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Schultz, Kris Ann P; Rednam, Surya P; Kamihara, Junne; Doros, Leslie; Achatz, Maria Isabel; Wasserman, Jonathan D; Diller, Lisa R; Brugières, Laurence; Druker, Harriet; Schneider, Katherine A; McGee, Rose B; Foulkes, William D
Clinical cancer research, 2017-Jun-15, 2017-06-15, 20170615, Volume: 23, Issue: 12Journal Article
hamartoma tumor syndrome (PHTS), syndrome, and hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome are pleiotropic tumor predisposition syndromes that include benign and malignant neoplasms affecting adults and children. PHTS includes several disorders with shared and distinct clinical features. These are associated with elevated lifetime risk of breast, thyroid, endometrial, colorectal, and renal cancers as well as melanoma. Thyroid cancer represents the predominant cancer risk under age 20 years. syndrome includes risk for pleuropulmonary blastoma, cystic nephroma, ovarian sex cord-stromal tumors, and multinodular goiter and thyroid carcinoma as well as brain tumors including pineoblastoma and pituitary blastoma. Individuals with HLRCC may develop multiple cutaneous and uterine leiomyomas, and they have an elevated risk of renal cell carcinoma. For each of these syndromes, a summary of the key syndromic features is provided, the underlying genetic events are discussed, and specific screening is recommended.
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