International Pleuropulmonary Blastoma Registry, Cancer and Blood Disorders, Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota.
Department of Pediatrics, Baylor College of Medicine, Texas Children's Cancer Center, Texas Children's Hospital, Houston, Texas.
Clin Cancer Res. 2017 Jun 15;23(12):e76-e82. doi: 10.1158/1078-0432.CCR-17-0629.
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.
错构瘤肿瘤综合征（PHTS）、综合征和遗传性平滑肌瘤病和肾细胞癌（HLRCC）综合征是多效性肿瘤易感性综合征，包括影响成人和儿童的良性和恶性肿瘤。PHTS 包括几种具有共同和独特临床特征的疾病。这些疾病与一生中乳腺癌、甲状腺癌、子宫内膜癌、结直肠癌和肾癌以及黑色素瘤的风险增加有关。甲状腺癌是 20 岁以下人群的主要癌症风险。综合征包括胸膜肺母细胞瘤、囊性肾瘤、卵巢性索-间质肿瘤、多结节性甲状腺肿和甲状腺癌以及脑肿瘤，包括成松果体细胞瘤和垂体母细胞瘤的风险。HLRCC 患者可能会发生多发性皮肤和子宫平滑肌瘤，并且肾癌风险增加。对于这些综合征中的每一种，都提供了关键综合征特征的摘要，讨论了潜在的遗传事件，并推荐了特定的筛查。
