Marta Tijerin Bueno1,2, Claudia Martínez-Ríos1,2, Alejandro De la Puente Gregorio3, Rayan A Ahyad1,2, Anita Villani4,5,6, Harriet Druker5,7,8, Kalene van Engelen6, Bailey Gallinger6,7,8, Laura Aronoff5, Ronald Grant4,5, David Malkin4,5,6, Mary-Louise C Greer9,10. 1. Department of Diagnostic Imaging, The Hospital for Sick Children, 555 University Ave., Toronto, Ontario, M5G 1X8, Canada. 2. Department of Medical Imaging, University of Toronto, Toronto, Ontario, Canada. 3. Radiotherapy Department, Hospital Son Espases, Palma de Mallorca, Spain. 4. Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada. 5. Division of Hematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada. 6. Genetics & Genomic Biology Program, The Hospital for Sick Children, Toronto, Ontario, Canada. 7. Department of Genetic Counselling, The Hospital for Sick Children, Toronto, Ontario, Canada. 8. Department of Molecular Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada. 9. Department of Diagnostic Imaging, The Hospital for Sick Children, 555 University Ave., Toronto, Ontario, M5G 1X8, Canada. mary-louise.greer@sickkids.ca. 10. Department of Medical Imaging, University of Toronto, Toronto, Ontario, Canada. mary-louise.greer@sickkids.ca.
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.
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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