PTEN错构瘤肿瘤综合征、DICER1相关肿瘤易感性和结节性硬化症复合体的儿科监测建议更新
Update on Pediatric Surveillance Recommendations for PTEN Hamartoma Tumor Syndrome, DICER1-Related Tumor Predisposition, and Tuberous Sclerosis Complex.
作者信息
Schultz Kris Ann P, MacFarland Suzanne P, Perrino Melissa R, Mitchell Sarah G, Kamihara Junne, Nelson Alexander T, Mallinger Paige H R, Brzezinski Jack J, Maxwell Kara N, Woodward Emma R, Gallinger Bailey, Kim Sun Young, Greer Mary-Louise C, Schneider Kami Wolfe, Scollon Sarah R, Das Anirban, Wasserman Jonathan D, Eng Charis, Malkin David, Foulkes William D, Michaeli Orli, Bauer Andrew J, Stewart Douglas R
机构信息
International Pleuropulmonary Blastoma/DICER1 Registry, Cancer and Blood Disorders, Children's Minnesota, Minneapolis, Minnesota.
Division of Oncology, The Children's Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
出版信息
Clin Cancer Res. 2025 Jan 17;31(2):234-244. doi: 10.1158/1078-0432.CCR-24-1947.
Phosphate and tensin homolog hamartoma tumor syndrome, DICER1-related tumor predisposition, and tuberous sclerosis complex are rare conditions, which each increases risk for distinct spectra of benign and malignant neoplasms throughout childhood and adulthood. Surveillance considerations for each of these conditions focus on patient and family education, early detection, and multidisciplinary care. In this article, we present updated surveillance recommendations and considerations for children and adolescents with phosphate and tensin homolog hamartoma tumor syndrome, DICER1-related tumor predisposition, and tuberous sclerosis complex and provide suggestions for further research in each of these conditions.
磷酸酶与张力蛋白同源物错构瘤肿瘤综合征、DICER1相关肿瘤易感性以及结节性硬化症是罕见疾病，它们各自在儿童期和成年期会增加患不同类型良性和恶性肿瘤的风险。针对这些疾病中每一种的监测考量都集中在患者及家属教育、早期检测和多学科护理上。在本文中，我们针对患有磷酸酶与张力蛋白同源物错构瘤肿瘤综合征、DICER1相关肿瘤易感性以及结节性硬化症的儿童和青少年，提出了更新后的监测建议和考量，并为对这些疾病中每一种的进一步研究提供了建议。
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