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01-09-2017 | Original Article

Pediatric imaging in DICER1 syndrome

Authors: Marta Tijerin Bueno, Claudia Martínez-Ríos, Alejandro De la Puente Gregorio, Rayan A. Ahyad, Anita Villani, Harriet Druker, Kalene van Engelen, Bailey Gallinger, Laura Aronoff, Ronald Grant, David Malkin, Mary-Louise C. Greer

Published in: Pediatric Radiology | Issue 10/2017

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 and methods

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.

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Title: Pediatric imaging in DICER1 syndrome
Authors: Marta Tijerin Bueno
Claudia Martínez-Ríos
Alejandro De la Puente Gregorio
Rayan A. Ahyad
Anita Villani
Harriet Druker
Kalene van Engelen
Bailey Gallinger
Laura Aronoff
Ronald Grant
David Malkin
Mary-Louise C. Greer
Publication date: 01-09-2017
Publisher: Springer Berlin Heidelberg
Published in: Pediatric Radiology / Issue 10/2017
Print ISSN: 0301-0449
Electronic ISSN: 1432-1998
DOI: https://doi.org/10.1007/s00247-017-3875-0

ACC 2024 Congress

Springer Medicine

Pediatric imaging in DICER1 syndrome

Abstract

Background

Objective

Materials and methods

Results

Conclusion

ACC 2024 Congress

Springer Medicine

Abstract

Background

Objective

Materials and methods

Results

Conclusion

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