TY - JOUR
T1 - DICER1-Related Tumor Predisposition
T2 - Identification of At-risk Individuals and Recommended Surveillance Strategies
AU - Schultz, Kris Ann P.
AU - Nelson, Alexander T.
AU - Mallinger, Paige H.R.
AU - Harris, Anne K.
AU - Kamihara, Junne
AU - Baldinger, Shari
AU - Chen, Kenneth S.
AU - Pond, Dinel
AU - Hatton, Jessica N.
AU - Dybvik, Anna G.
AU - Mitchell, Sarah G.
AU - Perrino, Melissa R.
AU - Ben-Ami, Tal
AU - Kachanov, Denis
AU - Su, Yan
AU - Duan, Chao
AU - Olson, Damon R.
AU - Watson, Dave
AU - Field, Amanda L.
AU - Harney, Laura A.
AU - Carr, Ann Garrity
AU - Frazier, A. Lindsay
AU - Schneider, Dominik T.
AU - Wilson, David B.
AU - MacFarland, Suzanne P.
AU - Schoettler, Peter J.
AU - Bauer, Andrew J.
AU - Dehner, Louis P.
AU - Hill, Dana Ashley
AU - Stewart, Douglas R.
AU - Messinger, Yoav H.
N1 - Publisher Copyright:
©2024 American Association for Cancer Research.
PY - 2024/12/15
Y1 - 2024/12/15
N2 - Purpose: 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 goals of the Registry is to continue to refine these guidelines as additional data become available. Experimental Design: Individuals were enrolled in the International PPB/DICER1 Registry, the International Ovarian and Testicular Stromal Tumor Registry, and/or the NCI 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 at a median age of 14 years (range: 11 months–66 years); 13% were diagnosed before 8 years of age, the current age of onset of pelvic surveillance. Additionally, 4% of Sertoli–Leydig cell tumors were diagnosed before 4 years of age. Conclusions: Ongoing data collection highlights the role of lung surveillance in the early detection of PPB and suggests that imaging-based detection and early resection may decrease the risk of advanced PPB. DICER1-related ovarian tumors were detected before 8 years of age, 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.
AB - Purpose: 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 goals of the Registry is to continue to refine these guidelines as additional data become available. Experimental Design: Individuals were enrolled in the International PPB/DICER1 Registry, the International Ovarian and Testicular Stromal Tumor Registry, and/or the NCI 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 at a median age of 14 years (range: 11 months–66 years); 13% were diagnosed before 8 years of age, the current age of onset of pelvic surveillance. Additionally, 4% of Sertoli–Leydig cell tumors were diagnosed before 4 years of age. Conclusions: Ongoing data collection highlights the role of lung surveillance in the early detection of PPB and suggests that imaging-based detection and early resection may decrease the risk of advanced PPB. DICER1-related ovarian tumors were detected before 8 years of age, 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.
UR - http://www.scopus.com/inward/record.url?scp=85212991842&partnerID=8YFLogxK
U2 - 10.1158/1078-0432.CCR-24-1532
DO - 10.1158/1078-0432.CCR-24-1532
M3 - Article
C2 - 39400264
AN - SCOPUS:85212991842
SN - 1078-0432
VL - 30
SP - 5681
EP - 5692
JO - Clinical Cancer Research
JF - Clinical Cancer Research
IS - 24
ER -