DICER1 and associated conditions: Identification of at-risk individuals and recommended surveillance strategies. - PubMed - NCBI
Clin Cancer Res. 2018 Jan 17. pii: clincanres.3089.2017. doi: 10.1158/1078-0432.CCR-17-3089. [Epub ahead of print]
DICER1 and associated conditions: Identification of at-risk individuals and recommended surveillance strategies.
Schultz KAP1,
Williams GM2,
Kamihara J3,
Stewart DR4,
Harris AK5,
Bauer AJ6,
Turner J7,
Shah R8,
Schneider K9,
Schneider KW10,
Carr AG11,
Harney LA11,
Baldinger S12,
Frazier AL13,
Orbach D14,
Schneider DT15,
Malkin D16,
Dehner LP17,
Messinger YH18,
Hill A19.
Abstract
Pathogenic germline DICER1 variants cause a hereditary cancer predisposition syndrome with a variety of manifestations. In addition to conferring increased cancer risks for pleuropulmonary blastoma (PPB) and ovarian sex cord-stromal tumors, particularly Sertoli-Leydig cell tumor, individuals with pathogenic germline DICER1 variants may also develop lung cysts, cystic nephroma, renal sarcoma and Wilms tumor, nodular hyperplasia of the thyroid, nasal chondromesenchymal hamartoma, ciliary body medulloepithelioma, genitourinary embryonal rhabdomyosarcoma and brain tumors including pineoblastoma and pituitary blastoma. In May 2016, the International PPB Registry convened the inaugural International DICER1 Symposium to develop consensus testing, surveillance and treatment recommendations. Attendees from North America, Europe and Russia provided expert representation from the disciplines of pediatric oncology, endocrinology, genetics, genetic counseling, radiology, pediatric surgery, pathology and clinical research. Recommendations are provided for genetic testing, prenatal management, and surveillance for DICER1-associated pulmonary, renal, gynecologic, thyroid, ophthalmologic, otolaryngologic, central nervous system tumors and gastrointestinal polyps. Risk for most DICER1-associated neoplasms is highest in early childhood and decreases in adulthood. Individual and caregiver education and judicious imaging-based surveillance are the primary recommended approaches. These testing and surveillance recommendations reflect a consensus of expert opinion and current literature. As DICER1 research expands, guidelines for screening and treatment will continue to be updated.
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