DICER1-Related Tumor Predisposition: Identification of At-risk Individuals and Recommended Surveillance Strategies.

Autor:	Schultz KAP; Children's Minnesota, Minneapolis, MN, United States., Nelson AT; Children's Minnesota, Minneapolis, MN, United States., Mallinger PHR; Children's Minnesota, Minneapolis, MN, United States., Harris AK; International Pleuropulmonary Blastoma Registry and Children's Hospitals and Clinics of Minnesota, Minneapolis, MN, United States., Kamihara J; Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston, MA, United States., Baldinger S; Allina Health, United States., Chen KS; The University of Texas Southwestern Medical Center, Dallas, TX, United States., Pond D; Children's Minnesota, Minneapolis, MN, United States., Hatton JN; National Cancer Institute, Bethesda, MD, United States., Dybvik A; Children's Minnesota, Minneapolis, MN, United States., Mitchell SG; Emory University, Atlanta, GA, United States., Perrino MR; St. Jude Children's Research Hospital, Memphis, TN, United States., Ben-Ami T; Hebrew University of Jerusalem, Israel., Kachanov D; Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Su Y; Beijing Children's Hospital, Beijing, China., Duan C; Beijing Children's Hospital, China., Olson DR; Children's Minnesota, Minneapolis, MN, United States., Watson D; Mayo Clinic, Rochester, MN, United States., Field AL; ResourcePath, United States., Harney LA; Westat (United States), Rockville, MD, United States., Garrity Carr A; Westat (United States), Olney, MD, United States., Frazier AL; Dana-Farber Cancer Institute, Boston, MA, United States., Schneider DT; Klinikum Dortmund, Dortmund, Germany., Wilson DB; St. Louis Children's Hospital, United States., MacFarland SP; Children's Hospital of Philadelphia, Philadephia, PA, United States., Schoettler PJ; Mayo Clinic, United States., Bauer AJ; Children's Hospital of Philadelphia, Philadelphia, PA, United States., Dehner LP; Barnes-Jewish and St. Louis Children's Hospitals; Washington University, St. Louis, MO, United States., Hill DA; Washington University Medical Center, St. Louis, MO, United States., Stewart DR; National Cancer Institute, Bethesda, MD, United States., Messinger YH; Children's Minnesota, Minneapolis, MN, United States.
Jazyk:	angličtina
Zdroj:	Clinical cancer research : an official journal of the American Association for Cancer Research [Clin Cancer Res] 2024 Oct 14. Date of Electronic Publication: 2024 Oct 14.
DOI:	10.1158/1078-0432.CCR-24-1532
Abstrakt:	Background: DICER1-related tumor predisposition increases risk for a spectrum of benign and malignant tumors. In 2018, the International Pleuropulmonary Blastoma (PPB)/DICER1 Registry published guidelines for testing and imaging-based surveillance of individuals with a known or suspected germline DICER1 pathogenic or likely pathogenic (P/LP) variant. One of the Registry's goals is to continue to refine these guidelines as additional data becomes available. Experimental Design: Individuals were enrolled in the International PPB/DICER1 Registry, the International Ovarian and Testicular Stromal Tumor Registry, and/or the National Cancer Institute Natural History of DICER1 Syndrome study. Results: Review of participant records identified 713 participants with a germline DICER1 P/LP variant from 38 countries. To date, 5 cases of type I and 29 cases of type Ir PPB have been diagnosed by surveillance in enrolled individuals. One hundred and three individuals with a germline P/LP variant developed a primary ovarian Sertoli-Leydig cell tumor (SLCT) at a median age of 14 years (range: 11 months-66 years); 13% were diagnosed under age 8 years, the current age of onset of pelvic surveillance. Additionally, 4% of SLCTs were diagnosed before the age of 4 years. Conclusion: Ongoing data collection highlights the role of lung surveillance in the detection of early PPB and suggests that imaging-based detection and early resection may decrease the risk of advanced PPB. DICER1-related ovarian tumors were detected before age 8 years, prompting the Registry to recommend earlier initiation of ovarian surveillance with pelvic ultrasound beginning at the time of detection of a germline DICER1 P/LP variant.
Databáze:	MEDLINE
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