; 47(10): 1292-1301, 2017 Sep.
Article
in En
| MEDLINE
| ID: mdl-28474256
ABSTRACT
BACKGROUND:
DICER1 syndrome, arising from a mutation in the DICER1 gene mapped to chromosome 14q32, is associated with an increased risk of a range of benign and malignant neoplasms.OBJECTIVE:
To determine the spectrum of abnormalities and imaging characteristics in patients with DICER1 syndrome at a tertiary pediatric hospital. MATERIALS ANDMETHODS:
This retrospective analysis evaluated imaging in patients ≤18 years with DICER1 germline variants between January 2004 and July 2016. An imaging database search including keywords pleuropulmonary blastoma, cystic nephroma, pineoblastoma, embryonal rhabdomyosarcoma, ovarian sex cord-stromal tumor, ovarian Sertoli-Leydig cell tumor and DICER1 syndrome, was cross-referenced against the institutional Cancer Genetics Program database, excluding patients with negative/unknown DICER1 gene testing.RESULTS:
Sixteen patients were included (12 females; mean age at presentation 4.2 years, range 14 days to 17 years), with surveillance imaging encompassing the following modalities chest X-ray and CT; abdominal, pelvic and neck US; and brain and whole-body MRI. Malignant lesions (68.8% of patients) included pleuropulmonary blastoma (5), pineoblastoma (3), ovarian Sertoli-Leydig cell tumor (1), embryonal rhabdomyosarcoma (1) and renal sarcoma (1); benign lesions (37.5% of patients) included thyroid cysts (2), thyroid nodules (2), cystic nephroma (2), renal cysts (1) and pineal cyst (1). A common lesional appearance observed across modalities and organs was defined as the "cracked windshield" sign.CONCLUSION:
The spectrum of DICER1-related tumors and the young age at presentation suggest early surveillance of at-risk patients is critical, while minimizing exposure to ionizing radiation.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Ribonuclease III
/
DEAD-box RNA Helicases
/
Neoplasms
Type of study:
Diagnostic_studies
/
Observational_studies
/
Risk_factors_studies
Limits:
Adolescent
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Newborn
Language:
En
Journal:
Pediatr Radiol
Year:
2017
Document type:
Article
Affiliation country: